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	NSWES924	WT	HH	HZ	NC
chr1	924865	924865	G	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon1:c.G434T:p.G145V,SAMD11:NM_001385641:exon1:c.G434T:p.G145V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	.	.	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5634055	0.64915	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461736	0.79838	T	.	.	.	.	.	.	.	.	.	0.831217	0.49813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.953	0.87203	P	.	.	5.074019	0.84639	28.4	0.88105584116012625	0.17720	0.93637	0.58764	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999994	0.74766	0.11394	0.02926	0	0.166317	0.03975	0	0.183864	0.04481	0	0.166187	0.04126	0	0.810642	0.48152	3.51	3.51	0.39297	4.069000	0.57259	.	.	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.637	0.68301	940	0.13648	SAND domain|SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.8	1	chr1	924865	.	G	T	33.8	.	AC=2;AF=0.1;AN=20;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.3431;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	0
chr1	1490591	1490591	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon13:c.G1396A:p.G466R,ATAD3B:NM_031921:exon15:c.G1534A:p.G512R	.	432	1062	27	1	0	29	0.0134696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.367517647289	7.7e-05	0.00119808	0.0009	0.0001	0.0001	0	0	0.0004	0	0.0048	0.0006986	108	154602	rs371797847	0.0005	0.0005	0.0003	0.0007	0.0055	0.0005	0.0005	0.0044	0.0042	0.0001	0.0003	0.0022	2.525e-05	0	0.0055	0.0002	0.0007	0.0047	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	2.407e-05	0	0.0001	0.0026	0	0	0	0.0002	0	0.0054	0.091	0.31834	T	0.319	0.19188	T	0.934	0.52202	P	0.288	0.40614	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	-3.53	0.94764	D	-3.79	0.71639	D	0.646	0.65758	0.554	0.91288	D	0.816	0.93812	D	10	0.021294236	0.00506	T	0.367518	0.92665	D	0.640	0.86283	0.563	0.68364	0.82766997058	0.82603	0.23252161715020395	0.23167	0.0374059703501	0.03967	0.640593290329	0.58649	T	0.082176	0.36767	T	-0.0566224	0.43434	T	0.146293	0.79950	D	0.12736808118792	0.15137	T	0.971703	0.89738	D	0.28298393	0.51333	0.20234084	0.44257	0.28298393	0.51333	0.20234084	0.44256	-8.713	0.65830	D	.	.	.	.	.	.	.	3.127787	0.42255	21.5	0.95906600698738009	0.28147	0.91036	0.52735	D	AEFBI	0.634985	0.61466	D	-0.055284376640717	0.39365	2.320346	-0.234434062783645	0.30312	1.705563	0.0366613238026208	0.14255	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.55	1.6	0.22686	5.053000	0.64089	7.013000	0.57238	0.241000	0.18245	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.1249:0.0:0.8751:0.0	8.489	0.32251	856	0.34373	.	.	.	.	.	.	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	0.004541	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.003788	0.1	3736.14	39	chr1	1490591	.	G	A	3736.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.96;DP=619;ExcessHet=0.2348;FS=1.299;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.3;MQRankSum=-0.479;QD=11.25;ReadPosRankSum=-0.077;SOR=0.612	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1804,0,1536	8	0	2	0
chr1	1534043	1534043	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon16:c.G1732A:p.G578R,ATAD3A:NM_001170536:exon16:c.G1495A:p.G499R,ATAD3A:NM_018188:exon16:c.G1876A:p.G626R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	401	1106	14	1	0	16	0.00718133	.	.	.	731742	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.254	0.00895745932285	7.7e-05	0.000998403	0.0005	9.781e-05	8.675e-05	0	0	0.0003	0	0.0029	0.0004851	75	154602	rs200240134	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0029	0.0028	0.0001	0.0002	0.0021	0	0	0.0033	0.0001	0.0004	0.0032	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0.0023	0	0	0	0.0001	0	0.0039	0.092	0.39575	T	0.016	0.62352	D	0.002	0.09854	B	0.003	0.08700	B	0.526643	0.05233	N	1.339610	1	0.08975	N	1.645	0.42016	L	-3.13	0.94260	D	-0.44	0.14588	N	0.19	0.22486	-0.9950	0.31299	T	0.082	0.32266	T	10	0.006322235	0.00143	T	0.008957	0.23607	T	0.254	0.56428	0.205	0.12076	0.858030211332	0.85666	0.3426565669532685	0.34178	0.557617868616	0.52378	0.240795224905	0.02862	T	0.003222	0.02626	T	-0.293966	0.09242	T	-0.19746	0.54888	T	0.00579250374565147	0.00063	T	0.606739	0.22845	T	0.05790206	0.11583	0.056852117	0.10233	0.057708804	0.11517	0.060134023	0.11402	-3.49	0.18700	T	.	.	0.085	0.14015	B	.;.;.	.;.;.	-0.375990	0.02304	0.243	0.83937976348057852	0.15004	0.03254	0.08282	N	AEFDBHI	0.132227	0.25145	N	-1.01619637540621	0.08267	0.3870375	-1.21685798152388	0.05638	0.2692183	0.0222111921143013	0.13413	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.65	-2.53	0.05959	-0.499000	0.06494	-0.793000	0.07406	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3537:0.1513:0.4951:0.0	4.668	0.12058	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005040	0.005051	0.004087	0.002924	0.000000	0.008621	0.009146	0.007576	0.05	1040.43	37	chr1	1534043	.	G	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.526;SOR=0.703	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1052,0,1138	9	0	1	0
chr1	1754106	1754106	C	A	exonic	NADK	.	nonsynonymous SNV	NADK:NM_001198995:exon8:c.G950T:p.C317F,NADK:NM_001198993:exon10:c.G1046T:p.C349F,NADK:NM_001353641:exon10:c.G1046T:p.C349F,NADK:NM_001353642:exon10:c.G785T:p.C262F,NADK:NM_023018:exon10:c.G1046T:p.C349F,NADK:NM_001198994:exon12:c.G1481T:p.C494F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0780226378601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	0.72	0.50976	T	-10.69	0.99152	D	0.962	0.97207	-0.2714	0.75774	T	0.352	0.71596	T	10	0.9798485	0.97927	D	0.078023	0.72907	D	0.527	0.80007	0.931	0.98930	0.812215987614	0.81045	0.9889936934996834	0.98893	.	.	0.844260454178	0.88743	D	0.34387	0.71246	T	0.302751	0.83187	D	0.197105	0.82969	D	0.999837875366211	0.99255	D	0.983302	0.94339	D	0.98426604	0.99418	0.96414506	0.99188	0.98426604	0.99418	0.96414506	0.99189	-14.895	0.95614	D	.	.	0.997	0.97486	P	.;.;.;.	.;.;.;.	5.614436	0.92556	32	0.9936929915298286	0.61368	0.96565	0.69776	D	AEFDBCI	0.953574	0.96998	D	0.777612275596486	0.84687	8.358016	0.697039396935529	0.82152	7.697246	0.999999384663264	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.27	4.36	0.51643	7.343000	0.78559	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9201:0.0:0.0799	12.933	0.57695	687	0.59234	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1015.43	33	chr1	1754106	.	C	A	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.116;DP=386;ExcessHet=0;FS=1.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.058;SOR=0.443	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1027,0,731	9	0	1	0
chr1	3509132	3509132	C	T	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon12:c.G1471A:p.G491R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0458307914746	.	.	0.0007	0	0.0069	0	0	3.343e-05	0	0	0.0002781	43	154602	rs778653330	0.0001	0.0001	0.0001	7.503e-05	0.0028	8.864e-05	8.345e-05	0.0024	0.0023	3.042e-05	0.0028	0	0	0	0.0002	1.898e-05	0	2.378e-05	7.228e-05	7.223e-05	6.422e-05	8.071e-05	0.0005	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	2.94e-05	0	0.0002	0.429	0.09572	T	0.041	0.50514	D	0.145	0.51690	B	0.011	0.28749	B	0.394868	0.13204	N	0.649236	1	0.08975	N	1.83	0.48079	L	-2.12	0.86283	D	-2.6	0.55983	D	0.464	0.53620	-0.6166	0.64130	T	0.406	0.75557	T	10	0.008156508	0.00185	T	0.045831	0.62172	D	0.184	0.45763	0.376	0.38994	0.798710845723	0.79683	0.6340046418852128	0.63334	0.288324777556	0.31240	0.599999368191	0.52905	T	0.008163	0.07505	T	-0.309223	0.07816	T	-0.21969	0.52768	T	0.0811867543673196	0.10138	T	0.822018	0.48145	T	0.06627665	0.14244	0.08876818	0.20717	0.06627665	0.14244	0.08876818	0.20717	-5.423	0.41140	T	.	.	0.115	0.23183	B	.;.	.;.	1.622562	0.20726	14.88	0.79544878265746477	0.12790	0.44366	0.27302	N	AEFBI	0.161242	0.28727	N	-0.614032426182452	0.18521	0.9622865	-0.696701373207386	0.17043	0.9044265	0.999476711756804	0.39898	0.732398	0.92422	0	0.547309	0.14657	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.4	3.4	0.38031	2.438000	0.44495	2.355000	0.32337	0.587000	0.30956	0.042000	0.21073	0.268000	0.24029	0.004000	0.06068	0.0:1.0:0.0:0.0	12.267	0.54003	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	176.43	35	chr1	3509132	.	C	T	176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.885;DP=352;ExcessHet=0;FS=3.368;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=-0.332;SOR=1.609	GT:AD:DP:GQ:PL	0/1:28,10:38:99:188,0,660	9	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,10:30:55:.:.:55,0,265:.	2	0	5	3
chr1	9607681	9607681	G	A	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001130924:exon7:c.G1285A:p.A429T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00156064867967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224718071	4.287e-06	7.524e-06	2.82e-06	5.795e-06	5.56e-06	1.54e-06	1.01e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.431228	0.12745	N	0.751071	1	0.08975	N	-0.49	0.02651	N	.	.	.	-0.12	0.08809	N	0.021	0.00339	-0.9856	0.33687	T	0.035	0.14943	T	9	0.019906312	0.00451	T	0.001561	0.02471	T	0.025	0.05312	0.146	0.04941	0.043077524339	0.03247	0.23828618594757925	0.23742	0.254192981874	0.27987	0.292498588562	0.09287	T	0.001939	0.01356	T	-0.257235	0.13225	T	-0.607277	0.12207	T	0.0161243560341668	0.00389	T	0.69513	0.30474	T	0.030727012	0.02785	0.046161152	0.06374	0.030727012	0.02785	0.046161152	0.06373	-3.693	0.19215	T	.	.	0.064	0.01715	B	.	.	0.045196	0.04605	1.274	0.57510287517543046	0.05785	0.02470	0.06930	N	AEFDBI	0.024246	0.01470	N	-0.856440873841102	0.11892	0.5764872	-0.959113101869886	0.10712	0.5412836	0.982042093300652	0.30345	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.51	-5.98	0.02034	-0.198000	0.09506	-1.329000	0.05702	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.937000	0.47636	0.6498:0.0:0.2531:0.0971	9.173	0.36252	762	0.50290	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1439.43	37	chr1	9607681	.	G	A	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.384;DP=436;ExcessHet=0;FS=5.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.314;SOR=0.551	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1451,0,1392	9	0	1	0
chr1	9942708	9942708	T	C	exonic	LZIC	.	nonsynonymous SNV	LZIC:NM_001316974:exon2:c.A28G:p.M10V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00943056662052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321519397	8.797e-07	1.368e-06	1.727e-06	0	1.086e-06	0	0	.	.	0	0	0	0	0	0	1.086e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	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	.	.	.	.	.	.	.	.	0.05	1054.43	37	chr1	9942708	.	T	C	1054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.955;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.617;SOR=0.628	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1066,0,896	9	0	1	0
chr1	10326244	10326244	G	A	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671A:p.E891K,KIF1B:NM_001365951:exon27:c.G2809A:p.E937K,KIF1B:NM_001365952:exon27:c.G2809A:p.E937K	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0702147198646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.40068	T	0.031	0.53788	D	0.974	0.57829	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.8	0.74793	T	-1.95	0.47344	N	0.842	0.86297	-0.1741	0.78328	T	0.495	0.80854	T	10	0.7175096	0.73443	D	0.070215	0.70941	D	0.434	0.73951	0.267	0.21418	0.854749708288	0.85335	0.7995837043823811	0.79912	1.31774924333	0.83370	0.870485365391	0.92638	D	0.402952	0.75983	T	0.313264	0.83988	D	0.212206	0.83779	D	0.895268738269806	0.54679	D	0.990041	0.96927	D	0.4144187	0.61718	0.37101015	0.62339	0.4144187	0.61719	0.37101015	0.62339	-12.881	0.89052	D	.	.	0.391	0.62221	A	.;.;.;.;.	.;.;.;.;.	5.153233	0.86316	28.9	0.99879548282218389	0.95572	0.99208	0.92825	D	AEFGBI	0.899206	0.84333	D	0.534574101761821	0.69150	5.316186	0.632757527234062	0.77333	6.658991	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	5513.28	34	chr1	10326244	.	G	A	5513.28	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,78:227:99:0|1:10326244_G_A:1208,0,5050:10326244	9	0	1	0
chr1	12192919	12192919	C	T	exonic	TNFRSF1B	.	nonsynonymous SNV	TNFRSF1B:NM_001066:exon6:c.C608T:p.T203M	.	401	1120	1	0	0	1	0.000446229	.	.	.	745626	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	.	0.00299521	0.0014	0.0002	0	0	0	4.509e-05	0.0034	0.0100	0.0013195	204	154602	rs199873050	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	2.987e-05	0	0	0	1.872e-05	0.0005	3.867e-05	0.0009	0.0101	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0108	0.0099	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0135	0.093	0.31532	T	0.075	0.42794	T	0.007	0.14184	B	0.0	0.01387	B	0.018674	0.01493	N	2.957910	1	0.08975	N	-0.405	0.02972	N	0.09	0.61443	T	-0.69	0.19720	N	0.067	0.03956	-1.0447	0.15913	T	0.094	0.35551	T	10	0.00282982	0.00045	T	.	.	.	0.048	0.13305	.	.	0.256237801699	0.25221	0.2695497805406635	0.26867	0.355834757723	0.37339	0.235359013081	0.02388	T	0.19761	0.55434	T	-0.593386	0.00160	T	-0.617172	0.11408	T	0.0218442776435811	0.00891	T	0.721828	0.33531	T	0.011809976	0.00022	0.018025585	0.00044	0.011809976	0.00022	0.018025585	0.00044	-5.897	0.45410	T	.	.	0.082	0.08657	B	.	.	-0.449535	0.02034	0.183	0.74689593838083845	0.10790	0.00858	0.03416	N	AEFDBCI	0.034916	0.04408	N	-1.87299147603569	0.00390	0.0167638	-1.99493524311157	0.00314	0.01386005	0.999999956970772	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	-8.18	0.00926	-1.108000	0.03423	-0.986000	0.06696	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3593:0.3427:0.1158:0.1822	1.721	0.02736	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1496.43	45	chr1	12192919	.	C	T	1496.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.162;DP=465;ExcessHet=0;FS=3.314;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.53;SOR=1.038	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1508,0,1359	9	0	1	0
chr1	12777268	12777268	G	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon3:c.G1121A:p.R374H	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00778754	0.0036	9.61e-05	0.0002	0.0001	0	0.0002	0.0011	0.0253	0.0031953	494	154602	rs200147207	0.0015	0.0015	0.0009	0.0022	0.0225	0.0015	0.0014	0.0217	0.0214	2.992e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0019	0.0225	0.0008	0.0009	0.0006	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	4.814e-05	0	0.0001	0	0.0002	0	0.0034	0.0001	0.0005	0.0234	0.566	0.06262	T	0.401	0.14961	T	0.37	0.34076	B	0.059	0.26602	B	0.678136	0.06076	N	1.164400	0.999688	0.20694	N	0.865	0.21413	L	2.97	0.09450	T	-1.57	0.37955	N	0.022	0.00372	-0.9753	0.36059	T	0.015	0.05946	T	10	0.008863747	0.00201	T	.	.	.	0.060	0.17295	.	.	0.0920862733494	0.08535	0.1834787494898176	0.18266	0.0334400944667	0.03497	0.207179114223	0.00697	T	0.003979	0.03393	T	-0.77426	0.00012	T	-0.866694	0.00774	T	0.0104976695965112	0.00145	T	0.608239	0.22965	T	0.025568908	0.01510	0.049385864	0.07536	0.025568908	0.01510	0.049385864	0.07535	-4.995	0.36786	T	.	.	0.085	0.10062	B	.	.	0.320703	0.06954	3.500	0.80431122992526194	0.13200	0.01878	0.05780	N	AEFBI	0.021757	0.01005	N	-1.20391572644976	0.04942	0.2241708	-1.32423841560855	0.04119	0.1936109	4.2027368328228E-4	0.06899	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	-5.07	0.02717	-1.075000	0.03534	-20.000000	0.00162	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.2543:0.0:0.7457:0.0	10.483	0.43889	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.000000	0.001362	0.006536	0.000000	0.008772	0.000000	0.003788	0.05	2920.43	33	chr1	12777268	.	G	A	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=554;ExcessHet=0;FS=3.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.72;MQRankSum=-1.041;QD=12.48;ReadPosRankSum=-2.676;SOR=0.751	GT:AD:DP:GQ:PL	0/1:119,115:234:99:2932,0,2772	9	0	1	0
chr1	15481128	15481128	T	C	exonic	CELA2B	.	nonsynonymous SNV	CELA2B:NM_015849:exon3:c.T160C:p.W54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0866125374213	.	0.000798722	9.885e-05	0.0012	0	0	0	0	0	0	0.0001035	16	154602	rs570562745	1.574e-05	1.642e-05	1.771e-05	1.376e-05	0.0006	1.048e-05	8.76e-06	0.0004	0.0004	0.0006	2.236e-05	0	0	0	0	8.993e-07	0	0	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0002	0	0	0	0	0	0	0	0.052	0.45039	T	0.049	0.54541	D	1.0	0.90584	D	0.988	0.77976	D	0.000064	0.52346	U	0.000000	0.523754	0.31548	N	0.115	0.08564	N	-2.31	0.90962	D	-11.07	0.99897	D	0.776	0.77319	0.459	0.89958	D	0.674	0.88696	D	10	0.50165176	0.61583	D	0.086613	0.74771	D	0.492	0.77847	0.613	0.74652	0.892778415409	0.89171	0.8222205446042016	0.82179	1.39810761714	0.85139	0.557833552361	0.46961	T	0.471656	0.82118	T	-0.115035	0.33939	T	-0.0235205	0.68797	D	0.293545155274077	0.24737	T	0.357364	0.13445	T	0.43938518	0.63363	0.4461243	0.67737	0.43938518	0.63364	0.4461243	0.67737	-9.564	0.71257	D	.	.	0.924	0.84558	P	.;.	.;.	3.040288	0.40753	21.2	0.95460818981595974	0.26994	0.87763	0.47414	D	AEFGI	0.405087	0.47811	N	0.0806346423108639	0.45559	2.810499	-0.0159472496579642	0.38995	2.30544	0.0647752799581796	0.15340	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	3.693000	0.54467	4.620000	0.44072	0.573000	0.29008	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	10.916	0.46351	921	0.19240	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2006.43	33	chr1	15481128	.	T	C	2006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=523;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=1.02;QD=12.78;ReadPosRankSum=-1.478;SOR=0.769	GT:AD:DP:GQ:PL	0/1:78,79:157:99:2018,0,2079	9	0	1	0
chr1	15736568	15736568	A	T	exonic	SLC25A34	.	nonsynonymous SNV	SLC25A34:NM_207348:exon1:c.A83T:p.E28V	.	.	.	.	.	.	.	.	.	.	.	4067794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.933	0.355692365445	.	0.000399361	6.972e-05	0.0006	0	0	0	0	0	0	4.53e-05	7	154602	rs528673529	1.814e-05	6.226e-05	2.079e-05	1.54e-05	0.0007	1.227e-05	1.032e-05	0.0005	0.0004	0.0007	0	0	0	0	0	2.881e-06	1.87e-05	0	0.0002	0.0002	0.0002	8.128e-05	0.0005	0.0001	9.772e-05	0.0004	0.0003	0.0005	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.13	0.88074	M	-1.38	0.80301	T	-6.26	0.90608	D	0.815	0.81063	0.691	0.93063	D	0.736	0.90983	D	10	0.86930984	0.86190	D	0.355692	0.92384	D	0.933	0.98452	.	.	0.737004362553	0.73465	0.8609971060721917	0.86063	0.390075350529	0.40229	0.810443580151	0.83560	D	0.562846	0.85396	D	0.21379	0.75187	D	0.36551	0.90908	D	0.933189749717712	0.59975	D	0.962804	0.86152	D	0.8944266	0.90891	0.8935559	0.94519	0.8944266	0.90892	0.8935559	0.94519	-12.546	0.87408	D	.	.	0.983	0.91748	P	.	.	5.161483	0.86488	28.9	0.99270401802775998	0.57525	0.93906	0.59534	D	AEFDBHCI	0.845504	0.76242	D	0.760614538005735	0.83595	8.058637	0.627835361455788	0.76968	6.590069	0.999999999998632	0.74766	0.422189	0.06491	0	0.550933	0.16991	0	0.596394	0.31383	0	0.691587	0.68394	0	.	.	3.92	3.92	0.44525	3.933000	0.56257	11.139000	0.87016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.864	0.57320	777	0.48198	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	432.43	38	chr1	15736568	.	A	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=336;ExcessHet=0;FS=3.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.406;SOR=0.26	GT:AD:DP:GQ:PL	0/1:12,19:31:99:444,0,298	9	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:355,148:503:99:3200,0,10100	0	0	10	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	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	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:535,179:714:99:3027,0,14532	0	0	10	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:284,203:487:99:5159,0,7634	0	0	10	0
chr1	16564831	16564831	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	353	1167	2	0	0	2	0.000856164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00052673715664	.	.	0.0098	0.1150	0.0039	0	0	0.0007	0.0090	0.0006	0.0001153	3	26028	rs770437557	0.0008	0.0006	0.0008	0.0008	0.0317	0.0007	0.0006	0.0254	0.0231	0.0317	0.0005	0.0023	0	0	0	7.253e-05	0.0007	0.0005	0.0142	0.0030	0.0048	0.0417	0.0400	0.0048	0.0029	0.0137	0.0082	0.0400	0	0	0	.	0	.	0	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	0.0032152236	0.00055	T	.	.	.	.	.	.	.	0.272639205421	0.26888	0.027268892915967798	0.02676	.	.	0.477838367224	0.35759	T	.	.	.	-0.419567	0.01721	T	-0.363131	0.37690	T	.	.	.	0.979802	0.93081	D	.	.	.	.	.	.	.	.	-6.235	0.48205	T	.	.	0.191	0.40921	B	.;.	.;.	2.266331	0.28962	17.97	0.85227618949389328	0.15763	0.02401	0.06803	N	AEFDBHCI	0.047497	0.08004	N	.	.	.	.	.	.	7.43775687916315E-4	0.07741	0.186212	0.04012	1	0.332388	0.05802	1	0.099648	0.03028	3	0.289096	0.05476	2	.	.	0.448	0.448	0.15824	0.000000	0.12910	-1.249000	0.05911	0.000000	0.17513	0.068000	0.22015	0.000000	0.08366	0.068000	0.16518	.	.	.	493	0.76500	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015267	0.005102	0.028533	0.031915	0.000000	0.017241	0.000000	0.000000	0.05	448.43	494	chr1	16564831	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.413;DP=3045;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.11;MQRankSum=1.83;QD=0.66;ReadPosRankSum=1.32;SOR=0.684	GT:AD:DP:GQ:PL	0/1:579,97:676:99:460,0,15250	9	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:216,60:276:99:1117,0,5668	5	0	5	0
chr1	16585563	16585563	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011903153584	.	.	0.0007	0.0069	0.0011	0	0	0	0	0	3.84e-05	1	26028	rs760712730	4.168e-05	0.0002	4.191e-05	4.146e-05	0.0010	3.265e-05	2.925e-05	0.0007	0.0006	0.0010	0.0002	0	0	0	0	2.078e-06	0.0003	0	0.0007	0.0024	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0005	0	0	0	0	0	0.0005	0	.	.	.	0.087	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.0071806908	0.00163	T	0.00119	0.01533	T	.	.	.	.	0.487843537783	0.48417	0.01722483744877485	0.01677	.	.	0.522105276585	0.41922	T	.	.	.	-0.415725	0.01822	T	-0.834936	0.01178	T	.	.	.	0.660434	0.29327	T	.	.	.	.	.	.	.	.	-10.629	0.77584	D	.	.	0.249	0.48365	B	.;.	.;.	1.689913	0.21535	15.24	0.3928902599643247	0.02702	0.00231	0.01293	N	AEFI	0.037882	0.05277	N	.	.	.	.	.	.	1.01336842137827E-4	0.05123	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	0.585000	0.23580	-7.024000	0.01249	0.475000	0.22001	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	450	0.79359	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	245.43	141	chr1	16585563	.	T	C	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.703;DP=600;ExcessHet=0;FS=2.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.91;MQRankSum=0.008;QD=3.23;ReadPosRankSum=1.16;SOR=1.244	GT:AD:DP:GQ:PL	0/1:62,14:76:99:257,0,2072	9	0	1	0
chr1	16591948	16591948	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	379	1141	2	0	0	2	0.000875657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0189	.	0.0131	0.1443	0.0055	0	0	0.0020	0.01	0.0002	0.0105497	1631	154602	rs201576546	0.0001	0.0004	0.0001	0.0001	0.0035	0.0001	0.0001	0.0030	0.0028	0.0035	6.717e-05	0.0010	0	0	0.0005	2.52e-05	0.0002	0	0.0005	0.0015	0.0006	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	6.64e-05	0.0006	0	0	0	5.892e-05	0.0014	0	.	.	.	0.115	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0025278926	0.00038	T	.	.	.	.	.	.	.	.	.	0.06431607410502116	0.06370	.	.	0.538407564163	0.44220	T	.	.	.	-0.212618	0.19012	T	-0.543187	0.17985	T	.	.	.	0.70223	0.31206	T	.	.	.	.	.	.	.	.	1.779	0.00064	T	.	.	0.108	0.34514	B	.;.	.;.	-0.902172	0.00922	0.035	0.92894088285004783	0.22446	0.00184	0.01074	N	AEFDHCIJ	0.027552	0.02270	N	.	.	.	.	.	.	0.999999596339861	0.74766	0.205481	0.04072	1	0.550037	0.16709	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-0.824	0.10266	-4.146000	0.00324	-20.000000	0.00162	-4.525000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	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	0.022222	0.015152	0.043478	0.028926	0.000000	0.008621	0.003049	0.000000	0.05	567.43	700	chr1	16591948	.	C	T	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=4106;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.82;MQRankSum=-0.566;QD=0.87;ReadPosRankSum=-2.239;SOR=0.735	GT:AD:DP:GQ:PL	0/1:564,89:653:99:579,0,14429	9	0	1	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/1:120,28:148:99:488,0,3143	4	0	6	0
chr1	17338120	17338120	T	C	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon5:c.T491C:p.M164T	.	.	.	.	.	.	.	.	.	.	.	3203621	PADI4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0048	0.00638978	0.0013	0.0149	0.0004	0	0	1.498e-05	0.0011	0	0.0013583	210	154602	rs11588132	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0161	0.0157	0.0173	0.0008	0	0	0	0.0009	2.7e-05	0.0013	0.0001	0.0046	0.0046	0.0048	0.0045	0.0159	0.0043	0.0042	0.0149	0.0145	0.0159	0	0.0020	0	0	0	0.0102	5.88e-05	0.0019	0	0.529	0.07048	T	0.578	0.08565	T	0.224	0.30397	B	0.131	0.32951	B	0.099154	0.19947	N	0.537298	0.997784	0.22508	N	1.33	0.33268	L	2.34	0.16351	T	-0.81	0.22294	N	0.082	0.05799	-0.9783	0.35390	T	0.009	0.03096	T	10	0.008557886	0.00194	T	.	.	.	0.015	0.02232	.	.	0.20549828249	0.20151	0.17392481891020825	0.17312	0.130270931993	0.14695	0.288032531738	0.08636	T	0.025318	0.18955	T	-0.68628	0.00044	T	-0.745596	0.03660	T	0.00115372267982541	0.00011	T	.	.	.	0.10598477	0.25061	0.077313974	0.17210	0.10598477	0.25061	0.077313974	0.17210	-2.32	0.04666	T	.	.	0.081	0.08129	B	.	.	0.179587	0.05674	2.121	0.30592967019908923	0.01681	0.48908	0.28313	N	AEFDBI	0.067397	0.13248	N	-0.755023985057364	0.14497	0.7226448	-0.707373185533505	0.16776	0.8891089	0.00202718394654044	0.09096	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	2.79	0.31792	0.553000	0.23098	-0.416000	0.09315	-0.126000	0.13398	0.391000	0.26096	0.000000	0.08366	0.018000	0.11154	0.1734:0.0943:0.0:0.7323	4.380	0.10722	658	0.62094	Protein-arginine deiminase (PAD), central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1375.43	33	chr1	17338120	.	T	C	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.884;SOR=0.728	GT:AD:DP:GQ:PL	0/1:85,65:150:99:1387,0,2137	9	0	1	0
chr1	17342345	17342345	T	C	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon8:c.T878C:p.V293A	.	.	.	.	.	.	.	.	.	.	.	3211009	PADI4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.362	.	0.0039	0.00559105	0.0012	0.0138	0.0004	0	0	0	0.0011	0	0.0009638	149	154602	rs113714693	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0008	0	0	0	0.0005	5.396e-06	0.0012	9.275e-05	0.0042	0.0042	0.0044	0.0040	0.0145	0.0040	0.0039	0.0136	0.0132	0.0145	0	0.0020	0	0	0	0.0102	2.941e-05	0.0019	0	0.001	0.78490	D	0.034	0.52727	D	0.999	0.77913	D	0.997	0.86255	D	0.000011	0.62929	N	0.066185	0.986377	0.40422	D	2.83	0.82355	M	1.96	0.22270	T	-3.37	0.66665	D	0.651	0.66187	-0.9251	0.44844	T	0.063	0.26172	T	10	0.021280378	0.00506	T	.	.	.	0.362	0.68230	.	.	0.433823933641	0.42998	0.4588317541215949	0.45801	0.175730073264	0.19785	0.632612109184	0.57516	T	0.252252	0.62261	T	-0.432201	0.01438	T	-0.381279	0.35573	T	0.0776673661267166	0.09685	T	.	.	.	0.78197193	0.82775	0.5948538	0.76481	0.78197193	0.82777	0.5948538	0.76482	-9.627	0.71647	D	.	.	0.256	0.49078	B	.	.	3.792412	0.54594	23.5	0.99561083743895906	0.71769	0.96575	0.69827	D	AEFDBI	0.635953	0.61528	D	0.738643204057498	0.82165	7.695414	0.672720526058396	0.80312	7.271172	0.9991537911716	0.38592	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	4.113000	0.57593	7.879000	0.72397	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	12.090	0.53021	666	0.61362	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1141.43	33	chr1	17342345	.	T	C	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.212;DP=435;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.381;SOR=0.888	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1153,0,1053	9	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase 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	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.1	2835.14	65	chr1	18877457	.	C	T	2835.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.326;DP=620;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.32;SOR=0.621	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1019,0,1815	8	0	2	0
chr1	20175005	20175008	ACCT	-	exonic	PLA2G2C	.	frameshift deletion	PLA2G2C:NM_001316722:exon3:c.178_179del:p.S60Pfs*51,PLA2G2C:NM_001367969:exon3:c.178_179del:p.R60Afs*53	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.00419329	0.0012	0.0135	0.0006	0	0	0	0.0011	0	0.0001537	4	26028	rs370008327	0.0003	0.0003	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0005	0	0	0	0.0005	3.6e-06	0.0008	0	0.0034	0.0034	0.0035	0.0033	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0014	0	0	0	0	0	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2662.39	43	chr1	20175004	.	CACCT	C	2662.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=614;ExcessHet=0;FS=7.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.351;SOR=1.213	GT:AD:DP:GQ:PL	0/1:124,73:197:99:2674,0,4881	9	0	1	0
chr1	20779841	20779841	T	C	exonic	HP1BP3	.	nonsynonymous SNV	HP1BP3:NM_001376792:exon2:c.A53G:p.K18R,HP1BP3:NM_001376793:exon2:c.A53G:p.K18R,HP1BP3:NM_001376794:exon2:c.A53G:p.K18R,HP1BP3:NM_001376797:exon2:c.A53G:p.K18R,HP1BP3:NM_001372052:exon3:c.A167G:p.K56R,HP1BP3:NM_001376787:exon3:c.A167G:p.K56R,HP1BP3:NM_001376788:exon3:c.A167G:p.K56R,HP1BP3:NM_001376789:exon3:c.A167G:p.K56R,HP1BP3:NM_001376790:exon3:c.A167G:p.K56R,HP1BP3:NM_001376791:exon3:c.A53G:p.K18R,HP1BP3:NM_001376795:exon3:c.A167G:p.K56R,HP1BP3:NM_001376796:exon3:c.A167G:p.K56R,HP1BP3:NM_016287:exon3:c.A167G:p.K56R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0115830826406	.	.	8.841e-06	0	0	0	0	0	0	6.602e-05	6.5e-06	1	154602	rs771841842	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0.0002	8.995e-07	0	2.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.91255	D	0.239	0.92824	T	0.956	0.73220	P	0.931	0.82059	D	0.000104	0.50451	D	0.168594	0.992564	0.46519	D	0.695	0.17993	N	0.69	0.51714	T	-0.46	0.62343	N	0.391	0.49055	-0.7246	0.59234	T	0.195	0.54913	T	10	0.19331	0.35095	T	0.011583	0.29347	T	0.129	0.35316	0.138	0.04187	0.427830603989	0.42401	0.07185918577436716	0.07122	0.917637757724	0.71311	0.5307046175	0.43134	T	0.122433	0.44610	T	-0.165895	0.25858	T	-0.294545	0.45298	T	0.360626358189284	0.27434	T	0.794521	0.44465	T	0.09443123	0.22201	0.09273114	0.21867	0.09443123	0.22200	0.09273114	0.21867	-4.214	0.27212	T	.	.	0.081	0.21049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.522633	0.70923	25.6	0.99641768282972154	0.76695	0.94440	0.61173	D	AEFDBI	0.471916	0.51725	N	0.545536774146038	0.69811	5.410313	0.597123282057659	0.74733	6.187488	0.999999937211999	0.74766	0.736574	0.97449	0	0.723133	0.82719	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	3.545000	0.53401	6.178000	0.54590	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.116	0.72075	839	0.37672	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.05	365.43	41	chr1	20779841	.	T	C	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.788;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.669;SOR=0.892	GT:AD:DP:GQ:PL	0/1:16,20:36:99:377,0,324	9	0	1	0
chr1	23961617	23961617	G	A	exonic	PNRC2	.	nonsynonymous SNV	PNRC2:NM_017761:exon3:c.G160A:p.A54T	.	425	1087	8	2	0	12	0.00548948	.	.	.	2225305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0104569753217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs908873824	0.0001	0.0001	5.854e-05	0.0002	0.0014	0.0001	9.702e-05	0.0009	0.0008	2.988e-05	0.0002	0	0	0	0.0014	4.137e-05	0.0003	0.0011	6.566e-05	6.562e-05	8.996e-05	4.027e-05	0.0003	3.514e-05	2.614e-05	8.867e-05	5.28e-05	0	0	0.0003	0	0	0	0.0034	5.88e-05	0	0.0002	0.077	0.34095	T	0.226	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.251643	0.15497	N	0.633911	0.814414	0.34686	D	0.695	0.17993	N	0.92	0.44461	T	-0.82	0.22508	N	0.175	0.19861	-1.0750	0.08348	T	0.080	0.31795	T	9	0.086693615	0.14760	T	0.010457	0.27023	T	0.089	0.25827	0.205	0.12076	0.344710718752	0.34073	0.31461409994735884	0.31374	.	.	0.412409842014	0.26791	T	0.122914	0.44692	T	-0.458527	0.01004	T	-0.514451	0.20858	T	0.0569530182961171	0.06680	T	0.805019	0.45286	T	0.08076223	0.18523	0.21908306	0.46635	0.08076223	0.18522	0.21908306	0.46634	-4.645	0.32732	T	.	.	0.076	0.06069	B	.;.;.	.;.;.	2.969952	0.39582	21.0	0.99349917859898129	0.60533	0.92526	0.55918	D	AEFDBCI	0.779909	0.71196	D	-0.117436908156747	0.36634	2.120152	0.0169427648861556	0.40501	2.418138	0.999999933356253	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.59	3.59	0.40253	6.799000	0.74947	11.711000	0.94653	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.178:0.822:0.0	11.776	0.51255	769	0.49307	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	523.43	49	chr1	23961617	.	G	A	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=411;ExcessHet=0;FS=6.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.14;MQRankSum=-0.319;QD=10.26;ReadPosRankSum=0.39;SOR=1.588	GT:AD:DP:GQ:PL	0/1:32,19:51:99:535,0,845	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,8:25:99:0|1:26282270_C_T:1028,714,690:26282270	0	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3598.17	66	chr1	26282374	.	ACC	*	3598.17	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.01;DP=428;ExcessHet=2.8389;FS=13.45;InbreedingCoeff=-0.4296;MLEAC=2;MLEAF=0.125;MQ=59.76;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.166;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,17:26:99:0|1:26282270_C_T:687,0,322:26282270	6	0	2	2
chr1	26794507	26794507	G	A	exonic	PIGV	.	nonsynonymous SNV	PIGV:NM_001374483:exon2:c.G92A:p.S31N,PIGV:NM_001202554:exon3:c.G473A:p.S158N,PIGV:NM_001374478:exon3:c.G473A:p.S158N,PIGV:NM_001374480:exon3:c.G473A:p.S158N,PIGV:NM_001374481:exon3:c.G473A:p.S158N,PIGV:NM_001374482:exon3:c.G473A:p.S158N,PIGV:NM_017837:exon3:c.G473A:p.S158N	Hyperphosphatasia with mental retardation syndrome 1, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	732359	Hyperphosphatasia_with_intellectual_disability_syndrome_1|not_provided	MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.0682984300424	.	0.000199681	0.0008	9.612e-05	0.0003	0	0	0.0002	0.0011	0.0046	0.0006404	99	154602	rs201332799	0.0004	0.0004	0.0002	0.0006	0.0043	0.0004	0.0004	0.0039	0.0038	0	4.472e-05	0	0	0.0004	0.0023	0.0001	0.0004	0.0043	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0	0.0005	0	0.0002	0.0005	0.0039	0.478	0.08286	T	0.012	0.63918	D	0.074	0.24142	B	0.039	0.23607	B	0.000000	0.84330	D	0.045576	0.999898	0.81001	D	1.41	0.35535	L	-1.73	0.83327	D	2.42	0.00255	N	0.501	0.53357	-0.5482	0.66855	T	0.366	0.72643	T	9	0.018813342	0.00413	T	0.068298	0.70412	D	0.373	0.69188	.	.	0.873632360492	0.87240	0.17975048978749725	0.17894	0.220091016558	0.24552	0.645162761211	0.59298	T	0.282528	0.65527	T	-0.371432	0.03522	T	-0.305909	0.44097	T	0.051816980310711	0.05815	T	0.889011	0.61998	D	0.17840683	0.38857	0.19594933	0.43299	0.17763558	0.38740	0.19246356	0.42760	-2.397	0.05114	T	0.10114410098652933	0.07542	0.406	0.61659	A	.;.;.	.;.;.	2.950590	0.39262	20.9	0.33309165013536363	0.01977	0.97194	0.73244	D	AEFBI	.	.	.	-0.0186120809733682	0.41013	2.445699	0.185061206475967	0.49027	3.111052	0.999997140938669	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	5.55	0.83298	4.529000	0.60301	11.812000	0.96965	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1359:0.8641:0.0	15.827	0.78494	379	0.83778	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1715.43	33	chr1	26794507	.	G	A	1715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.802;DP=459;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-3.004;SOR=0.487	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1727,0,1999	9	0	1	0
chr1	27382622	27382622	T	C	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.A134G:p.N45S,CD164L2:NM_207397:exon2:c.A134G:p.N45S	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.010628302748	0.0002	0.00119808	0.0008	9.942e-05	0.0002	0.0001	0	0.0004	0.0047	0.0034	0.0006598	102	154602	rs140169689	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0065	0	0.0002	0	0	0	0.0094	0.0002	0.0009	0.0026	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	2.408e-05	0	0.0002	0	0	0	0	0.0003	0	0.0031	0.008	0.58626	D	0.26	0.23298	T	0.986	0.61523	D	0.848	0.60574	P	0.015669	0.28183	N	0.251109	0.919343	0.27330	N	2.285	0.65182	M	1.04	0.40218	T	-0.27	0.11366	N	0.26	0.29429	-0.9393	0.42727	T	0.152	0.48135	T	10	0.011585534	0.00253	T	0.010628	0.27388	T	0.186	0.46104	.	.	0.545611132464	0.54216	0.2765596639845557	0.27568	0.147450757284	0.16638	0.516688346863	0.41160	T	0.004111	0.03522	T	-0.567833	0.00228	T	-0.59148	0.13538	T	0.0427860683289049	0.04198	T	0.822518	0.48242	T	0.06435776	0.13647	0.09246045	0.21791	0.06435776	0.13646	0.09246045	0.21790	-2.412	0.05207	T	.	.	0.131	0.28232	B	.;.	.;.	2.841763	0.37494	20.5	0.99801818508141793	0.88639	0.79222	0.39216	D	AEFBI	0.091932	0.18617	N	0.309072221702106	0.56613	3.826304	0.265049426994407	0.53511	3.519564	0.999609762953021	0.40866	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	3.51	0.39297	1.268000	0.32665	2.645000	0.33778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1061:0.0:0.8939	6.763	0.22737	624	0.65661	.;.	.	.	.	.	.	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	0.002022	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	466.43	36	chr1	27382622	.	T	C	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.025;DP=410;ExcessHet=0;FS=2.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.43;SOR=0.317	GT:AD:DP:GQ:PL	0/1:27,20:47:99:478,0,703	9	0	1	0
chr1	37475591	37475591	C	T	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon2:c.C95T:p.P32L,ZC3H12A:NM_025079:exon2:c.C95T:p.P32L	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00607492430841	0.0020	0.00119808	0.0021	0.0002	0.0004	0	0.0077	0.0026	0.0033	0.0013	0.002128	329	154602	rs115805535	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0023	0.0022	0.0001	0.0007	0.0002	0	0.0087	0.0028	0.0024	0.0017	0.0016	0.0018	0.0018	0.0017	0.0019	0.0037	0.0017	0.0016	0.0024	0.0020	0.0004	0	0.0011	0.0003	0	0.0069	0.0068	0.0021	0.0019	0.0037	0.023	0.48186	D	0.017	0.60337	D	0.001	0.07471	B	0.002	0.06944	B	0.511821	0.05151	N	1.305210	0.999999	0.08975	N	2.47	0.71715	M	1.94	0.22678	T	-1.22	0.30964	N	0.245	0.27673	-1.0001	0.29888	T	0.043	0.18535	T	10	0.0036097467	0.00065	T	0.006075	0.15875	T	0.027	0.05988	.	.	0.110392049598	0.10638	0.4266768981780453	0.42584	0.550453853848	0.51914	0.331350296736	0.15138	T	0.099441	0.40426	T	-0.530672	0.00380	T	-0.532715	0.19017	T	0.0248165175544157	0.01248	T	0.755524	0.37862	T	0.036713094	0.04569	0.064831436	0.13050	0.036713094	0.04569	0.064831436	0.13050	-4.411	0.29706	T	.	.	0.070	0.03661	B	.	.	1.055195	0.14367	10.94	0.94398696096965262	0.24786	0.23600	0.22128	N	AEFDGBHCI	0.056063	0.10334	N	-0.897462391982019	0.10902	0.5233444	-0.965312171067998	0.10570	0.5331936	0.999999953356524	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	4.13	2.16	0.26663	1.300000	0.33040	0.991000	0.23192	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.7161:0.1818:0.1021	6.587	0.21823	888	0.27761	.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1406.43	33	chr1	37475591	.	C	T	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=388;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.923;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,37:82:99:0|1:37475591_C_T:1418,0,1773:37475591	9	0	1	0
chr1	37475595	37475595	G	T	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon2:c.G99T:p.R33S,ZC3H12A:NM_025079:exon2:c.G99T:p.R33S	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00328558190096	0.0029	0.00139776	0.0024	0.0035	0.0004	0	0.0077	0.0026	0.0033	0.0013	0.0023674	366	154602	rs116208741	0.0024	0.0024	0.0024	0.0024	0.0035	0.0023	0.0023	0.0030	0.0028	0.0035	0.0009	0.0002	0	0.0087	0.0028	0.0024	0.0020	0.0017	0.0028	0.0028	0.0028	0.0029	0.0039	0.0026	0.0025	0.0033	0.0031	0.0038	0	0.0016	0.0003	0	0.0069	0.0068	0.0022	0.0038	0.0039	0.124	0.27426	T	0.873	0.03286	T	0.004	0.12183	B	0.002	0.06944	B	0.695913	0.06174	N	1.176120	1	0.08975	N	1.1	0.28011	L	2.03	0.20959	T	0.76	0.01978	N	0.072	0.04547	-0.9633	0.38547	T	0.031	0.13374	T	10	0.0050076246	0.00108	T	0.003286	0.07268	T	0.023	0.04649	0.171	0.07655	0.043077524339	0.03247	0.10926685133256654	0.10855	0.591322331779	0.54571	0.241275086999	0.02906	T	0.032812	0.22648	T	-0.611671	0.00124	T	-0.649065	0.09019	T	0.0066728707799811	0.00075	T	0.424758	0.11367	T	0.09235534	0.21664	0.0643721	0.12892	0.09235534	0.21664	0.0643721	0.12891	-1.722	0.02287	T	.	.	0.100	0.17016	B	.	.	0.596231	0.09647	6.419	0.72764252282045094	0.10087	0.09879	0.15533	N	AEFDGBHCI	0.079442	0.16045	N	-1.09756894888903	0.06688	0.3085805	-1.126291124345	0.07200	0.3493778	0.999999840475249	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	4.13	2.18	0.26813	2.261000	0.42932	1.376000	0.25995	-0.153000	0.12021	0.939000	0.32602	0.042000	0.21616	0.005000	0.06747	0.0935:0.0:0.7323:0.1742	6.778	0.22818	888	0.27761	.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1409.43	33	chr1	37475595	.	G	T	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.566;DP=386;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=1.11;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,37:81:99:0|1:37475591_C_T:1421,0,1736:37475591	9	0	1	0
chr1	39292767	39292767	G	T	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon16:c.G1931T:p.G644V	.	436	1053	30	3	0	36	0.0168067	0.0862	0.118	.	707402	not_provided|Lissencephaly_9_with_complex_brainstem_malformation	MedGen:C3661900|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0057	0.0061901	0.0054	0.0090	0.0046	0.0027	0.0017	0.0057	0.0135	0.0053	0.0045213	699	154602	rs139995582	0.0039	0.0039	0.0037	0.0041	0.0657	0.0038	0.0038	0.0602	0.0581	0.0082	0.0044	0.0151	0.0016	0.0031	0.0657	0.0030	0.0080	0.0050	0.0059	0.0059	0.0058	0.0059	0.0079	0.0055	0.0054	0.0072	0.0069	0.0079	0.0297	0.0077	0.0164	0.0031	0.0035	0.0680	0.0036	0.0142	0.0033	0.182	0.23183	T	0.319	0.19188	T	.	.	.	.	.	.	.	.	.	.	0.999099	0.46054	D	.	.	.	-3.46	0.94508	D	-0.64	0.53420	N	0.536	0.59308	-0.0226	0.81785	T	0.540	0.83032	D	9	0.007428974	0.00169	T	.	.	.	0.407	0.71946	.	.	0.663463389151	0.66063	0.2719606755441549	0.27109	.	.	0.431831806898	0.29459	T	0.047915	0.42668	T	-0.156217	0.27343	T	0.00880123	0.70905	D	0.00550271441298207	0.00060	T	0.873913	0.62289	D	0.07105359	0.15700	0.15626097	0.36592	0.0642471	0.13612	0.11086408	0.26736	-6.513	0.50387	T	.	.	0.122	0.25560	B	.;.;.;.;.;.	.;.;.;.;.;.	3.131677	0.42320	21.5	0.975439539661204	0.34528	0.88553	0.48534	D	AEFBI	0.331998	0.43155	N	0.0541826292783003	0.44335	2.709463	0.215040670187335	0.50680	3.257699	0.99948405510215	0.39952	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.61	5.61	0.85347	3.037000	0.49465	9.949000	0.82714	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0731:0.0:0.7804:0.1465	9.169	0.36233	704	0.57414	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.049395	0.030612	0.051630	0.131579	0.000000	0.060345	0.009146	0.007576	0.05	382.43	35	chr1	39292767	.	G	T	382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.39;DP=275;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.596;SOR=1.061	GT:AD:DP:GQ:PL	0/1:6,17:23:99:394,0,145	9	0	1	0
chr1	39413578	39413578	A	G	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A3313G:p.T1105A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00387143386036	.	.	.	.	.	.	.	.	.	.	0.0044183	115	26028	rs783822	0.0007	0.0006	0.0006	0.0007	0.0128	0.0006	0.0006	0.0104	0.0095	0.0011	0.0033	0.0014	0.0128	0.0025	0.0021	0.0004	0.0013	0.0026	0.0013	0.0008	0.0014	0.0013	0.0028	0.0009	0.0007	0.0012	0.0008	0.0028	0	0.0021	0.0022	0.0022	0.0010	0	0.0008	0	0.0026	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	-0.9491	0.41126	T	0.019	0.07939	T	9	0.005288273	0.00116	T	0.003871	0.09086	T	0.006	0.00375	.	.	0.043077524339	0.03247	.	.	0.0504775060377	0.05541	0.315991818905	0.12813	T	0.045417	0.27117	T	-0.776442	0.00012	T	-0.801229	0.01872	T	0.000437457842053846	0.00003	T	0.0607939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02342	B	.;.	.;.	-0.362137	0.02359	0.257	0.43054762521816714	0.03215	0.00255	0.01401	N	AEFBI	0.016902	0.00409	N	-1.62983930477449	0.01123	0.04876604	-1.57471085148324	0.01811	0.08247283	0.999525929055497	0.40175	0.722319	0.85440	0	0.379588	0.06130	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.86	1.59	0.22622	-2.150000	0.01376	-20.000000	0.00162	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3802:0.1494:0.4704:0.0	4.767	0.12507	809	0.43032	.;.	.	.	.	.	.	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	0.044181	0.101124	0.017143	0.117647	0.150000	0.009259	0.012903	0.007812	0.05556	135.19	11	chr1	39413578	.	A	G	135.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.463;DP=152;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.056;MQ=43.65;MQRankSum=-0.683;QD=9.66;ReadPosRankSum=-0.56;SOR=0.12	GT:AD:DP:GQ:PL	0/1:7,7:14:99:146,0,180	8	0	1	1
chr1	41009547	41009547	G	A	exonic	CTPS1	.	nonsynonymous SNV	CTPS1:NM_001301237:exon13:c.G1181A:p.R394Q,CTPS1:NM_001905:exon17:c.G1649A:p.R550Q	Immunodeficiency 24, Autosomal recessive	427	1093	2	0	0	2	0.000914077	.	.	.	627841	Severe_combined_immunodeficiency_due_to_CTPS1_deficiency	MONDO:MONDO:0014391,MedGen:C4014617,OMIM:615897,Orphanet:420573	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00695252739234	.	.	9.899e-05	9.634e-05	0	0	0	0.0002	0	6.061e-05	7.76e-05	12	154602	rs776186929	5.199e-05	5.199e-05	4.356e-05	6.05e-05	0.0009	4.258e-05	3.888e-05	0.0003	0.0002	0.0001	2.236e-05	3.826e-05	2.519e-05	0	0.0009	4.946e-05	0.0001	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.668e-05	7.259e-05	6.807e-05	5.09e-05	4.82e-05	0	0.0001	0	0	0	0.0204	0.0001	0.0005	0	0.739	0.03708	T	0.681	0.06090	T	0.021	0.18474	B	0.004	0.10090	B	0.000086	0.51296	N	0.159006	0.999699	0.48338	D	0.475	0.13142	N	0.99	0.41750	T	-1.1	0.28497	N	0.245	0.27673	-1.0854	0.06335	T	0.051	0.21689	T	10	0.072362214	0.10793	T	0.006953	0.18402	T	0.051	0.14325	0.39	0.41279	0.685924971765	0.68324	0.37847154352061396	0.37762	1.08999781188	0.77402	0.395078271627	0.24383	T	0.181502	0.53319	T	-0.270449	0.11707	T	-0.410923	0.32118	T	0.0394966639578342	0.03599	T	0.906909	0.67118	D	0.10590062	0.25039	0.05134056	0.08243	0.10590062	0.25039	0.05134056	0.08243	-3.371	0.14669	T	.	.	0.100	0.34094	B	.;.;.;.;.;.	.;.;.;.;.;.	3.035452	0.40672	21.2	0.88049169394723936	0.17677	0.94375	0.60965	D	AEFDBI	0.446928	0.50278	N	-0.329907353891085	0.28017	1.541883	-0.102342439330566	0.35297	2.040319	0.999842445920366	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	4.882000	0.62813	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0862:0.0:0.9138:0.0	11.678	0.50704	645	0.63593	Glutamine amidotransferase;Glutamine amidotransferase;.;Glutamine amidotransferase;Glutamine amidotransferase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1041.43	44	chr1	41009547	.	G	A	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=423;ExcessHet=0;FS=0.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.081;SOR=0.838	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1053,0,779	9	0	1	0
chr1	42735103	42735103	C	A	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_148960:exon5:c.G658T:p.G220C	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1401701	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.400	0.15966669736	.	0.000199681	6.897e-05	0	0.0003	0	0	7.774e-05	0	0	7.12e-05	11	154602	rs200491942	3.763e-05	3.762e-05	4.085e-05	3.439e-05	0.0005	2.96e-05	2.656e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	2.339e-05	3.314e-05	2.319e-05	4.597e-05	4.593e-05	5.139e-05	4.029e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.125	0.35330	T	1.0	0.90584	D	0.979	0.74454	D	0.336112	0.14036	N	0.696409	0.993412	0.81001	D	0.69	0.16971	N	-2.78	0.90962	D	-0.43	0.14390	N	0.174	0.18649	0.439	0.89671	D	0.679	0.88911	D	10	0.15017232	0.28408	T	0.159667	0.83982	D	0.400	0.71401	0.157	0.06070	0.956602318341	0.95614	0.585670720850032	0.58496	0.713328286402	0.61811	0.634899258614	0.57839	T	0.060458	0.31393	T	-0.101158	0.36234	T	-0.0211722	0.68951	D	0.151695059924951	0.17237	T	0.527047	0.17380	T	0.27199244	0.50269	0.21294896	0.45785	0.27199244	0.50269	0.21294896	0.45784	-6.344	0.49071	T	.	.	0.189	0.40650	B	.	.	4.784073	0.77568	26.7	0.99487688282733422	0.67235	0.97230	0.73460	D	AEFBI	0.813028	0.73561	D	0.439010585286741	0.63583	4.594759	0.487462776869659	0.67158	5.046715	0.999968282796807	0.48965	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	1.940000	0.39851	4.839000	0.45267	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.018	0.64051	507	0.75469	.	.	.	.	.	.	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	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003788	0.05	1917.43	35	chr1	42735103	.	C	A	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.837;DP=455;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.6;SOR=0.606	GT:AD:DP:GQ:PL	0/1:60,81:141:99:1929,0,1395	9	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4519.12	9	chr1	50419106	.	G	*	4519.12	.	AC=4;AF=0.2;AN=20;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.68;QD=26.27;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,7:11:99:1|0:50419101_CCGGCGG_C:507,108,147:50419101	6	0	4	0
chr1	52354636	52354636	T	C	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon23:c.A2402G:p.N801S,CC2D1B:NM_032449:exon23:c.A2420G:p.N807S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00133282530271	.	.	5.766e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs766423165	1.984e-05	1.984e-05	9.528e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0003	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.294	0.17643	T	0.618	0.07493	T	0.005	0.15093	B	0.004	0.14300	B	0.033894	0.24840	N	0.439021	0.995732	0.24536	N	-0.805	0.01590	N	1.8	0.25344	T	-0.16	0.10656	N	0.126	0.11912	-0.9901	0.32576	T	0.023	0.09832	T	10	0.04651904	0.03854	T	0.001333	0.01885	T	0.027	0.05988	0.21	0.12781	0.42324137094	0.41940	0.13179357836281844	0.13104	0.0254209843735	0.02595	0.390446722507	0.23733	T	0.008111	0.07462	T	-0.469757	0.00853	T	-0.596394	0.13117	T	0.0608958362273124	0.07308	T	0.826617	0.52582	T	0.03916748	0.05356	0.04122049	0.04637	0.03916748	0.05356	0.04122049	0.04637	-4.901	0.35746	T	.	.	0.067	0.02399	B	.;.	.;.	3.287470	0.45070	22.1	0.92724477676935968	0.22223	0.87802	0.47467	D	AEFDGBCI	0.398346	0.47406	N	-0.514866503826403	0.21599	1.147436	-0.300137274585664	0.28095	1.563784	0.532689977169904	0.21188	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	1.95	0.25130	3.047000	0.49544	2.006000	0.30143	0.665000	0.62972	0.985000	0.35982	0.994000	0.32194	0.998000	0.85391	0.0:0.0833:0.5013:0.4154	8.264	0.30962	353	0.85335	C2 domain|C2 domain|Freud, C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1890.43	38	chr1	52354636	.	T	C	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.624;DP=520;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.888;SOR=0.523	GT:AD:DP:GQ:PL	0/1:83,77:160:99:1902,0,2116	9	0	1	0
chr1	52842935	52842935	G	A	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001004339:exon1:c.G52A:p.D18N	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00910013186126	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs773974324	2.685e-05	2.736e-05	2.005e-05	3.384e-05	0.0004	1.981e-05	1.73e-05	0.0003	0.0003	0	0	0	0	0	0	9.345e-07	3.501e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.04315	T	0.937	0.02717	T	0.001	0.07471	B	0.001	0.04355	B	0.978154	0.07822	U	1.017410	1	0.22293	N	2.015	0.55033	M	0.89	0.45636	T	0.05	0.06369	N	0.131	0.12627	-1.0199	0.23747	T	0.040	0.17277	T	10	0.032410026	0.01392	T	0.009	0.23941	T	0.034	0.08419	0.316	0.29258	0.0297737177859	0.01360	0.20247039688920043	0.20164	.	.	0.512692689896	0.40599	T	6.37E-4	0.00271	T	-0.576791	0.00202	T	-0.703263	0.05649	T	0.0558023149029575	0.06491	T	0.50475	0.15921	T	0.056431897	0.11102	0.039195206	0.03959	0.056431897	0.11102	0.039195206	0.03959	-3.972	0.23383	T	.	.	0.084	0.09868	B	.	.	2.592653	0.33639	19.40	0.97401481211286545	0.33775	0.10028	0.15645	N	ALL	0.032713	0.03746	N	-1.02886156652168	0.08008	0.3740196	-0.990210008759024	0.10005	0.5011651	0.999999999770937	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.17	0.883	0.18312	0.782000	0.26449	3.554000	0.39061	0.526000	0.24426	0.976000	0.34826	1.000000	0.68203	0.642000	0.32476	0.1222:0.2057:0.4607:0.2114	1.849	0.02974	145	0.94217	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1215.43	36	chr1	52842935	.	G	A	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.814;DP=431;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.467;SOR=0.483	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1227,0,1482	9	0	1	0
chr1	54787794	54787794	T	A	exonic	TTC22	.	nonsynonymous SNV	TTC22:NM_001114108:exon3:c.A656T:p.E219V,TTC22:NM_017904:exon3:c.A656T:p.E219V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0160732917993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005603016	1.37e-06	1.368e-06	0	2.754e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.27426	T	0.22	0.26226	T	0.089	0.27697	B	0.064	0.31370	B	0.009049	0.30540	N	0.352193	0.90549	0.36276	D	1.265	0.31966	L	0.79	0.49358	T	-1.03	0.28906	N	0.449	0.50868	-0.9724	0.36691	T	0.091	0.34847	T	10	0.17210057	0.31964	T	0.016073	0.37142	T	0.102	0.29158	0.233	0.16155	0.471211772063	0.46748	0.44383717701725617	0.44301	0.359318294384	0.37625	0.394331395626	0.24278	T	0.007612	0.07006	T	-0.089681	0.38129	T	-0.366597	0.37285	T	0.434821963310242	0.30239	T	0.676632	0.28519	T	0.17932193	0.38998	0.10074232	0.24096	0.17932193	0.38997	0.10074232	0.24095	-5.806	0.44626	T	.	.	0.178	0.40984	B	.;.	.;.	2.756729	0.36146	20.2	0.98631195948692663	0.43920	0.74181	0.36285	D	AEFDBI	0.239854	0.36174	N	-0.207970728678835	0.32808	1.854285	-0.0541330228765595	0.37312	2.182948	0.998520428591714	0.37129	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	2.029000	0.40718	3.336000	0.37667	0.561000	0.28422	0.958000	0.33488	0.999000	0.35428	0.992000	0.67800	0.0:0.0:0.0:1.0	11.427	0.49261	928	0.17405	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	647.43	34	chr1	54787794	.	T	A	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.324;DP=398;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.077;SOR=0.771	GT:AD:DP:GQ:PL	0/1:35,31:66:99:659,0,789	9	0	1	0
chr1	56912476	56912476	G	A	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon10:c.G1454A:p.R485H	C8 deficiency, type I, Autosomal recessive	1	1291	192	7	31	237	0.0738881	.	.	.	719027	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.308	0.0660108524126	.	0.000599042	0.0018	0.0002	0.0020	0.0001	0	0.0021	0.0011	0.0033	0.0015782	244	154602	rs1620075	0.0013	0.0013	0.0011	0.0014	0.0257	0.0012	0.0012	0.0223	0.0210	0.0003	0.0023	0.0090	0.0001	1.872e-05	0.0257	0.0008	0.0029	0.0038	0.0012	0.0012	0.0012	0.0012	0.0025	0.0011	0.0010	0.0019	0.0017	0.0005	0	0.0025	0.0075	0	0	0.0068	0.0012	0.0019	0.0025	0.037	0.43085	D	0.015	0.61642	D	0.24	0.30857	B	0.071	0.27960	B	0.000972	0.40836	N	0.258044	1	0.08975	P	3.27	0.90083	M	-1.95	0.85003	D	-3.65	0.69950	D	0.179	0.19325	0.005	0.82361	D	0.573	0.84581	D	9	0.0131421685	0.00280	T	0.066011	0.69750	D	0.308	0.62947	.	.	0.789046042334	0.78708	0.6761076518119528	0.67548	0.0419906102033	0.04514	0.198301255703	0.00409	T	0.332225	0.70221	T	-0.378979	0.03162	T	-0.314819	0.43139	T	0.0836411425669685	0.10446	T	0.626737	0.24270	T	0.5649618	0.70783	0.4834557	0.70095	0.5649618	0.70784	0.4834557	0.70095	-9.295	0.69576	D	.	.	0.095	0.14842	B	.	.	1.105418	0.14901	11.42	0.96304848799729081	0.29360	0.07715	0.13717	N	AEFBI	0.602280	0.59420	D	-1.00260874437502	0.08549	0.4012821	-1.08640013410403	0.07967	0.3897349	0.989464276781133	0.31835	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	0.696	0.17237	0.252000	0.18046	-1.678000	0.04932	-0.682000	0.04210	0.001000	0.13787	0.000000	0.08366	0.194000	0.21720	0.4218:0.0:0.5782:0.0	12.471	0.55127	880	0.29376	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	3553.16	35	chr1	56912476	.	G	A	3553.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.83;DP=555;ExcessHet=0.2348;FS=1.534;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.43;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,57:109:99:.:.:1305,0,1170:.	9	0	1	0
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.05	1161.43	33	chr1	68438977	.	A	C	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=394;ExcessHet=0;FS=5.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.078;SOR=1.063	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1173,0,784	9	0	1	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2360C:p.I787T,FPGT-TNNI3K:NM_001199327:exon23:c.T2360C:p.I787T	.	426	999	89	8	0	105	0.0499287	.	.	.	983822	not_specified|not_provided|TNNI3K-related_disorder|Atrial_conduction_disease	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.015152	0.025815	0.014620	0.000000	0.025862	0.030488	0.041667	0.05	3030.43	39	chr1	74463486	.	T	C	3030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=563;ExcessHet=0;FS=0.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.701;SOR=0.677	GT:AD:DP:GQ:PL	0/1:120,125:245:99:3042,0,2947	9	0	1	0
chr1	78046276	78046276	C	T	exonic	GIPC2	.	nonsynonymous SNV	GIPC2:NM_017655:exon1:c.C182T:p.S61F	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	0.0005	0.0375399	0.0191	0.0010	0.0009	0.0888	0.0002	0.0007	0.0153	0.0791	0.0147993	2288	154602	rs17101180	0.0080	0.0080	0.0062	0.0099	0.1125	0.0079	0.0078	0.1097	0.1086	0.0006	0.0009	0.0044	0.1125	3.817e-05	0.0032	0.0002	0.0141	0.0688	0.0064	0.0065	0.0051	0.0079	0.0943	0.0061	0.0060	0.0874	0.0846	0.0012	0	0.0022	0.0029	0.0943	9.425e-05	0.0034	0.0002	0.0109	0.0752	0.001	0.78490	D	0.004	0.74150	D	0.61	0.39628	P	0.265	0.39681	B	0.034026	0.24822	N	0.426776	0.873566	0.35610	D	2.485	0.72352	M	-1.6	0.82165	D	-3.62	0.69593	D	0.074	0.04790	-0.0832	0.80482	T	0.387	0.74180	T	10	0.002834022	0.00045	T	.	.	.	0.332	0.65424	.	.	.	.	0.40153439069355695	0.40069	0.423830427067	0.42828	0.471358656883	0.34868	T	0.291844	0.66458	T	-0.407502	0.02065	T	-0.215847	0.53135	T	0.0482287549782519	0.05185	T	0.962704	0.86103	D	0.5242075	0.68500	0.44337794	0.67556	0.5242075	0.68501	0.44337794	0.67556	-7.978	0.60920	D	.	.	0.214	0.44253	B	.	.	3.941133	0.57670	23.9	0.99238152381201261	0.56437	0.84458	0.43540	D	AEFDBHCI	0.628365	0.61048	D	0.131085543399481	0.47916	3.010826	0.141253056345753	0.46680	2.910128	0.999999904777494	0.74766	0.685219	0.55550	0	0.491552	0.07993	0	0.674405	0.61402	0	0.375	0.06713	1	.	.	3.8	3.8	0.42887	0.639000	0.24378	2.526000	0.33144	0.522000	0.23927	0.223000	0.24568	0.180000	0.23413	0.950000	0.49671	0.0:0.7671:0.2329:0.0	12.157	0.53388	306	0.87689	.	.	.	.	.	.	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	0.008586	0.000000	0.000000	0.008772	0.000000	0.000000	0.012195	0.026515	0.05	825.43	33	chr1	78046276	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.208;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.077;SOR=0.813	GT:AD:DP:GQ:PL	0/1:25,34:59:99:837,0,610	9	0	1	0
chr1	84144471	84144471	C	T	exonic	PRKACB	.	nonsynonymous SNV	PRKACB:NM_001300916:exon1:c.C110T:p.T37I,PRKACB:NM_182948:exon1:c.C110T:p.T37I	.	434	1082	5	1	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	7.7e-05	0.00259585	0.0013	0	8.639e-05	0	0	5.994e-05	0.0044	0.0090	0.0011255	174	154602	rs369346119	0.0006	0.0006	0.0004	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	0	4.515e-05	0	2.529e-05	0	0.0005	6.479e-05	0.0007	0.0091	0.0004	0.0004	0.0002	0.0005	0.0093	0.0003	0.0003	0.0072	0.0064	4.812e-05	0	0.0001	0	0	0	0	5.883e-05	0.0009	0.0093	0.058	0.37750	T	0.242	0.24264	T	0.13	0.27095	B	0.051	0.25434	B	0.115585	0.19228	N	0.561549	0.998107	0.44513	D	.	.	.	-0.27	0.67367	T	-0.43	0.14390	N	0.321	0.36148	-1.0349	0.18888	T	0.071	0.28969	T	10	0.003213942	0.00055	T	.	.	.	0.037	0.09474	.	.	0.47083157667	0.46712	0.2539837330481664	0.25312	0.913198446343	0.71136	0.31208562851	0.12222	T	.	.	.	-0.449062	0.01144	T	-0.412273	0.31963	T	0.0266153485007175	0.01490	T	0.726327	0.34071	T	.	.	.	.	.	.	.	.	-4.252	0.27499	T	.	.	0.072	0.04238	B	.	.	1.988880	0.25265	16.70	0.99474924919303975	0.66525	0.16854	0.19579	N	ALL	0.096939	0.19561	N	-0.418171231056342	0.24833	1.343643	-0.25445033708138	0.29618	1.660824	0.999999996097718	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.573888	0.23631	0	0.56214	0.19341	0	.	.	5.56	4.65	0.57626	1.544000	0.35764	2.712000	0.34244	-0.177000	0.10537	0.120000	0.23175	0.035000	0.21413	0.985000	0.61073	0.0:0.7899:0.1377:0.0724	11.059	0.47153	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1421.43	33	chr1	84144471	.	C	T	1421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=432;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.443;SOR=0.79	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1433,0,1277	9	0	1	0
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.010070	0.000000	0.016304	0.002924	0.050000	0.017241	0.006098	0.015152	0.1	2130.14	34	chr1	86489017	.	A	G	2130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.151;DP=456;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.501;SOR=0.474	GT:AD:DP:GQ:PL	0/1:42,39:81:99:882,0,978	8	0	2	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,216:216:99:.:.:9206,651,0:.	1	5	4	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1444.51	152	chr1	99884396	.	T	C	1444.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.239;DP=804;ExcessHet=2.8389;FS=173.721;InbreedingCoeff=-0.358;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=1.43;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,7:57:19:0|1:99884396_T_C:19,0,1636:99884396	5	0	5	0
chr1	111350138	111350138	C	T	exonic	PIFO	.	nonsynonymous SNV	PIFO:NM_001300831:exon4:c.C323T:p.P108L,PIFO:NM_181643:exon5:c.C422T:p.P141L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.011702318135	0.0002	0.000199681	0.0001	0.0006	0.0005	0	0	1.499e-05	0	0	9.06e-05	14	154602	rs371024578	5.404e-05	5.404e-05	6.807e-05	3.988e-05	0.0005	4.41e-05	4.082e-05	0.0003	0.0003	0.0005	0.0005	0	7.558e-05	0	0	2.069e-05	6.623e-05	0.0001	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0.0002	9.427e-05	0	2.941e-05	0	0	0.086	0.32610	T	0.182	0.30631	T	0.951	0.53992	P	0.451	0.46123	P	0.275103	0.15052	N	0.662254	1	0.08975	N	1.87	0.49600	L	1.97	0.30133	T	-4.23	0.77143	D	0.282	0.38027	-1.0685	0.09746	T	0.035	0.15074	T	10	0.06714967	0.09314	T	0.011702	0.29585	T	0.063	0.18251	.	.	0.229924730088	0.22615	0.24026271498202895	0.23940	0.131956524473	0.14876	0.316593408585	0.12905	T	0.443435	0.78723	T	-0.478816	0.00751	T	-0.568078	0.15627	T	0.0928854034203194	0.11556	T	0.693531	0.30321	T	0.04693368	0.07938	0.06453926	0.12951	0.04693368	0.07938	0.06453926	0.12950	-5.061	0.37495	T	.	.	0.075	0.05668	B	.;.	.;.	0.814513	0.11854	8.423	0.95698899284553807	0.27587	0.03975	0.09388	N	AEFBI	0.045276	0.07385	N	-0.510296531328316	0.21745	1.156336	-0.660524281140271	0.17952	0.9568344	0.0125962015049366	0.12349	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	6.08	2.09	0.26154	0.312000	0.19147	-0.201000	0.10944	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.1677:0.588:0.0:0.2443	4.375	0.10700	847	0.35998	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	552.43	33	chr1	111350138	.	C	T	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=363;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.621;SOR=0.776	GT:AD:DP:GQ:PL	0/1:26,23:49:99:564,0,595	9	0	1	0
chr1	112654521	112654521	C	G	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon5:c.C276G:p.N92K	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00489732662432	0.0002	0.000199681	0.0005	0.0002	8.66e-05	0	0	1.499e-05	0.0011	0.0036	0.0004398	68	154602	rs371346893	0.0002	0.0002	8.712e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0010	6.295e-06	0.0001	0.0030	9.856e-05	9.843e-05	7.714e-05	0.0001	0.0021	6.006e-05	4.88e-05	0.0011	0.0009	7.226e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.049	0.39820	D	0.028	0.54934	D	0.991	0.64070	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	0.964683	0.38422	D	1.965	0.53209	M	.	.	.	-2.13	0.48354	N	0.367	0.40864	-0.7727	0.56709	T	0.215	0.57718	T	9	0.019715786	0.00444	T	0.004897	0.12318	T	0.146	0.38789	0.525	0.62967	0.59497832424	0.59176	0.6249348457931955	0.62426	0.31274946095	0.33575	0.729423701763	0.71421	T	0.07272	0.34524	T	-0.458839	0.01000	T	-0.434603	0.29414	T	0.102700732224491	0.12652	T	0.936906	0.76326	D	0.42611736	0.62497	0.3784169	0.62920	0.42611736	0.62497	0.3784169	0.62920	-3.303	0.13776	T	.	.	0.392	0.59148	A	.	.	3.735130	0.53455	23.4	0.99545412633999852	0.70773	0.95734	0.65927	D	AEFGBI	0.716795	0.66852	D	0.54118286559011	0.69545	5.372449	0.509471069495419	0.68624	5.246093	0.0201003894572361	0.13225	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	3.77	0.42499	2.740000	0.47092	2.703000	0.34176	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8369:0.0:0.1631	9.812	0.39996	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1143.43	35	chr1	112654521	.	C	G	1143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-1.047;SOR=0.614	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1155,0,815	9	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	722.66	82	chr1	112913901	.	C	G	722.66	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.427;DP=779;ExcessHet=1.5895;FS=141.989;InbreedingCoeff=-0.276;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.02;ReadPosRankSum=2.09;SOR=7.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:41:0|1:112913900_A_G:41,0,2850:112913900	6	0	4	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:78,32:124:99:166,0,1148	0	0	10	0
chr1	114860747	114860747	C	T	exonic	SYCP1	.	nonsynonymous SNV	SYCP1:NM_001282541:exon8:c.C536T:p.T179I,SYCP1:NM_001282542:exon8:c.C536T:p.T179I,SYCP1:NM_003176:exon8:c.C536T:p.T179I	.	452	1052	18	0	0	18	0.00848256	.	.	.	745588	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	0.0141348020109	0.0012	0.000599042	0.0020	0	0.0005	0	0	0.0022	0.0060	0.0054	0.001533	237	154602	rs150451249	0.0015	0.0015	0.0013	0.0017	0.0111	0.0014	0.0014	0.0086	0.0078	0.0002	0.0004	0.0033	2.569e-05	0.0001	0.0111	0.0012	0.0020	0.0059	0.0010	0.0010	0.0010	0.0011	0.0048	0.0009	0.0008	0.0033	0.0028	0.0001	0	0.0010	0.0043	0	9.446e-05	0.0102	0.0013	0.0009	0.0048	0.002	0.72154	D	0.139	0.37449	T	1.0	0.90584	D	0.979	0.74454	D	0.000014	0.62929	D	0.112628	0.987196	0.40550	D	2.085	0.57729	M	0.56	0.54540	T	-2.44	0.63090	N	0.638	0.67564	-0.9053	0.47412	T	0.184	0.53285	T	10	0.0132445395	0.00282	T	0.014135	0.34055	T	0.281	0.59861	.	.	0.278043722374	0.27408	0.7670947493717172	0.76658	0.602018099317	0.55225	0.567115843296	0.48271	T	0.244099	0.61315	T	-0.222791	0.17613	T	-0.0904664	0.64127	T	0.0489172973655172	0.05308	T	0.791621	0.57032	T	0.59118	0.72215	0.5723019	0.75230	0.59118	0.72216	0.5723019	0.75231	-3.09	0.11182	T	.	.	0.497	0.67008	A	.;.;.;.;.	.;.;.;.;.	4.416453	0.68366	25.2	0.99858438954959727	0.93729	0.94169	0.60322	D	AEFDI	0.499265	0.53302	N	0.525027145739938	0.68573	5.235982	0.508771397051291	0.68580	5.239554	0.0193736205149413	0.13156	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	3.97	0.45241	3.565000	0.53543	3.967000	0.40794	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9177:0.0:0.0823	12.620	0.55958	843	0.36859	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005435	0.005848	0.000000	0.008621	0.009146	0.003788	0.05	419.43	33	chr1	114860747	.	C	T	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.494;SOR=0.733	GT:AD:DP:GQ:PL	0/1:34,21:55:99:431,0,723	9	0	1	0
chr1	119743997	119743997	C	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon12:c.C1559A:p.A520E	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	718144	Inborn_genetic_diseases|PHGDH_deficiency|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0486002953822	0.0012	0.000399361	0.0009	0.0013	0.0010	0	0	0.0011	0.0011	0.0007	0.0008861	137	154602	rs151275800	0.0007	0.0007	0.0007	0.0007	0.0125	0.0007	0.0006	0.0102	0.0093	0.0011	0.0016	0.0069	0	0	0.0125	0.0004	0.0015	0.0011	0.0010	0.0010	0.0008	0.0012	0.0031	0.0009	0.0008	0.0024	0.0022	0.0008	0	0.0031	0.0075	0	0	0.0204	0.0004	0.0028	0.0006	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.566532	0.11282	N	0.828739	1	0.08975	N	1.04	0.26193	L	.	.	.	.	.	.	.	.	-0.8318	0.53185	T	0.234	0.60026	T	10	0.006540984	0.00148	T	0.049	0.63443	D	.	.	.	.	.	.	0.6366318522980537	0.63597	.	.	0.245699360967	0.03328	T	0.349448	0.71730	T	-0.269329	0.11832	T	-0.184276	0.56125	T	0.00205499541875495	0.00021	T	0.606339	0.22935	T	0.10596267	0.25054	0.12344998	0.29768	0.08888882	0.20750	0.12371422	0.29829	-3.725	0.19688	T	0.15874933436553146	0.19257	0.11	0.21201	B	.;.;.;.	.;.;.;.	1.436049	0.18546	13.80	0.92638486417996646	0.22111	0.16378	0.19361	N	AEFDGBHCI	0.393475	0.47110	N	-0.986973232252806	0.08881	0.4181502	-0.933380390494312	0.11309	0.5753723	0.999999769944465	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.81	2.93	0.33092	0.593000	0.23700	1.025000	0.23435	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.851000	0.40252	0.1652:0.6653:0.0:0.1696	5.167	0.14419	755	0.51144	.;.;.;.	.	.	.	.	.	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	0.010070	0.005051	0.016304	0.014620	0.000000	0.008621	0.000000	0.011364	0.05	505.43	33	chr1	119743997	.	C	A	505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.103;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.97;SOR=0.719	GT:AD:DP:GQ:PL	0/1:30,23:53:99:517,0,697	9	0	1	0
chr1	119841481	119841481	G	A	exonic	NBPF7	.	nonsynonymous SNV	NBPF7:NM_001047980:exon3:c.C458T:p.P153L	.	425	1081	16	0	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.014377	0.0084	0.0004	0.0008	0.0010	0	0.0001	0.0055	0.0592	0.0072832	1126	154602	rs183775485	0.0037	0.0037	0.0022	0.0053	0.0571	0.0037	0.0036	0.0558	0.0552	0.0005	0.0003	3.963e-05	0.0024	0	0.0013	9.113e-05	0.0042	0.0571	0.0021	0.0021	0.0012	0.0031	0.0628	0.0019	0.0019	0.0570	0.0547	0.0002	0	6.533e-05	0	0.0014	0	0	7.352e-05	0	0.0628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005040	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.026515	0.1	2550.14	34	chr1	119841481	.	G	A	2550.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=541;ExcessHet=0.2348;FS=0.987;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.332;SOR=0.779	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1270,0,1538	8	0	2	0
chr1	120809819	120809819	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.G502A:p.E168K	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335706926	0.0029	0.0032	0.0017	0.0041	0.0431	0.0028	0.0028	0.0420	0.0415	0.0005	0.0002	0.0001	0.0014	1.97e-05	0.0009	0.0002	0.0027	0.0431	0.0016	0.0015	0.0008	0.0024	0.0413	0.0014	0.0013	0.0364	0.0345	0.0002	0	7.404e-05	0	0.0022	0	0	6.383e-05	0.0005	0.0413	.	.	.	0.095	0.41239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.21839	.	.	.	.	.	.	.	0.0061796606	0.00139	T	.	.	.	.	.	.	.	.	.	0.03486794252730376	0.03433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23570	B	.;.;.;.;.	.;.;.;.;.	1.558948	0.19974	14.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356000	0.19918	-3.305000	0.02891	-0.588000	0.04664	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1487.43	33	chr1	120809819	.	G	A	1487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=653;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.12;MQRankSum=0.342;QD=4.55;ReadPosRankSum=0.058;SOR=0.81	GT:AD:DP:GQ:PL	0/1:241,86:327:99:1499,0,5844	9	0	1	0
chr1	120816099	120816099	G	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon9:c.G1321C:p.D441H	.	585	934	3	0	0	3	0.00160342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782267140	0	1.044e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.58089	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.183	0.20528	-1.0610	0.11508	T	0.031	0.13461	T	8	0.045099497	0.03541	T	6.87E-4	0.00418	T	.	.	.	.	0.0401082797425	0.02173	0.05911318449030083	0.05851	.	.	.	.	.	.	.	.	-0.201154	0.20637	T	-0.52672	0.19615	T	0.0180034953860746	0.00525	T	0.867613	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.48417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.372530	0.30443	18.44	0.85241240877536939	0.15771	0.02757	0.07446	N	AEFBI	0.048833	0.08373	N	-1.23152176354792	0.04549	0.2055356	-1.33487542808804	0.03987	0.1871405	0.986366715889318	0.31051	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	0.394	-0.788	0.10387	0.921000	0.28338	.	.	0.221000	0.18078	0.810000	0.29852	.	.	0.022000	0.11911	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	200.17	37	chr1	120816099	.	G	C	200.17	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=237;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.05;MQ=26.01;MQRankSum=0.567;QD=7.7;ReadPosRankSum=0.312;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:120816095_C_T:48,0,498:120816095	9	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,21:111:89:0|1:145872713_C_G:89,0,2794:145872713	4	0	6	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,21:111:89:0|1:145872713_C_G:89,0,2794:145872713	4	0	6	0
chr1	146069593	146069593	G	A	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.C10253T:p.A3418V,NBPF10:NM_001302371:exon86:c.C10760T:p.A3587V	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000170635889396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.141e-06	5.478e-06	1.425e-06	2.859e-06	1.171e-05	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.418e-07	1.733e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.23253	.	.	.	.	.	.	.	0.084786475	0.14246	T	.	.	.	.	.	.	.	.	.	0.007021671449392839	0.00669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70353	0.31362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.65386	A	.;.	.;.	-0.181597	0.03186	0.524	.	.	.	.	.	.	0.021174	0.00915	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.041000	0.12036	-5.881000	0.01565	-0.842000	0.02783	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	230.43	47	chr1	146069593	.	G	A	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=766;ExcessHet=0;FS=9.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.1;MQRankSum=1.83;QD=1.62;ReadPosRankSum=0.316;SOR=1.747	GT:AD:DP:GQ:PL	0/1:118,24:142:99:242,0,2965	9	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:280,87:367:99:1380,0,7101	3	0	7	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C,NBPF9:NM_001277444:exon3:c.T206G:p.F69C	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	823.14	232	chr1	149080125	.	A	C	823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.97;DP=1527;ExcessHet=0.2348;FS=1.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=35.95;MQRankSum=-1.631;QD=2.12;ReadPosRankSum=-0.641;SOR=0.814	GT:AD:DP:GQ:PL	0/1:203,32:235:99:160,0,6309	8	0	2	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	44.43	91	chr1	149476000	.	C	A	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.47;DP=729;ExcessHet=0;FS=34.039;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.35;MQRankSum=-3.164;QD=0.44;ReadPosRankSum=-2.627;SOR=3.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,8:101:56:0|1:149475995_C_T:56,0,3845:149475995	9	0	1	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	151.3	91	chr1	149476006	.	G	A	151.3	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.87;DP=868;ExcessHet=0.2348;FS=25.359;InbreedingCoeff=-0.1181;MLEAC=2;MLEAF=0.1;MQ=35.83;MQRankSum=-2.675;QD=0.56;ReadPosRankSum=-3.021;SOR=3.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,10:108:99:0|1:149475995_C_T:115,0,3968:149475995	8	0	2	0
chr1	149784224	149784224	C	T	exonic	FCGR1A	.	stopgain	FCGR1A:NM_001378805:exon2:c.C253T:p.R85X,FCGR1A:NM_000566:exon3:c.C274T:p.R92X,FCGR1A:NM_001378804:exon3:c.C277T:p.R93X,FCGR1A:NM_001378806:exon3:c.C274T:p.R92X,FCGR1A:NM_001378807:exon3:c.C205T:p.R69X,FCGR1A:NM_001378808:exon3:c.C274T:p.R92X	.	549	957	15	1	0	17	0.00880373	.	.	.	29865	IGG_receptor_I,_phagocytic,_familial_deficiency_of|FCGR1A-related_disorder|not_provided	MedGen:C4016211|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0039	0.00379393	0.0053	0.0024	0.0031	0.0001	0.0008	0.0073	0	0.0051	0.0018826	49	26028	rs74315310	0.0060	0.0060	0.0060	0.0060	0.0071	0.0059	0.0059	0.0070	0.0069	0.0010	0.0031	0.0002	0.0001	0.0008	0.0039	0.0071	0.0050	0.0044	0.0039	0.0039	0.0042	0.0035	0.0065	0.0036	0.0035	0.0060	0.0058	0.0012	0.0033	0.0044	0	0.0002	0.0004	0	0.0065	0.0033	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	0.695922	0.06174	U	1.534420	0.365482	0.81001	A	.	.	.	.	.	.	.	.	.	0.506	0.53796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236812	0.77361	D	0.57	0.96224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.226777	0.87732	29.3	0.99636223221745535	0.76387	0.05200	0.11024	N	AEFBI	0.041883	0.06426	N	0.090000491387709	0.45997	2.847056	-0.259691889045464	0.29438	1.649333	0.987842867946595	0.31355	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.13	3.13	0.35090	0.368000	0.20132	0.770000	0.21388	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	10.438	0.43636	556	0.71678	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0.003067	0.008772	0.002755	0.004425	0.000000	0.000000	0.000000	0.000000	0.05	734.43	33	chr1	149784224	.	C	T	734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=374;ExcessHet=0;FS=7.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.38;MQRankSum=-1.254;QD=12.45;ReadPosRankSum=0.645;SOR=1.619	GT:AD:DP:GQ:PL	0/1:28,31:59:99:746,0,601	9	0	1	0
chr1	149936633	149936633	-	C	exonic	MTMR11	.	frameshift insertion	MTMR11:NM_001145862:exon1:c.14dupG:p.R6Pfs*23	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00259585	0.0020	0.0005	0.0026	0.0017	0	0.0039	0	0.0005	0.0001153	3	26028	rs587606143	0.0060	0.0058	0.0062	0.0057	0.0050	0.0059	0.0058	0.0049	0.0048	0.0005	0.0008	0.0007	0.0002	0.0533	0.0011	0.0050	0.0038	0.0005	0.0071	0.0072	0.0050	0.0093	0.0057	0.0067	0.0066	0.0052	0.0050	0.0007	0	0.0011	0.0014	0.0008	0.0591	0.0034	0.0057	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	991.1	36	chr1	149936633	.	G	GC	991.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.424;DP=340;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.233;SOR=0.606	GT:AD:DP:GQ:PL	0/1:12,18:30:99:459,0,278	8	0	2	0
chr1	150226675	150226675	-	CTTCAT	exonic	ANP32E	.	nonframeshift insertion	ANP32E:NM_001136478:exon4:c.490_491insATGAAG:p.E163_A164insDE,ANP32E:NM_001280560:exon4:c.447_448insATGAAG:p.K149_Q150insMK,ANP32E:NM_001136479:exon5:c.469_470insATGAAG:p.E156_A157insDE,ANP32E:NM_001280559:exon5:c.613_614insATGAAG:p.E204_A205insDE,ANP32E:NM_030920:exon5:c.613_614insATGAAG:p.E204_A205insDE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.612e-05	0	0	0	0.0003	0	0	0.0001229	19	154602	rs782472960	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.005e-05	2.237e-05	0	0	5.622e-05	0	0.0002	0.0002	1.162e-05	8.63e-05	8.538e-05	7.774e-05	9.528e-05	0.0002	5.006e-05	4e-05	9.095e-05	7.046e-05	4.851e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1840.39	35	chr1	150226675	.	G	GCTTCAT	1840.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.595;SOR=0.637	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1852,0,1944	9	0	1	0
chr1	150997338	150997338	-	GCT	exonic	MINDY1	.	nonframeshift insertion	MINDY1:NM_001376669:exon9:c.1199_1200insAGC:p.A400_G401insA,MINDY1:NM_001376670:exon9:c.1172_1173insAGC:p.A391_G392insA,MINDY1:NM_001376671:exon9:c.863_864insAGC:p.A288_G289insA,MINDY1:NM_001376672:exon9:c.860_861insAGC:p.A287_G288insA,MINDY1:NM_001376674:exon9:c.833_834insAGC:p.A278_G279insA,MINDY1:NM_001040217:exon10:c.932_933insAGC:p.A311_G312insA,MINDY1:NM_001163259:exon10:c.1073_1074insAGC:p.A358_G359insA,MINDY1:NM_001163260:exon10:c.932_933insAGC:p.A311_G312insA,MINDY1:NM_001376664:exon10:c.1361_1362insAGC:p.A454_G455insA,MINDY1:NM_001376665:exon10:c.1358_1359insAGC:p.A453_G454insA,MINDY1:NM_001376666:exon10:c.1334_1335insAGC:p.A445_G446insA,MINDY1:NM_001376667:exon10:c.1331_1332insAGC:p.A444_G445insA,MINDY1:NM_001376668:exon10:c.1331_1332insAGC:p.A444_G445insA,MINDY1:NM_001376673:exon10:c.860_861insAGC:p.A287_G288insA,MINDY1:NM_001163258:exon11:c.1502_1503insAGC:p.A501_G502insA,MINDY1:NM_001319998:exon11:c.1358_1359insAGC:p.A453_G454insA,MINDY1:NM_018379:exon11:c.1358_1359insAGC:p.A453_G454insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1717.39	35	chr1	150997338	.	G	GGCT	1717.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=427;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.927;SOR=0.754	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1729,0,2667	9	0	1	0
chr1	151520656	151520656	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon5:c.G1105A:p.E369K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0156595869551	.	.	7.828e-05	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs764215568	2.531e-05	2.531e-05	1.089e-05	3.988e-05	0.0004	1.868e-05	1.631e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.566	0.08930	T	.	.	.	.	.	.	0.007240	0.31521	N	0.331639	0.791143	0.34388	D	.	.	.	-0.1	0.64264	T	-0.99	0.26200	N	0.379	0.42050	-0.7062	0.60139	T	0.233	0.59990	T	10	0.1956881	0.35430	T	0.01566	0.36515	T	0.157	0.40909	.	.	0.549671953984	0.54624	0.08188064297400582	0.08123	0.185886267333	0.20899	0.440113395452	0.30592	T	.	.	.	-0.237901	0.15617	T	-0.257539	0.49069	T	0.167543388294002	0.18412	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.17146	B	.	.	3.837979	0.55523	23.6	0.99932449173019589	0.99439	0.86848	0.46220	D	AEFBHCI	0.407151	0.47935	N	0.322441500959238	0.57301	3.897045	0.364721735659672	0.59400	4.117427	0.999998295822769	0.74766	0.706548	0.73137	0	0.61073	0.52368	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	3.731000	0.54739	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	17.504	0.87636	415	0.81806	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	978.43	39	chr1	151520656	.	G	A	978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.063;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.157;SOR=0.726	GT:AD:DP:GQ:PL	0/1:67,45:112:99:990,0,1692	9	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,12:128:99:0|1:152214821_T_A:128,0,4776:152214821	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,12:128:99:0|1:152214821_T_A:128,0,4776:152214821	4	0	6	0
chr1	152218546	152218546	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3083A:p.R1028K	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00205941874828	0.0005	0.000399361	0.0006	9.61e-05	0.0005	0.0002	0	0.0003	0.0011	0.0027	0.0004916	76	154602	rs139825906	0.0005	0.0005	0.0004	0.0006	0.0033	0.0005	0.0005	0.0029	0.0028	2.987e-05	0.0006	0.0011	0	1.872e-05	0.0016	0.0004	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.23e-05	0	0.0003	0.0012	0	0	0	0.0003	0.0005	0.0023	1.0	0.00964	T	0.997	0.02325	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.51	0.02015	T	-0.49	0.15578	N	0.1	0.08227	-0.9403	0.42568	T	0.001	0.00438	T	9	0.009475589	0.00214	T	0.002059	0.03775	T	0.012	0.01476	.	.	0.301455362545	0.29754	0.0052821143759877445	0.00499	.	.	0.539631009102	0.44393	T	0.016013	0.13319	T	-0.680243	0.00048	T	-0.753577	0.03349	T	0.00397605125544285	0.00042	T	0.180382	0.01798	T	0.064437516	0.13672	0.05156177	0.08322	0.064437516	0.13671	0.05156177	0.08321	-6.278	0.48548	T	.	.	0.145	0.31882	B	.	.	0.113539	0.05123	1.652	0.5233946700520915	0.04729	0.00637	0.02791	N	AEFBI	0.032491	0.03683	N	-1.50900998435382	0.01790	0.07843129	-1.54717309693685	0.01995	0.09115902	1.30687003692073E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-0.934	0.09897	-0.294000	0.08346	.	.	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.506:0.0:0.494	6.410	0.20889	569	0.70546	.	.	.	.	.	.	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	0.001587	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.1	8704.14	304	chr1	152218546	.	C	T	8704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.04;DP=2320;ExcessHet=0.2348;FS=2.415;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.15;MQRankSum=-0.556;QD=12.38;ReadPosRankSum=-0.911;SOR=0.757	GT:AD:DP:GQ:PL	0/1:158,184:342:99:4815,0,4005	8	0	2	0
chr1	152303212	152303212	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11674T:p.R3892W	Ichthyosis vulgaris, Autosomal dominant	0	1465	57	0	0	57	0.0190827	.	.	.	1195846	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.00554769908557	0.0016	0.00159744	0.0027	0.0005	0.0010	0.0002	0.0054	0.0021	0.0044	0.0076	0.0023415	362	154602	rs141128022	0.0021	0.0021	0.0018	0.0024	0.0089	0.0020	0.0020	0.0084	0.0082	0.0003	0.0016	0.0083	2.519e-05	0.0048	0.0062	0.0014	0.0029	0.0089	0.0018	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0004	0	0.0018	0.0081	0	0.0061	0.0068	0.0016	0.0019	0.0060	0.107	0.29554	T	.	.	.	0.964	0.55854	D	0.183	0.35961	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.66	0.01756	T	-0.69	0.19720	N	0.142	0.14196	-0.8597	0.51284	T	0.002	0.00526	T	9	0.0057953596	0.00129	T	0.005548	0.14319	T	0.082	0.23913	.	.	0.328222422547	0.32431	0.015331430378345676	0.01489	.	.	0.205580681562	0.00637	T	0.027624	0.20190	T	-0.616504	0.00115	T	-0.652933	0.08750	T	0.0155825827814693	0.00355	T	0.49745	0.15470	T	0.04290102	0.06590	0.030120097	0.01429	0.04290102	0.06589	0.030120097	0.01428	-6.245	0.48285	T	.	.	0.160	0.35456	B	.	.	2.053606	0.26105	17.00	0.98448850519908393	0.41598	0.06603	0.12618	N	AEFBI	0.077473	0.15610	N	-0.566929061247806	0.19955	1.048469	-0.755836527502834	0.15580	0.8200499	1.46969122758361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.17	1.13	0.19758	1.153000	0.31287	.	.	0.613000	0.49114	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.676:0.324	5.602	0.16640	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.000000	0.050000	0.017241	0.009146	0.011364	0.1	7164.14	33	chr1	152303212	.	G	A	7164.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=832;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.728;SOR=0.547	GT:AD:DP:GQ:PL	0/1:135,124:259:99:3330,0,3333	8	0	2	0
chr1	152315447	152315447	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon2:c.C10A:p.L4I	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00526669732699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.841e-07	0	1.378e-06	1.167e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.788	0.44546	P	0.526	0.48415	P	.	.	.	.	1	0.08975	N	2.335	0.66956	M	1.43	0.32958	T	-2.0	0.46146	N	0.344	0.38541	-0.9557	0.39970	T	0.064	0.26349	T	9	0.6299233	0.68457	D	0.005267	0.13464	T	0.178	0.44724	0.86	0.95774	0.236890367714	0.23314	0.06965755541058022	0.06903	.	.	0.472915053368	0.35082	T	0.116256	0.43547	T	-0.177781	0.24067	T	-0.493146	0.23062	T	0.432711362838745	0.30161	T	0.430757	0.11694	T	0.43091443	0.62812	0.45238554	0.68145	0.43091443	0.62813	0.45238554	0.68145	-8.85	0.66726	D	.	.	0.360	0.57192	A	.	.	1.287483	0.16881	12.82	0.92177452505373425	0.21543	0.02451	0.06895	N	AEFBI	0.042317	0.06551	N	-0.835049695085866	0.12421	0.6053458	-1.07781891403222	0.08138	0.3988198	6.62937416488239E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-3.63	0.04238	0.215000	0.17352	.	.	-0.831000	0.02872	0.010000	0.18352	0.998000	0.33993	0.017000	0.10941	0.0:0.108:0.192:0.7	12.104	0.53106	572	0.70300	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	370.43	34	chr1	152315447	.	G	T	370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=380;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=0.749;SOR=0.906	GT:AD:DP:GQ:PL	0/1:41,18:59:99:382,0,1050	9	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	0/1:84,38:133:85:85,0,1013	4	0	5	1
chr1	155057854	155057854	C	T	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon14:c.C1450T:p.R484C,ADAM15:NM_001261465:exon14:c.C1420T:p.R474C,ADAM15:NM_001261466:exon14:c.C1372T:p.R458C,ADAM15:NM_003815:exon14:c.C1420T:p.R474C,ADAM15:NM_207191:exon14:c.C1420T:p.R474C,ADAM15:NM_207194:exon14:c.C1420T:p.R474C,ADAM15:NM_207195:exon14:c.C1420T:p.R474C,ADAM15:NM_207196:exon14:c.C1420T:p.R474C,ADAM15:NM_207197:exon14:c.C1420T:p.R474C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0355892413859	0.0004	0.000998403	0.0002	0.0020	0	0	0.0002	0	0	0	0.0001746	27	154602	rs115145963	4.313e-05	4.446e-05	5.584e-05	3.028e-05	0.0013	3.445e-05	3.131e-05	0.0010	0.0009	0.0013	0	0	0	7.549e-05	0	2.699e-06	0.0002	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0.0001	0	0	9.409e-05	0	1.47e-05	0.0005	0.0004	0.021	0.65419	D	0.001	0.83351	D	0.998	0.77913	D	0.927	0.66185	D	0.089206	0.20439	N	0.355912	0.996064	0.45795	D	2.87	0.83286	M	2.72	0.11947	T	-5.3	0.86073	D	0.569	0.63374	-1.0247	0.22181	T	0.085	0.33014	T	10	0.053387582	0.05521	T	0.035589	0.56442	D	0.249	0.55752	.	.	0.556302983289	0.55290	0.755635086645834	0.75510	0.951829843149	0.72665	0.385947704315	0.23097	T	0.454988	0.79432	T	-0.319813	0.06912	T	-0.245396	0.50269	T	0.289511951560651	0.24569	T	0.927507	0.76632	D	0.15251178	0.34617	0.15819319	0.36955	0.15251178	0.34617	0.15819319	0.36954	-10.656	0.79079	D	.	.	0.269	0.57085	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.904174	0.80630	27.4	0.99942504269889354	0.99824	0.94308	0.60753	D	AEFDGBCI	0.790271	0.71921	D	0.736419705886516	0.82018	7.660211	0.658865134040338	0.79274	7.047537	0.999999967548277	0.74766	0.743674	0.98306	0	0.633656	0.55848	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	1.904000	0.39498	4.905000	0.45897	0.587000	0.30956	0.962000	0.33725	1.000000	0.68203	0.183000	0.21389	0.1857:0.8142:0.0:0.0	10.996	0.46792	213	0.91726	Disintegrin domain|Disintegrin domain|Disintegrin 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	.	.	.	.	.	.	.	.	0.05	1815.43	34	chr1	155057854	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.059;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.308;SOR=0.646	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1827,0,2131	9	0	1	0
chr1	155612535	155612535	G	A	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon9:c.G931A:p.E311K,MSTO1:NM_001256533:exon9:c.G931A:p.E311K,MSTO1:NM_001350772:exon9:c.G931A:p.E311K,MSTO1:NM_001350773:exon9:c.G931A:p.E311K,MSTO1:NM_001350774:exon9:c.G931A:p.E311K,MSTO1:NM_001350775:exon9:c.G931A:p.E311K,MSTO1:NM_001350776:exon9:c.G766A:p.E256K,MSTO1:NM_001350777:exon9:c.G400A:p.E134K,MSTO1:NM_001350778:exon9:c.G400A:p.E134K,MSTO1:NM_001350779:exon9:c.G400A:p.E134K,MSTO1:NM_001350780:exon9:c.G397A:p.E133K,MSTO1:NM_001350781:exon9:c.G397A:p.E133K,MSTO1:NM_001350782:exon9:c.G397A:p.E133K,MSTO1:NM_001350783:exon9:c.G397A:p.E133K,MSTO1:NM_001350784:exon9:c.G388A:p.E130K,MSTO1:NM_001350785:exon9:c.G388A:p.E130K,MSTO1:NM_001350786:exon9:c.G397A:p.E133K,MSTO1:NM_001350787:exon9:c.G388A:p.E130K,MSTO1:NM_001350788:exon9:c.G397A:p.E133K,MSTO1:NM_001350789:exon9:c.G388A:p.E130K,MSTO1:NM_018116:exon9:c.G931A:p.E311K	.	.	.	.	.	.	.	.	.	.	.	1371622	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00315239018614	0.0002	0.000798722	9.12e-05	0.0010	0	0	0	0	0	6.177e-05	9.7e-05	15	154602	rs149058840	3.765e-05	3.762e-05	4.359e-05	3.164e-05	0.0011	2.961e-05	2.657e-05	0.0008	0.0007	0.0011	2.239e-05	0	0	3.747e-05	0	5.396e-06	0.0001	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0002	0	0	0.0003	0	1.471e-05	0.0005	0	0.47	0.08483	T	0.835	0.03663	T	0.001	0.07471	B	0.001	0.04355	B	0.193480	0.16784	N	0.605804	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.41	0.14000	N	0.156	0.23758	-0.9457	0.41698	T	0.018	0.07329	T	10	0.008788198	0.00199	T	0.003152	0.06876	T	0.023	0.04649	.	.	0.0716867268079	0.06686	0.5001452844135879	0.49935	0.548597812381	0.51797	0.349145442247	0.17797	T	0.00127	0.00758	T	-0.530671	0.00380	T	-0.594241	0.13300	T	0.00365277862045141	0.00039	T	0.762724	0.40920	T	0.020860644	0.00661	0.040193457	0.04289	0.020860644	0.00661	0.040193457	0.04289	-0.303	0.00659	T	.	.	0.082	0.10449	B	.;.;.	.;.;.	2.133290	0.27159	17.37	0.66476607270756138	0.08070	0.34847	0.25164	N	AEFBI	0.210421	0.33631	N	-1.36959779841228	0.02927	0.1299859	-1.37330132618091	0.03539	0.1652785	6.64698718344127E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.44	-0.672	0.10805	0.791000	0.26577	2.973000	0.35807	-0.451000	0.05143	0.405000	0.26210	0.999000	0.35428	0.074000	0.16894	0.0912:0.5176:0.3912:0.0	9.255	0.36735	79	0.96716	.;DML1/Misato, tubulin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1456.43	36	chr1	155612535	.	G	A	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=446;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=1.52;QD=12.24;ReadPosRankSum=-0.264;SOR=0.782	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1468,0,1255	9	0	1	0
chr1	155688975	155688975	A	T	exonic	YY1AP1	.	startloss	YY1AP1:NM_001198906:exon1:c.T2A:p.M1?,YY1AP1:NM_139118:exon1:c.T2A:p.M1?	Grange syndrome, Autosomal recessive	425	1095	2	0	0	2	0.000912409	.	.	.	3235107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0018	0.00339457	0.0012	0.0078	0.0012	0	0	0.0007	0.0051	7.424e-05	0.0008603	133	154602	rs147058489	0.0005	0.0005	0.0004	0.0005	0.0055	0.0004	0.0004	0.0048	0.0046	0.0055	0.0010	0.0044	0	0	0.0023	0.0002	0.0014	1.171e-05	0.0016	0.0016	0.0017	0.0015	0.0047	0.0014	0.0014	0.0042	0.0040	0.0047	0	0.0009	0.0043	0	0	0	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.81001	N	.	.	.	1.9	0.23486	T	0.55	0.02721	N	0.14	0.13911	-0.9680	0.37612	T	0.012	0.04700	T	8	0.005469829	0.00121	T	.	.	.	0.108	0.30607	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	8.6E-4	0.00434	T	-0.438373	0.01322	T	-0.39944	0.33450	T	0.0226630873927602	0.00984	T	0.9	0.65058	D	0.6814045	0.77045	0.5347397	0.73115	0.6814045	0.77046	0.5347397	0.73116	-6.437	0.49798	T	.	.	.	.	.	.	.	0.131048	0.05267	1.766	0.79099128018095721	0.12590	0.01014	0.03823	N	ALL	0.009606	0.00058	N	-1.48445676468462	0.01959	0.08603364	-1.64295274284065	0.01413	0.0638672	0.999999999999999	0.74766	0.006267	0.00052	3	0.218748	0.04544	0	0.47417	0.07244	0	0.249971	0.05119	0	.	.	2.1	-4.2	0.03562	-0.679000	0.05304	-2.175000	0.04103	-2.162000	0.00369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2108:0.166:0.2818:0.3414	0.303	0.00257	68	0.97118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	725.43	35	chr1	155688975	.	A	T	725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.527;SOR=0.746	GT:AD:DP:GQ:PL	0/1:30,31:61:99:737,0,678	9	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.1	1764.14	35	chr1	156244810	.	G	A	1764.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.24;DP=437;ExcessHet=0.2348;FS=8.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.079;SOR=1.167	GT:AD:DP:GQ:PL	0/1:30,27:57:99:665,0,727	8	0	2	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.1	1221.14	35	chr1	156244850	.	C	A	1221.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.303;DP=410;ExcessHet=0.2348;FS=2.507;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.28;SOR=1.02	GT:AD:DP:GQ:PL	0/1:25,18:43:99:384,0,666	8	0	2	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.1	3420.14	35	chr1	156266009	.	G	A	3420.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=549;ExcessHet=0.2348;FS=8.743;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.787;SOR=1.107	GT:AD:DP:GQ:PL	0/1:63,36:99:99:850,0,1736	8	0	2	0
chr1	156556535	156556535	C	G	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon12:c.G1288C:p.G430R	.	.	.	.	.	.	.	.	0.0046	0.046	.	3213075	IQGAP3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.0125381385936	0.0018	0.000798722	0.0006	0.0066	0.0003	0.0001	0	0	0	0	0.0004851	75	154602	rs146377246	0.0001	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0003	0	0.0001	0	0.0003	2.698e-06	0.0005	4.638e-05	0.0018	0.0018	0.0019	0.0017	0.0061	0.0016	0.0015	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	0	0.0009	0.0004	0.149	0.24758	T	0.032	0.53426	D	0.041	0.21357	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	0.999043	0.45943	D	0.205	0.09354	N	3.26	0.06681	T	-1.25	0.31576	N	0.144	0.14480	-0.9831	0.34281	T	0.008	0.02968	T	10	0.0037704408	0.00070	T	0.012538	0.31203	T	0.114	0.32008	0.263	0.20788	0.450441870249	0.44665	0.21246526222129045	0.21162	0.261551509834	0.28701	0.346369355917	0.17386	T	0.181014	0.53254	T	-0.605316	0.00135	T	-0.640629	0.09623	T	0.0298280792966551	0.01964	T	0.639136	0.25234	T	0.05960371	0.12133	0.07860749	0.17622	0.05960371	0.12132	0.07860749	0.17622	-2.923	0.09375	T	.	.	0.197	0.41858	B	.	.	2.486477	0.32075	18.93	0.99270229255369458	0.57525	0.64219	0.32337	D	AEFDBI	0.274300	0.38952	N	-0.285632596110898	0.29703	1.649531	-0.164503629453805	0.32854	1.87333	0.997311527316791	0.35488	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.54	3.5	0.39181	0.043000	0.13855	0.557000	0.19475	-0.251000	0.07141	0.006000	0.17386	0.148000	0.23153	0.357000	0.25818	0.1591:0.6001:0.154:0.0868	4.266	0.10210	665	0.61472	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	839.43	38	chr1	156556535	.	C	G	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.734;DP=425;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.224;SOR=0.404	GT:AD:DP:GQ:PL	0/1:52,42:94:99:851,0,1288	9	0	1	0
chr1	156813855	156813855	G	A	exonic	SH2D2A	.	nonsynonymous SNV	SH2D2A:NM_001161443:exon4:c.C476T:p.A159V,SH2D2A:NM_001161441:exon5:c.C590T:p.A197V,SH2D2A:NM_001161442:exon5:c.C506T:p.A169V,SH2D2A:NM_001161444:exon5:c.C560T:p.A187V,SH2D2A:NM_003975:exon5:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0026	0.000399361	0.0079	0.0020	0.0051	0	0	0.0110	0	0.0124	0.0013066	202	154602	rs199586383	0.0025	0.0024	0.0025	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0006	0.0012	0	2.786e-05	5.705e-05	0	0.0028	0.0022	0.0021	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0024	0.0004	0.0044	0.0010	0.0003	0	0	0	0.0028	0.0024	0.0017	0.289	0.16848	T	0.651	0.06713	T	0.003	0.21357	B	0.005	0.15521	B	0.284711	0.14880	N	0.624103	0.756475	0.33988	D	1.895	0.50365	L	-4.04	0.96465	D	-1.37	0.35991	N	0.093	0.12341	-0.4721	0.69651	T	0.504	0.81320	D	10	0.007780671	0.00177	T	.	.	.	0.168	0.42943	.	.	0.899822391244	0.89883	0.1759909973790141	0.17518	0.305991248268	0.32896	0.379221498966	0.22146	T	0.357927	0.72456	T	-0.348605	0.04816	T	-0.277514	0.47059	T	0.003489781747641	0.00037	T	0.685131	0.29365	T	0.04844297	0.08443	0.07700268	0.17110	0.04844297	0.08442	0.07700268	0.17109	-9.691	0.72492	D	.	.	0.110	0.28607	B	.;.;.	.;.;.	2.586173	0.33543	19.37	0.9866349418081114	0.44372	0.59911	0.31046	D	AEFDGBHCI	0.112140	0.22177	N	-0.648590566709788	0.17501	0.9011313	-0.555242081298587	0.20667	1.114501	0.999999999999905	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.87	2.83	0.32150	0.688000	0.25103	3.565000	0.39102	0.676000	0.76740	0.196000	0.24261	1.000000	0.68203	0.417000	0.27162	0.1139:0.0:0.6689:0.2172	4.674	0.12089	706	0.57215	.;SH2D2A, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002651	0.000000	0.004167	0.002959	0.000000	0.000000	0.000000	0.003846	0.05	539.43	36	chr1	156813855	.	G	A	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.686;DP=354;ExcessHet=0;FS=2.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.114;SOR=0.304	GT:AD:DP:GQ:PL	0/1:21,24:45:99:551,0,533	9	0	1	0
chr1	156940227	156940227	G	A	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_001377419:exon35:c.C3683T:p.A1228V,ARHGEF11:NM_014784:exon35:c.C3593T:p.A1198V,ARHGEF11:NM_001377418:exon36:c.C3704T:p.A1235V,ARHGEF11:NM_198236:exon36:c.C3713T:p.A1238V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0600349748213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910764584	6.938e-07	2.736e-06	1.374e-06	0	3.018e-05	0	0	.	.	3.018e-05	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.996	0.84481	D	0.000200	0.48115	D	0.000000	0.98725	0.40560	D	1.1	0.28011	L	-1.01	0.76168	T	-2.65	0.56787	D	0.461	0.55019	-0.0713	0.80751	T	0.427	0.76995	T	10	0.6293131	0.68424	D	0.060035	0.67865	D	0.443	0.74588	0.395	0.42099	0.801561714105	0.79970	0.6666119313950198	0.66599	0.258236123232	0.28380	0.537907242775	0.44150	T	0.124093	0.44889	T	0.182799	0.72301	D	0.0248023	0.71942	D	0.978821158409119	0.72519	D	0.913509	0.69206	D	0.43022442	0.62767	0.4602937	0.68652	0.43022442	0.62767	0.4602937	0.68653	-6.638	0.51365	T	.	.	0.661	0.72234	P	.;.	.;.	4.818992	0.78469	26.9	0.99927078806231329	0.99163	0.98541	0.83887	D	AEFDGBI	0.645383	0.62130	D	0.525984061660263	0.68632	5.243886	0.492872878537632	0.67515	5.094588	0.999709898602751	0.41986	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	6.512000	0.73648	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.0:1.0:0.0	15.396	0.74510	479	0.77495	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	626.43	35	chr1	156940227	.	G	A	626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=345;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.013;SOR=1.489	GT:AD:DP:GQ:PL	0/1:22,20:42:99:638,0,619	9	0	1	0
chr1	157696237	157696237	G	T	exonic	FCRL3	.	nonsynonymous SNV	FCRL3:NM_001320333:exon7:c.C935A:p.A312D,FCRL3:NM_052939:exon7:c.C935A:p.A312D	.	425	1093	4	0	0	4	0.00182648	.	.	.	3185040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.00493325533998	0.0062	0.00279553	0.0048	0.0015	0.0027	0	0.0045	0.0074	0.0044	0.0004	0.0049547	766	154602	rs115903952	0.0075	0.0075	0.0077	0.0073	0.0086	0.0074	0.0074	0.0085	0.0084	0.0011	0.0050	0.0172	0	0.0035	0.0050	0.0086	0.0071	0.0009	0.0054	0.0054	0.0057	0.0052	0.0076	0.0051	0.0050	0.0070	0.0068	0.0017	0.0044	0.0076	0.0153	0	0.0050	0.0034	0.0076	0.0062	0.0008	0.124	0.27426	T	0.339	0.18071	T	0.566	0.39915	P	0.142	0.37929	B	0.019201	0.27313	N	0.174549	1	0.08975	N	2.75	0.80375	M	2.32	0.16640	T	-2.67	0.57110	D	0.462	0.50508	-1.0508	0.14175	T	0.047	0.20156	T	10	0.005212784	0.00113	T	0.004933	0.12411	T	0.177	0.44549	.	.	0.409800938858	0.40592	0.22419077476748778	0.22334	0.0226205030519	0.02283	0.399206340313	0.24957	T	0.012942	0.11287	T	-0.474931	0.00792	T	-0.445587	0.28184	T	0.0324991904981843	0.02389	T	0.560744	0.19617	T	0.3363554	0.55988	0.37444058	0.62609	0.3363554	0.55988	0.37444058	0.62609	-9.316	0.69959	D	.	.	0.147	0.35767	B	.;.	.;.	2.676138	0.34902	19.75	0.99433577622096525	0.64374	0.08416	0.14348	N	AEFBI	0.115972	0.22780	N	-0.279748884527827	0.29931	1.664283	-0.392544628364154	0.25217	1.385516	0.015718760464501	0.12746	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	4.28	0.50183	1.177000	0.31578	1.258000	0.25213	0.676000	0.76740	0.003000	0.16062	0.001000	0.17328	0.562000	0.30459	0.0:0.1785:0.8215:0.0	11.724	0.50964	814	0.42100	.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs115903952	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.004076	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	1181.43	34	chr1	157696237	.	G	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=427;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.945;SOR=0.822	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1193,0,1603	9	0	1	0
chr1	158606922	158606922	G	T	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G484T:p.V162F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0006	0.00139776	0.0002	0.0028	0	0	0	0	0	0	0.0002393	37	154602	rs28565358	5.815e-05	5.814e-05	6.67e-05	4.951e-05	0.0019	4.81e-05	4.431e-05	0.0016	0.0014	0.0019	2.238e-05	0	0	0	0.0005	8.993e-07	0.0002	1.159e-05	0.0005	0.0005	0.0004	0.0006	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.037	0.43085	D	0.309	0.19782	T	0.008	0.14655	B	0.03	0.21741	B	0.002119	0.37227	N	0.000000	0.949365	0.26539	N	-1.065	0.01049	N	8.67	0.00132	T	-1.0	0.26422	N	0.161	0.16864	-1.0310	0.20131	T	0.000	0.00011	T	10	0.00790894	0.00179	T	.	.	.	0.278	0.59497	.	.	0.0611884634855	0.05136	0.15951465696642345	0.15872	0.0126296370296	0.01203	0.268116354942	0.05897	T	0.004733	0.04144	T	-0.407185	0.02075	T	-0.364145	0.37572	T	0.017984722155551	0.00523	T	0.173983	0.01665	T	0.13199739	0.30749	0.09990703	0.23871	0.13199739	0.30749	0.09990703	0.23870	-3.429	0.15449	T	.	.	0.101	0.21390	B	.;.	.;.	1.670072	0.21294	15.14	0.93698019407559896	0.23608	0.13182	0.17710	N	AEFI	0.184670	0.31200	N	-0.914371658187264	0.10506	0.5023356	-0.782667235362204	0.14919	0.78211	0.0200022593305227	0.13217	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	5.36	3.5	0.39181	-0.499000	0.06494	2.796000	0.34824	0.672000	0.70159	0.000000	0.06391	0.997000	0.33255	0.323000	0.25040	0.2495:0.1584:0.5921:0.0	4.746	0.12411	544	0.72685	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3082.43	35	chr1	158606922	.	G	T	3082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.404;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.031;SOR=0.702	GT:AD:DP:GQ:PL	0/1:121,128:249:99:3094,0,2861	9	0	1	0
chr1	158635967	158635967	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon38:c.G5378A:p.R1793Q	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	276701	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.0902625210776	0.0015	0.000399361	0.0013	0.0003	0.0003	0.0001	0.0006	0.0021	0.0033	0.0006	0.0012678	196	154602	rs200938874	0.0018	0.0018	0.0018	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0004	0.0003	0.0155	5.038e-05	0.0006	0.0016	0.0018	0.0022	0.0006	0.0013	0.0013	0.0012	0.0014	0.0016	0.0012	0.0011	0.0013	0.0012	0.0003	0	0.0005	0.0141	0.0004	0.0008	0	0.0016	0.0043	0.0006	0.023	0.48186	D	0.004	0.74150	D	1.0	0.90584	D	0.994	0.82059	D	0.012655	0.29101	N	0.000000	0.999969	0.52935	D	2.43	0.70455	M	0.56	0.54540	T	-3.44	0.67477	D	0.739	0.73916	-0.5707	0.65986	T	0.310	0.68085	T	10	0.009819269	0.00220	T	0.090263	0.75484	D	0.367	0.68670	.	.	0.711956708817	0.70943	0.2637236965323406	0.26285	0.234002417915	0.25937	0.359785854816	0.19354	T	0.456702	0.79536	T	-0.208883	0.19537	T	-0.0974499	0.63595	T	0.0325640788605959	0.02399	T	0.968103	0.88413	D	0.8250712	0.85564	0.69526035	0.82059	0.8015135	0.84004	0.7078286	0.82772	-6.059	0.46770	T	0.6496440464384736	0.72159	0.127	0.27131	B	.;.	.;.	3.820922	0.55171	23.6	0.99941914639889184	0.99824	0.98337	0.81764	D	AEFBI	0.923805	0.90086	D	0.753758718908584	0.83151	7.942375	0.695342416779889	0.82023	7.665841	0.999999993920296	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	7.537000	0.80946	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.906000	0.44173	0.0:1.0:0.0:0.0	18.470	0.90715	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05	1434.43	33	chr1	158635967	.	C	T	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=460;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.47;SOR=0.634	GT:AD:DP:GQ:PL	0/1:86,65:151:99:1446,0,1890	9	0	1	0
chr1	160750053	160750053	A	C	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon2:c.A288C:p.R96S,SLAMF7:NM_001282591:exon2:c.A288C:p.R96S,SLAMF7:NM_001282593:exon2:c.A288C:p.R96S,SLAMF7:NM_001282594:exon2:c.A288C:p.R96S,SLAMF7:NM_001282595:exon2:c.A207C:p.R69S,SLAMF7:NM_001282596:exon2:c.A288C:p.R96S,SLAMF7:NM_001282592:exon3:c.A609C:p.R203S,SLAMF7:NM_021181:exon3:c.A609C:p.R203S	.	423	1030	67	2	0	71	0.0333177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0036	0.023762	0.0155	0.0039	0.0080	0.0487	0.0168	0.0050	0.0165	0.0527	0.0139325	2154	154602	rs117009784	0.0082	0.0082	0.0068	0.0096	0.0536	0.0081	0.0080	0.0517	0.0511	0.0036	0.0084	0.0132	0.0536	0.0172	0.0290	0.0025	0.0097	0.0529	0.0085	0.0085	0.0070	0.0101	0.0531	0.0081	0.0080	0.0478	0.0457	0.0043	0.0033	0.0095	0.0144	0.0440	0.0163	0.0204	0.0035	0.0076	0.0531	0.823	0.04742	T	0.817	0.03863	T	0.0	0.02946	B	0.0	0.01387	B	0.167060	0.17487	N	0.602456	1	0.19486	N	-2.74	0.00028	N	2.19	0.18724	T	1.94	0.00756	N	0.21	0.23380	-0.9467	0.41532	T	0.003	0.00929	T	10	0.0028574467	0.00046	T	.	.	.	0.031	0.07369	0.566	0.68768	.	.	0.324813258575712	0.32394	0.178383138958	0.20072	0.290989935398	0.09067	T	0.002644	0.43587	T	-0.722179	0.00027	T	-0.768401	0.02821	T	0.00331738300803551	0.00035	T	0.0486951	0.00347	T	0.07594362	0.17144	0.04246686	0.05065	0.07594362	0.17144	0.04246686	0.05065	-0.005	0.00951	T	.	.	0.061	0.11845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.793615	0.11639	8.226	0.29561523863360645	0.01574	0.00351	0.01809	N	AEFDGBHCI	0.043334	0.06838	N	-1.47543214926929	0.02024	0.08897147	-1.36352818858422	0.03648	0.1706476	0.999999749278389	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	1.17	0.19998	-0.015000	0.12572	0.912000	0.22635	-0.175000	0.10903	0.169000	0.23921	0.753000	0.26565	0.220000	0.22462	0.314:0.4287:0.0:0.2573	3.261	0.06445	799	0.44747	Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;.	.	.	.	.	rs117009784	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	0.020645	0.000000	0.014946	0.026316	0.050000	0.017241	0.024390	0.037879	0.05	853.43	35	chr1	160750053	.	A	C	853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.144;DP=375;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.684;SOR=0.484	GT:AD:DP:GQ:PL	0/1:27,33:60:99:865,0,750	9	0	1	0
chr1	160816759	160816759	A	G	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon5:c.A1238G:p.N413S,LY9:NM_002348:exon5:c.A1238G:p.N413S	.	428	1064	30	0	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0015	0.0111821	0.0063	0.0010	0.0057	0.0040	0	0.0013	0.0066	0.0340	0.0057697	892	154602	rs141800928	0.0030	0.0030	0.0021	0.0040	0.0351	0.0030	0.0029	0.0341	0.0337	0.0006	0.0061	0.0060	0.0020	0.0001	0.0108	0.0005	0.0039	0.0351	0.0026	0.0026	0.0019	0.0034	0.0390	0.0024	0.0023	0.0344	0.0327	0.0005	0	0.0046	0.0078	0.0035	0.0004	0.0102	0.0009	0.0024	0.0390	0.819	0.02966	T	0.308	0.19845	T	0.319	0.34076	B	0.121	0.36391	B	.	.	.	.	1	0.08975	N	0.185	0.09099	N	4.06	0.03063	T	-1.11	0.28703	N	0.078	0.05287	-0.9354	0.43333	T	0.001	0.00467	T	9	0.0031006932	0.00051	T	.	.	.	0.016	0.02506	.	.	0.207176502487	0.20327	0.11403453494514294	0.11331	0.168082627083	0.18954	0.24695122242	0.03454	T	0.054844	0.29839	T	-0.750318	0.00018	T	-0.824097	0.01371	T	0.00163960961764602	0.00017	T	0.69603	0.30552	T	0.021601463	0.00771	0.02695488	0.00816	0.021601463	0.00771	0.02695488	0.00816	-4.237	0.27584	T	.	.	0.098	0.16451	B	.;.	.;.	-0.427439	0.02111	0.200	0.29551277888573702	0.01573	0.00914	0.03565	N	AEFBI	0.042420	0.06579	N	-1.50498780926529	0.01817	0.07963921	-1.57513754956223	0.01808	0.08234504	0.904061424140657	0.26169	0.693126	0.56070	0	0.659464	0.62310	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	4.75	-5.74	0.02197	-1.090000	0.03483	-6.649000	0.01342	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.351:0.2562:0.267:0.1258	1.303	0.01957	789	0.46346	.;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	42	chr1	160816759	.	A	G	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.082;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.957;SOR=0.7	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1430,0,1845	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:125,32:167:96:96,0,2589	0	0	9	1
chr1	161711334	161711334	G	C	exonic	FCRLA	.	nonsynonymous SNV	FCRLA:NM_001366196:exon3:c.G359C:p.G120A,FCRLA:NM_032738:exon3:c.G359C:p.G120A,FCRLA:NM_001184866:exon4:c.G377C:p.G126A,FCRLA:NM_001366195:exon4:c.G374C:p.G125A	.	170	1343	9	0	0	9	0.00333952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0059194228648	7.7e-05	0.000998403	0.0012	0	0.0003	0	0	0.0005	0	0.0067	0.0010479	162	154602	rs112766190	0.0008	0.0008	0.0006	0.0010	0.0068	0.0007	0.0007	0.0064	0.0062	0	0.0001	0.0058	0	0	0.0023	0.0003	0.0009	0.0068	0.0005	0.0005	0.0004	0.0007	0.0066	0.0004	0.0004	0.0048	0.0042	0	0	6.536e-05	0.0078	0	0	0	0.0002	0.0014	0.0066	0.412	0.11623	T	0.178	0.48336	T	0.013	0.16609	B	0.012	0.16012	B	0.000240	0.47286	D	0.000000	0.848719	0.58761	D	1.555	0.39373	L	2.73	0.11839	T	-1.79	0.42191	N	0.15	0.21188	-0.9672	0.37774	T	0.010	0.03856	T	10	0.0053498447	0.00117	T	0.005919	0.15430	T	0.041	0.10877	.	.	0.29132392195	0.28731	0.36251428848108325	0.36165	0.102056697399	0.11557	0.446816027164	0.31510	T	.	.	.	-0.5993	0.00147	T	-0.631434	0.10306	T	0.0336092901141238	0.02573	T	0.735226	0.36203	T	.	.	.	.	.	.	.	.	-5.862	0.45247	T	.	.	0.132	0.37426	B	.;.;.;.	.;.;.;.	2.589881	0.33598	19.39	0.9062556406636435	0.19878	0.35857	0.25399	N	AEFBI	0.140282	0.26214	N	-0.481238275204291	0.22696	1.213716	-0.403886986017946	0.24883	1.365132	0.999908617294365	0.45458	0.542737	0.22433	0	0.685571	0.66316	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.99	3.05	0.34272	0.624000	0.24156	4.965000	0.46365	0.676000	0.76740	0.102000	0.22834	1.000000	0.68203	0.782000	0.36987	0.0:0.3534:0.6466:0.0	11.394	0.49071	787	0.46738	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1917.43	36	chr1	161711334	.	G	C	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.524;SOR=0.738	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1929,0,1869	9	0	1	0
chr1	167054353	167054353	G	A	exonic	GPA33	.	nonsynonymous SNV	GPA33:NM_005814:exon7:c.C941T:p.P314L	.	.	.	.	.	.	.	.	.	.	.	3439879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0812637006091	0.0008	0.000798722	0.0003	0.0025	0.0008	0	0.0002	4.496e-05	0	0.0002	0.000304	47	154602	rs148351388	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0018	0.0017	0.0022	0.0006	0	5.038e-05	0.0003	0	2.518e-05	0.0002	0.0002	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0026	0.0025	0.0031	0	0.0010	0	0	0.0005	0	2.942e-05	0.0005	0	0.012	0.54683	D	0.029	0.54541	D	0.027	0.19556	B	0.005	0.11217	B	0.091545	0.20320	N	0.425296	0.999994	0.08975	N	2.705	0.79137	M	-1.03	0.76430	T	-4.25	0.76094	D	0.054	0.02559	-0.8371	0.52839	T	0.181	0.52889	T	10	0.0049874783	0.00107	T	0.081264	0.73643	D	0.090	0.26093	.	.	0.776501030229	0.77444	0.2641312502972822	0.26326	0.161386854959	0.18220	0.299558520317	0.10335	T	0.081287	0.36561	T	-0.417669	0.01771	T	-0.377033	0.36068	T	0.0266550323221775	0.01496	T	0.562144	0.19728	T	0.055769883	0.10883	0.0669134	0.13771	0.055769883	0.10883	0.0669134	0.13771	-4.26	0.27612	T	.	.	0.097	0.15743	B	.	.	1.103958	0.14884	11.41	0.94648739993566933	0.25252	0.03058	0.07960	N	AEFDBI	0.040880	0.06142	N	-0.81619310659703	0.12896	0.6316646	-0.941579466761316	0.11118	0.5645107	0.988216884872804	0.31445	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.87	0.902	0.18422	0.136000	0.15794	2.158000	0.30961	0.604000	0.46097	0.000000	0.06391	0.991000	0.31484	0.035000	0.13729	0.1344:0.0:0.6294:0.2363	3.756	0.08109	835	0.38313	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	622.43	37	chr1	167054353	.	G	A	622.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.952;DP=390;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.254;SOR=0.584	GT:AD:DP:GQ:PL	0/1:50,29:79:99:634,0,1150	9	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	13668.7	91	chr1	175160810	.	C	*	13668.7	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,43:72:99:1|0:175160788_C_CCTT:1517,0,969:175160788	6	0	4	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	275.73	33	chr1	179903964	.	A	C	275.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.052;DP=433;ExcessHet=0.2348;FS=128.957;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=2.84;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:179903957_A_C:234,0,793:179903957	6	0	2	2
chr1	200409603	200409603	-	GCCGCCGCC	exonic	ZNF281	.	nonframeshift insertion	ZNF281:NM_001281293:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG,ZNF281:NM_001281294:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG,ZNF281:NM_012482:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG	.	317	1201	2	0	2	4	0.000831947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0.0035	0	0	0.0002	0	0.0022	0.0001552	24	154602	rs778441303	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0002	0.0030	0.0029	0.0016	5.597e-05	0	2.8e-05	2.082e-05	0.0007	4.078e-05	0.0004	0.0033	0.0004	0.0005	0.0004	0.0005	0.0023	0.0004	0.0003	0.0013	0.0010	0.0013	0	6.575e-05	0	0	0	0	4.433e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	764.39	34	chr1	200409603	.	T	TGCCGCCGCC	764.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.072;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.66;ReadPosRankSum=-0.567;SOR=0.733	GT:AD:DP:GQ:PL	0/1:16,21:37:99:776,0,610	9	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6309.51	308	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	6309.51	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-0.207;DP=2580;ExcessHet=0;FS=0;InbreedingCoeff=0.4667;MLEAC=4;MLEAF=1;MQ=51.86;MQRankSum=-8.213;QD=27.43;ReadPosRankSum=-7.496;SOR=0.678	GT:AD:DP:GQ:PL	1/1:75,155:230:99:6314,364,0	1	1	0	8
chr1	201227199	201227199	A	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon23:c.A11104C:p.I3702L,IGFN1:NM_001367841:exon24:c.A3733C:p.I1245L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.250893070999	.	0.000199681	0.0004	0	0	0	0	0	0.0026	0.0024	0.0001682	26	154602	rs532514888	0.0001	0.0003	8.43e-05	0.0001	0.0010	9.643e-05	9.115e-05	0.0008	0.0007	3.049e-05	0	0	0	0	0.0007	6.101e-05	8.414e-05	0.0010	2.628e-05	2.625e-05	2.571e-05	2.687e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.013	0.53900	D	0.0	0.92824	D	.	.	.	.	.	.	0.076203	0.21176	N	0.477049	1	0.81001	D	0.945	0.23706	L	-0.23	0.66652	T	-0.9	0.24244	N	0.235	0.26475	-0.7757	0.56542	T	0.215	0.57652	T	10	0.030611575	0.01189	T	0.250893	0.89110	D	0.050	0.13987	0.403	0.43408	0.36256342048	0.35873	0.43746127068695123	0.43663	.	.	0.463400959969	0.33777	T	0.012583	0.11036	T	-0.404182	0.02173	T	-0.403796	0.32943	T	0.11559162359828	0.13994	T	0.558444	0.19458	T	0.09678871	0.22805	0.16909662	0.38918	0.09678871	0.22804	0.16909662	0.38917	-4.498	0.31006	T	.	.	0.255	0.49018	B	.;.	.;.	2.346154	0.30070	18.32	0.97534627905745963	0.34480	0.82466	0.41689	D	AEFDBI	0.201819	0.32845	N	-0.188309081911875	0.33621	1.90946	-0.104656735816503	0.35202	2.033821	0.00105529031044758	0.08170	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	4.05	0.46415	1.746000	0.37915	5.560000	0.48915	0.665000	0.62972	0.807000	0.29812	1.000000	0.68203	0.438000	0.27627	0.7575:0.1593:0.0832:0.0	6.383	0.20747	917	0.20147	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	307.43	31	chr1	201227199	.	A	C	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=259;ExcessHet=0;FS=5.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.388;SOR=2.712	GT:AD:DP:GQ:PL	0/1:9,9:18:99:319,0,215	9	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.05	893.43	36	chr1	201387170	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.257;DP=458;ExcessHet=0;FS=4.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.382;SOR=0.845	GT:AD:DP:GQ:PL	0/1:30,35:65:99:905,0,789	9	0	1	0
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S,PRELP:NM_201348:exon3:c.A1001G:p.N334S	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	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	0.014602	0.000000	0.005435	0.008772	0.000000	0.017241	0.015244	0.049242	0.05	1291.43	37	chr1	203486733	.	A	G	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=467;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.724;SOR=0.595	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1303,0,1678	9	0	1	0
chr1	203847483	203847483	C	T	exonic	ZC3H11A	.	nonsynonymous SNV	ZC3H11A:NM_001376336:exon12:c.C1342T:p.P448S,ZC3H11A:NM_001350264:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376342:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376349:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376350:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376360:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376364:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376365:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376366:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001350263:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001350265:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376334:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376337:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376338:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376339:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376340:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376341:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376343:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376344:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376345:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376347:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376352:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376354:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376355:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376367:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001319238:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001319239:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350261:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350262:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350266:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376335:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376346:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376348:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376351:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376353:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376357:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376358:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376359:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376361:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376363:exon15:c.C1342T:p.P448S,ZC3H11A:NM_014827:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376356:exon16:c.C1342T:p.P448S,ZC3H11A:NM_001376362:exon16:c.C1342T:p.P448S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0207710788555	.	.	8.345e-06	0	0	0	0	0	0	6.067e-05	6.5e-06	1	154602	rs775669259	1.095e-05	1.094e-05	1.361e-06	2.063e-05	0.0002	6.48e-06	5.24e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	8.994e-07	3.312e-05	0.0002	1.97e-05	1.968e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.012	0.54683	D	0.03	0.54541	D	0.966	0.56202	D	0.818	0.58969	P	0.002106	0.37227	N	0.297916	0.998507	0.22111	N	2.585	0.75554	M	0.47	0.56114	T	-2.58	0.55662	D	0.31	0.35194	-0.8411	0.52573	T	0.224	0.58869	T	10	0.10795039	0.20075	T	0.020771	0.43429	T	0.080	0.23350	0.28	0.23483	0.082315109003	0.07666	0.3646269717332717	0.36376	0.430707571193	0.43302	0.362426877022	0.19739	T	0.03784	0.35631	T	-0.217849	0.18288	T	-0.453847	0.27272	T	0.698799252510071	0.40662	D	0.867913	0.56980	D	0.054714	0.10536	0.06761944	0.14014	0.054714	0.10536	0.06761944	0.14014	-3.019	0.10387	T	.	.	0.085	0.10062	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.182591	0.27823	17.59	0.99429908403641143	0.64227	0.38716	0.26051	N	AEFBI	0.099981	0.20115	N	-0.259740333871238	0.30715	1.715343	-0.408723666707068	0.24741	1.356537	0.00238798879601208	0.09378	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.82	1.56	0.22423	0.396000	0.20592	1.422000	0.26372	-0.230000	0.07744	0.052000	0.21487	0.037000	0.21475	0.702000	0.34203	0.2707:0.4812:0.2481:0.0	9.509	0.38230	561	0.71236	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	856.43	34	chr1	203847483	.	C	T	856.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.189;DP=376;ExcessHet=0;FS=8.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=0;QD=12.06;ReadPosRankSum=0.518;SOR=0.545	GT:AD:DP:GQ:PL	0/1:36,35:71:99:868,0,1021	9	0	1	0
chr1	212797191	212797191	C	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001042552:exon4:c.C253A:p.L85I,TATDN3:NM_001042553:exon4:c.C253A:p.L85I,TATDN3:NM_001146169:exon4:c.C253A:p.L85I,TATDN3:NM_001146170:exon4:c.C253A:p.L85I,TATDN3:NM_001146171:exon4:c.C253A:p.L85I,TATDN3:NM_001363589:exon4:c.C253A:p.L85I,TATDN3:NM_001363590:exon4:c.C253A:p.L85I	.	433	1067	22	0	0	22	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00326930800444	0.0007	0.000798722	0.0018	0	0.0007	0	0	0.0017	0.0011	0.0058	0.0015459	239	154602	rs148528899	0.0010	0.0010	0.0009	0.0011	0.0069	0.0010	0.0009	0.0052	0.0046	2.99e-05	0.0011	0.0201	0	0	0.0069	0.0003	0.0022	0.0043	0.0011	0.0011	0.0012	0.0011	0.0041	0.0010	0.0009	0.0027	0.0023	7.22e-05	0	0.0006	0.0204	0	0	0.0170	0.0008	0.0033	0.0041	0.141	0.27663	T	0.347	0.38160	T	0.009	0.15093	B	0.048	0.24975	B	0.020455	0.27037	N	0.295883	0.996626	0.81001	D	1.795	0.47270	L	.	.	.	-0.81	0.23808	N	0.394	0.50958	-1.0238	0.22476	T	0.152	0.48014	T	9	0.006371498	0.00144	T	0.003269	0.07237	T	0.082	0.23913	.	.	0.0954503805726	0.09146	0.623218878501826	0.62254	0.174648314704	0.19666	0.499033182859	0.38693	T	0.008201	0.16921	T	-0.350873	0.04673	T	-0.275553	0.47257	T	0.0114096309289719	0.00170	T	0.809319	0.48487	T	0.07326356	0.16360	0.0474131	0.06822	0.07326356	0.16359	0.0474131	0.06822	-5.271	0.39933	T	.	.	0.124	0.39562	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.979270	0.25141	16.66	0.97411810932922427	0.33830	0.68581	0.33856	D	AEFBI	0.187202	0.31449	N	-0.214285823766396	0.32546	1.836683	-0.165880246943213	0.32802	1.869798	0.988914815572001	0.31667	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.66	1.81	0.24139	1.819000	0.38660	1.802000	0.28890	-0.177000	0.10537	0.987000	0.36337	0.989000	0.31174	0.995000	0.73285	0.0:0.1646:0.1562:0.6793	4.966	0.13438	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	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	0.007560	0.010101	0.006793	0.005848	0.000000	0.000000	0.000000	0.018939	0.05	1249.43	36	chr1	212797191	.	C	A	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=438;ExcessHet=0;FS=1.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.257;SOR=0.44	GT:AD:DP:GQ:PL	0/1:32,50:82:99:1261,0,805	9	0	1	0
chr1	214644948	214644948	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G5378A:p.R1793H	Stromme syndrome, Autosomal recessive	428	1090	4	0	0	4	0.0018315	.	.	.	707082	CENPF-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00779992111407	0.0023	0.000798722	0.0022	0.0008	0.0025	0	0.0012	0.0032	0	0.0004	0.0022509	348	154602	rs143725699	0.0030	0.0030	0.0031	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0006	0.0027	0.0022	0	0.0007	0.0035	0.0035	0.0031	0.0005	0.0028	0.0028	0.0026	0.0030	0.0052	0.0026	0.0025	0.0043	0.0040	0.0008	0.0011	0.0052	0.0026	0	0.0006	0.0136	0.0042	0.0047	0.0002	0.366	0.11696	T	0.225	0.25514	T	.	.	.	.	.	.	0.337826	0.14010	N	0.551000	1	0.08975	N	.	.	.	4.0	0.03239	T	-0.79	0.21860	N	0.228	0.25622	-0.9065	0.47274	T	0.008	0.02884	T	10	0.0038471818	0.00073	T	0.008	0.20694	T	0.041	0.10877	.	.	0.137902524267	0.13322	0.06763425994309313	0.06701	0.319767572131	0.34175	0.226478457451	0.01717	T	.	.	.	-0.565321	0.00236	T	-0.586294	0.13988	T	0.0114291628453614	0.00171	T	0.824917	0.48720	T	0.016886756	0.00230	0.025371796	0.00579	0.016886756	0.00230	0.025371796	0.00579	-5.438	0.41284	T	.	.	0.127	0.27009	B	.	.	2.833570	0.37365	20.5	0.990404664072011	0.51006	0.11531	0.16695	N	AEFBCI	0.047483	0.08001	N	-0.621225929766527	0.18307	0.9494232	-0.571455022099089	0.20239	1.089485	0.850748275309075	0.25039	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	2.51	0.29435	0.959000	0.28838	2.853000	0.35153	0.654000	0.53741	0.025000	0.20085	0.742000	0.26489	0.961000	0.51904	0.3165:0.1246:0.5589:0.0	6.074	0.19131	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.020202	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1217.43	35	chr1	214644948	.	G	A	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.57;DP=422;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.053;SOR=0.776	GT:AD:DP:GQ:PL	0/1:64,44:108:99:1229,0,1564	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:50,18:73:10:10,0,684	3	0	7	0
chr1	220652035	220652035	G	C	exonic	MARK1	.	nonsynonymous SNV	MARK1:NM_001286128:exon14:c.G1555C:p.A519P,MARK1:NM_001286124:exon15:c.G1621C:p.A541P,MARK1:NM_001286126:exon15:c.G1621C:p.A541P,MARK1:NM_018650:exon15:c.G1621C:p.A541P	.	427	1089	6	0	0	6	0.00274725	.	.	.	707103	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0095	0.0153754	0.0058	0.0283	0.0020	0.0017	0	5.996e-05	0.0011	0.0222	0.0053298	824	154602	rs79027592	0.0022	0.0022	0.0018	0.0027	0.0315	0.0022	0.0022	0.0299	0.0293	0.0315	0.0018	0	0.0008	0	0.0028	4.141e-05	0.0037	0.0211	0.0093	0.0093	0.0093	0.0094	0.0296	0.0089	0.0088	0.0282	0.0277	0.0296	0	0.0036	0	0.0031	0	0.0034	0.0001	0.0071	0.0207	0.167	0.23095	T	0.555	0.10750	T	0.0	0.24543	B	0.002	0.31370	B	0.000063	0.52346	D	0.131094	0.999991	0.18612	N	1.1	0.28011	L	1.33	0.35031	T	0.15	0.05917	N	0.419	0.49874	-1.0769	0.07962	T	0.012	0.04700	T	10	0.0038231015	0.00072	T	.	.	.	0.043	0.11576	.	.	0.161926535498	0.15789	0.3283291276135048	0.32745	0.263458814459	0.28900	0.448996245861	0.31806	T	0.010086	0.09570	T	-0.537015	0.00349	T	-0.520476	0.20245	T	0.0100499225868852	0.00135	T	0.831417	0.50504	T	0.06236238	0.13017	0.155249	0.36399	0.06236238	0.13016	0.155249	0.36398	-3.586	0.17654	T	.	.	0.087	0.13127	B	.;.;.;.	.;.;.;.	4.150054	0.62247	24.4	0.99418804224900037	0.63645	0.93686	0.58902	D	AEFBI	0.425424	0.49019	N	-0.472345838527117	0.22989	1.231441	-0.357897657601133	0.26265	1.449669	2.23797325724106E-4	0.06048	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.71	2.41	0.28644	2.826000	0.47805	4.905000	0.45897	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.215:0.0:0.6667:0.1183	7.910	0.28945	689	0.59000	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	619.43	36	chr1	220652035	.	G	C	619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.865;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-1.101;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,30:81:99:631,0,1308	9	0	1	0
chr1	222538766	222538766	G	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon5:c.C1459A:p.L487M	.	422	1089	11	0	0	11	0.00502513	.	.	.	718673	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	.	0.0044	0.00239617	0.0040	0.0010	0.0014	0	0.0109	0.0053	0.0110	0.0012	0.0041203	637	154602	rs116359984	0.0053	0.0053	0.0053	0.0053	0.0060	0.0052	0.0051	0.0059	0.0058	0.0010	0.0021	0.0004	0	0.0102	0.0036	0.0060	0.0038	0.0014	0.0046	0.0046	0.0044	0.0048	0.0060	0.0043	0.0042	0.0055	0.0053	0.0010	0.0022	0.0059	0.0012	0	0.0123	0.0034	0.0060	0.0085	0.0010	0.044	0.41096	D	0.086	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000570	0.43250	D	0.153343	0.992857	0.41762	D	2.335	0.66956	M	2.56	0.13673	T	-1.55	0.37566	N	0.433	0.47208	-1.1730	0.00484	T	0.048	0.20434	T	10	0.014419138	0.00303	T	.	.	.	0.230	0.53062	.	.	0.197625483188	0.19356	0.4017266481056992	0.40088	0.68760950996	0.60391	0.620371103287	0.55782	T	0.00331	0.02718	T	-0.452145	0.01097	T	-0.419223	0.31164	T	0.02550971537922	0.01340	T	0.921108	0.71398	D	0.39438424	0.60342	0.2511849	0.50724	0.39438424	0.60342	0.2511849	0.50723	-9.805	0.72736	D	.	.	0.152	0.33619	B	.	.	4.089281	0.60890	24.3	0.99645716448364385	0.76943	0.98642	0.85044	D	AEFBI	0.826831	0.74624	D	0.569552629591111	0.71279	5.627006	0.543441570618771	0.70943	5.580067	0.120778704780486	0.16876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.43	0.52967	6.394000	0.73153	4.951000	0.46281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.1591:0.0:0.8409:0.0	9.525	0.38325	904	0.23766	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.003788	0.05	487.43	33	chr1	222538766	.	G	T	487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=348;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.034;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,22:45:99:499,0,528	9	0	1	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	268.98	76	chr1	225353862	.	C	G	268.98	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.31;DP=353;ExcessHet=0.2348;FS=154.615;InbreedingCoeff=-0.2357;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=2.84;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,15:65:64:0|1:225353861_A_G:64,0,1502:225353861	5	0	2	3
chr1	225985466	225985466	A	T	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon7:c.T1192A:p.L398M	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00920767216874	0.0030	0.00199681	0.0036	0.0006	0.0046	0	0.0006	0.0044	0.0078	0.0045	0.0035705	552	154602	rs193190607	0.0042	0.0042	0.0041	0.0043	0.0118	0.0041	0.0041	0.0095	0.0087	0.0006	0.0064	0.0016	0	0.0006	0.0118	0.0044	0.0040	0.0056	0.0034	0.0034	0.0036	0.0031	0.0069	0.0031	0.0030	0.0058	0.0054	0.0008	0	0.0069	0.0014	0	0.0006	0.0034	0.0047	0.0099	0.0048	0.129	0.26852	T	0.132	0.34477	T	0.372	0.34134	B	0.285	0.40506	B	0.084424	0.02389	N	1.812070	1	0.08975	N	1.7	0.43825	L	0.95	0.43279	T	0.13	0.05503	N	0.116	0.10483	-0.9331	0.43680	T	0.065	0.26948	T	10	0.0058823824	0.00132	T	0.009208	0.24201	T	0.042	0.11227	.	.	0.206339911435	0.20273	0.1165311959512718	0.11581	0.660468085509	0.58873	0.259991586208	0.04890	T	0.016989	0.13941	T	-0.571087	0.00218	T	-0.583708	0.14215	T	0.011948019081198	0.00187	T	0.637136	0.25071	T	0.0379999	0.04980	0.058804125	0.10928	0.0379999	0.04980	0.058804125	0.10927	-6.297	0.48698	T	.	.	0.074	0.04889	B	.	.	1.425170	0.18423	13.73	0.9539316375753174	0.26834	0.11816	0.16880	N	AEFBI	0.065332	0.12738	N	-1.19452140318617	0.05082	0.2308651	-1.27389287416184	0.04786	0.2266111	0.986528051652103	0.31079	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	-5.59	0.02305	-0.025000	0.12361	-1.006000	0.06630	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.1589:0.6225:0.2186:0.0	12.135	0.53267	749	0.51929	.	.	.	.	.	.	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	0.009063	0.000000	0.013587	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	608.43	34	chr1	225985466	.	A	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.899;SOR=0.719	GT:AD:DP:GQ:PL	0/1:21,26:47:99:620,0,477	9	0	1	0
chr1	228350934	228350934	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon77:c.C18410T:p.P6137L,OBSCN:NM_052843:exon77:c.C18410T:p.P6137L,OBSCN:NM_001271223:exon88:c.C21281T:p.P7094L	.	2	1509	10	1	0	12	0.0039604	.	.	.	2221820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.638	0.194871316883	0.0004	0.000798722	0.0007	0.0003	0.0006	0	0	0.0009	0	0.0010	0.0005951	92	154602	rs140996408	0.0005	0.0005	0.0005	0.0005	0.0025	0.0005	0.0005	0.0015	0.0012	0.0002	0.0011	0.0011	7.581e-05	0	0.0025	0.0005	0.0008	0.0006	0.0006	0.0006	0.0007	0.0005	0.0015	0.0005	0.0005	0.0010	0.0009	0.0001	0	0.0015	0.0012	0.0002	0	0.0068	0.0008	0.0005	0.0002	0.005	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	-0.57	0.71307	T	-7.31	0.95696	D	0.625	0.63968	0.264	0.86968	D	0.543	0.83180	D	10	0.4126108	0.56327	T	0.194871	0.86388	D	0.638	0.86181	.	.	0.862300235811	0.86097	0.5281541363243727	0.52739	0.478773972971	0.46940	0.569505691528	0.48608	T	0.291814	0.66455	T	-0.0755403	0.40437	T	0.0307691	0.72328	D	0.396077662706375	0.28794	T	0.940506	0.81786	D	0.61851376	0.73684	0.50629634	0.71466	0.5848341	0.71873	0.56942046	0.75070	-10.539	0.77071	D	.	.	0.672	0.71835	P	.;.;.;.;.	.;.;.;.;.	3.647353	0.51748	23.1	0.99437252398773512	0.64571	0.98107	0.79657	D	AEFBI	0.796856	0.72387	D	0.729831015424082	0.81589	7.557528	0.616545445392647	0.76142	6.436615	0.999999710429691	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	7.249000	0.77709	7.594000	0.61341	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:1.0:0.0:0.0	19.553	0.95323	433	0.80627	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	534.43	34	chr1	228350934	.	C	T	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.894;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-1.228;SOR=0.706	GT:AD:DP:GQ:PL	0/1:47,24:71:99:546,0,1150	9	0	1	0
chr1	235181800	235181800	C	T	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_031371:exon19:c.G2861A:p.R954Q,ARID4B:NM_001206794:exon20:c.G3119A:p.R1040Q,ARID4B:NM_016374:exon20:c.G3119A:p.R1040Q	.	434	1080	7	1	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0031	0.00279553	0.0031	0.0003	0.0024	0	0.0107	0.0040	0.0011	0.0005	0.0031759	491	154602	rs114272232	0.0040	0.0040	0.0042	0.0038	0.0054	0.0039	0.0039	0.0043	0.0043	0.0008	0.0020	0.0024	7.557e-05	0.0087	0.0054	0.0044	0.0040	0.0007	0.0032	0.0032	0.0030	0.0034	0.0041	0.0029	0.0029	0.0037	0.0035	0.0008	0	0.0020	0.0029	0	0.0112	0.0068	0.0041	0.0038	0.0008	0.605	0.05618	T	0.432	0.13634	T	0.0	0.11197	B	0.0	0.11217	B	0.508356	0.11871	N	0.787746	0.993865	0.23633	N	0.205	0.09354	N	1.97	0.22270	T	0.23	0.04613	N	0.114	0.12341	-0.9550	0.40096	T	0.013	0.04985	T	10	0.00255844	0.00039	T	.	.	.	0.024	0.04979	.	.	0.226560886239	0.22246	0.08373127721139197	0.08307	0.272249793805	0.29735	0.233019977808	0.02199	T	0.175217	0.52472	T	-0.618723	0.00112	T	-0.652134	0.08805	T	0.0136463470301373	0.00253	T	0.855114	0.54241	D	0.019188302	0.00445	0.024942515	0.00524	0.019188302	0.00445	0.024942515	0.00524	-1.876	0.02879	T	.	.	0.059	0.01011	B	.;.;.	.;.;.	1.939173	0.24630	16.47	0.89787046297930961	0.19100	0.48940	0.28320	N	AEFBI	0.058728	0.11038	N	-0.691329180457241	0.16267	0.8272806	-0.507078506154954	0.21960	1.190507	0.0399759274662575	0.14418	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	0.591	0.16648	0.615000	0.24023	0.425000	0.18262	0.549000	0.26987	1.000000	0.71638	0.989000	0.31174	0.997000	0.79791	0.0:0.4233:0.0:0.5767	7.638	0.27445	963	0.08280	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2336.43	36	chr1	235181800	.	C	T	2336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.562;DP=487;ExcessHet=0;FS=7.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.545;SOR=0.332	GT:AD:DP:GQ:PL	0/1:81,90:171:99:2348,0,2017	9	0	1	0
chr1	236024207	236024207	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon9:c.C1991T:p.S664F	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.276681282019	.	.	5.033e-05	9.932e-05	0	0	0	0	0.0023	0.0002	3.88e-05	6	154602	rs781704791	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	2.698e-06	8.279e-05	0.0002	1.313e-05	1.313e-05	0	2.688e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.53900	D	0.023	0.60337	D	0.023	0.61118	B	0.023	0.57337	B	0.000874	0.41335	N	0.215575	0.955399	0.37923	D	1.975	0.53506	M	-2.45	0.88847	D	-3.43	0.67941	D	0.502	0.56231	0.646	0.92492	D	0.687	0.89187	D	10	0.41427	0.56434	T	0.276681	0.90081	D	0.470	0.76421	0.457	0.52265	0.912266846232	0.91139	0.5019394987227779	0.50115	0.788420541675	0.65640	0.472366809845	0.35005	T	0.429163	0.77805	T	-0.0792145	0.39841	T	-0.0721276	0.65474	T	0.591818153858185	0.36078	D	0.758424	0.38228	T	0.21796075	0.44291	0.22134997	0.46942	0.21796075	0.44291	0.22134997	0.46941	-9.03	0.75630	D	0.1697063097645595	0.21295	0.179	0.39012	B	.;.	.;.	4.611544	0.73136	25.9	0.99816744225151433	0.89973	0.98783	0.86796	D	AEFDBI	0.869853	0.79056	D	0.278257327753029	0.55049	3.669197	0.367352025696093	0.59559	4.13487	0.999944501238077	0.47345	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.73	4.82	0.61641	4.976000	0.63501	6.632000	0.56155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0704:0.0:0.9296:0.0	14.476	0.67125	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	432.43	36	chr1	236024207	.	G	A	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.814;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.799;SOR=0.538	GT:AD:DP:GQ:PL	0/1:14,18:32:99:444,0,348	9	0	1	0
chr1	240207567	240207599	GGCATACCTCCTCCGCCGCCTCTACCCGGAGCA	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2755_2787del:p.P921_I931del,FMN2:NM_001305424:exon6:c.2767_2799del:p.P925_I935del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0001	0.0022	0.0009	3.84e-05	1	26028	rs750845737	0.0001	0.0001	8.328e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.255e-05	0	0	0	0.0012	4.955e-05	0.0003	0.0013	6.207e-05	8.114e-05	6.735e-05	5.653e-05	0.0011	3.215e-05	2.409e-05	0.0004	0.0003	2.756e-05	0	0	0	0	0	0	4.458e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	777.39	78	chr1	240207566	.	GGGCATACCTCCTCCGCCGCCTCTACCCGGAGCA	G	777.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.489;SOR=0.77	GT:AD:DP:GQ:PL	0/1:48,24:72:99:789,0,1892	9	0	1	0
chr1	243330647	243330647	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G882A:p.M294I,SDCCAG8:NM_006642:exon10:c.G1176A:p.M392I,SDCCAG8:NM_001350247:exon11:c.G273A:p.M91I,SDCCAG8:NM_001350248:exon11:c.G1272A:p.M424I,SDCCAG8:NM_001350246:exon12:c.G273A:p.M91I,SDCCAG8:NM_001350251:exon13:c.G273A:p.M91I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	2052829	Senior-Loken_syndrome_7|Bardet-Biedl_syndrome_16	MONDO:MONDO:0013326,MedGen:C3150877,OMIM:613615,Orphanet:3156|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0112712139326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367586020	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.185	0.30339	T	0.181	0.29111	B	0.072	0.28043	B	0.044752	0.23606	N	0.496290	0.999278	0.21423	N	1.6	0.40776	L	0.9	0.45248	T	-1.27	0.31981	N	0.126	0.11912	-0.9975	0.30618	T	0.099	0.37034	T	10	0.042555273	0.03016	T	0.011271	0.28723	T	0.027	0.05988	0.202	0.11659	0.272205846399	0.26826	0.04519661773478437	0.04463	0.0436377138702	0.04699	0.349340200424	0.17825	T	0.01808	0.16701	T	-0.196896	0.21252	T	-0.520604	0.20232	T	0.0960584911289023	0.11918	T	0.838616	0.51177	T	0.089960046	0.21035	0.13147321	0.31570	0.089960046	0.21035	0.13147321	0.31569	-3.009	0.10278	T	0.07840093510325112	0.03763	0.202	0.44174	B	.;.	.;.	1.258929	0.16566	12.62	0.970529907325835	0.32159	0.14306	0.18333	N	AEFBI	0.042510	0.06605	N	-0.355318202192905	0.27077	1.482753	-0.307275694659543	0.27864	1.549174	0.00467988467669328	0.10667	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	2.54	0.29674	-0.075000	0.11392	0.747000	0.21206	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.886000	0.42526	0.0:0.2402:0.6123:0.1475	9.077	0.35688	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	119.43	46	chr1	243330647	.	G	A	119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.251;DP=742;ExcessHet=0;FS=67.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.01;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,22:163:99:0|1:243330647_G_A:131,0,5160:243330647	9	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	257.43	46	chr1	243330649	.	T	C	257.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.762;DP=835;ExcessHet=0.7463;FS=120.026;InbreedingCoeff=-0.1754;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.49;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,22:163:99:0|1:243330647_G_A:131,0,5160:243330647	7	0	3	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	575.57	46	chr1	243330650	.	G	A	575.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.207;DP=1009;ExcessHet=1.5895;FS=128.873;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.64;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,22:161:99:0|1:243330647_G_A:136,0,5116:243330647	6	0	4	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3212.14	93	chr1	248441544	.	G	A	3212.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.25;DP=1127;ExcessHet=0.2348;FS=2.981;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=44.53;MQRankSum=8.15;QD=14.09;ReadPosRankSum=1.88;SOR=0.519	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1204,0,1530	8	0	2	0
chr2	6865411	6865411	G	C	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_001256477:exon1:c.C286G:p.Q96E,CMPK2:NM_001256478:exon1:c.C286G:p.Q96E,CMPK2:NM_207315:exon1:c.C286G:p.Q96E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.245554489239	.	0.000798722	0	.	.	.	.	.	.	0	0.0002689	7	26028	rs551328105	0.0002	0.0002	8.388e-05	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	0	0	0	0	0	0.0003	0	0.0001	0.0042	0.0001	0.0001	3.862e-05	0.0003	0.0046	9.759e-05	8.271e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.2	0.20381	T	0.482	0.11829	T	0.135	0.27304	B	0.04	0.23831	B	0.084806	0.20676	N	0.473077	0.999962	0.18878	N	0.975	0.24501	L	0.87	0.46412	T	-0.74	0.20791	N	0.232	0.26111	-1.0600	0.11756	T	0.057	0.24130	T	10	0.013622165	0.00288	T	0.245554	0.88891	D	0.073	0.21317	0.349	0.34598	0.487348339145	0.48367	0.34831993241837295	0.34745	0.400708583971	0.41073	0.834252715111	0.87214	D	0.033367	0.22885	T	-0.166219	0.25810	T	-0.476539	0.24814	T	0.185509696602821	0.19576	T	0.592541	0.22223	T	0.16578926	0.36873	0.19702576	0.43463	0.16578926	0.36873	0.19702576	0.43462	-3.786	0.20595	T	.	.	0.157	0.37121	B	.;.;.	.;.;.	2.186192	0.27867	17.61	0.47504328680118674	0.03889	0.95812	0.66259	D	AEFDBHCIJ	0.158337	0.28398	N	-0.604306175293981	0.18814	0.9798053	-0.531617187099911	0.21296	1.151405	0.999999995702044	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	3.79	0.42757	1.958000	0.40027	6.667000	0.56266	0.473000	0.21965	0.099000	0.22773	1.000000	0.68203	0.749000	0.35751	0.0:0.0:0.7758:0.2242	8.841	0.34303	968	0.07033	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	66.44	18	chr2	6865411	.	G	C	66.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.136;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=-0.0534;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=-0.755;SOR=0.446	GT:AD:DP:GQ:PL	0/1:7,3:10:78:78,0,225	9	0	1	0
chr2	23642758	23642758	G	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon5:c.G848T:p.G283V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.129760174292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.861e-06	4.104e-06	2.823e-06	2.901e-06	3.708e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.708e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	0.895	0.22405	L	-0.52	0.70717	T	-1.93	0.44852	N	0.513	0.54409	-0.1337	0.79315	T	0.417	0.76333	T	10	0.43197533	0.57550	T	0.12976	0.81185	D	0.162	0.41843	.	.	0.697566865013	0.69495	0.5506231764912577	0.54988	.	.	0.656798303127	0.60952	T	0.048417	0.28012	T	0.0103677	0.53075	T	-0.222884	0.52459	T	0.773802101612091	0.44669	D	0.817618	0.47476	T	0.52037203	0.68281	0.5191524	0.72218	0.52037203	0.68282	0.5191524	0.72219	-4.753	0.34039	T	.	.	0.102	0.18080	B	.	.	3.889625	0.56581	23.8	0.99717931697801465	0.81843	0.95559	0.65204	D	AEFDBI	0.585022	0.58361	D	0.40393680723641	0.61637	4.367649	0.454208103627809	0.64989	4.767138	0.999998816889082	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	4.060000	0.57191	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.649	0.91381	930	0.16408	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	815.43	35	chr2	23642758	.	G	T	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.395;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,35:66:99:827,0,714	9	0	1	0
chr2	24122454	24122454	C	T	exonic	PFN4	.	nonsynonymous SNV	PFN4:NM_199346:exon2:c.G82A:p.E28K	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0786946541733	0.0029	0.000998403	0.0023	0.0010	0.0016	0	0.0002	0.0032	0.0022	0.0018	0.0023027	356	154602	rs79726112	0.0030	0.0030	0.0030	0.0030	0.0142	0.0029	0.0029	0.0117	0.0108	0.0013	0.0020	0.0124	0	0.0002	0.0142	0.0030	0.0039	0.0021	0.0022	0.0022	0.0024	0.0020	0.0032	0.0020	0.0019	0.0029	0.0027	0.0008	0	0.0020	0.0101	0	0.0002	0.0034	0.0032	0.0052	0.0010	0.028	0.46129	D	0.04	0.50809	D	0.979	0.59044	D	0.777	0.57175	P	0.000532	0.43581	D	0.099289	0.996221	0.43084	D	2.155	0.60227	M	-2.0	0.85393	D	-1.97	0.45587	N	0.473	0.50868	0.236	0.86507	D	0.588	0.85254	D	10	0.009845048	0.00221	T	0.078695	0.73063	D	0.526	0.79947	.	.	0.866705139298	0.86540	0.5705626291086122	0.56984	0.283278606516	0.30776	0.472666978836	0.35046	T	0.479601	0.80894	T	-0.240845	0.15241	T	-0.119572	0.61839	T	0.023854191259377	0.01126	T	0.784022	0.42156	T	0.16198626	0.36245	0.17695953	0.40265	0.16198626	0.36244	0.17695953	0.40265	-2.007	0.03207	T	.	.	0.176	0.38498	B	.	.	4.410877	0.68239	25.2	0.99896437978815156	0.96895	0.78735	0.38891	D	AEFDGBCI	0.654967	0.62746	D	0.406869818721528	0.61800	4.386025	0.384488827819136	0.60607	4.250301	0.999999991031277	0.74766	0.615755	0.39536	0	0.541556	0.11502	0	0.618376	0.41669	0	0.651492	0.60203	0	.	.	5.04	5.04	0.67293	4.124000	0.57676	7.532000	0.59933	0.599000	0.40250	0.868000	0.30757	1.000000	0.68203	0.441000	0.27694	0.0:1.0:0.0:0.0	14.290	0.65820	301	0.87912	.	.	.	.	.	.	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	0.017641	0.020202	0.013587	0.038235	0.150000	0.008621	0.018293	0.011450	0.05	1385.43	41	chr2	24122454	.	C	T	1385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.173;DP=446;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.871;SOR=0.538	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1397,0,1149	9	0	1	0
chr2	25749733	25749733	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G1043A:p.G348E,ASXL2:NM_001369346:exon10:c.G1649A:p.G550E,ASXL2:NM_018263:exon11:c.G1823A:p.G608E	Shashi-Pena syndrome, Autosomal dominant	427	1093	2	0	0	2	0.000914077	.	.	.	1620283	Inborn_genetic_diseases|not_provided|ASXL2-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0209979025413	8.1e-05	0.000399361	0.0003	0	0.0008	0	0	0.0004	0	0	0.0002393	37	154602	rs200842793	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0008	0.0007	0	0.0011	4.565e-05	0	0	0.0015	0.0002	0.0004	4.069e-05	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	4.815e-05	0	0.0016	0	0	0	0.0034	0.0003	0.0009	0	0.002	0.72154	D	0.844	0.29639	T	0.813	0.57599	P	0.478	0.55268	P	0.088797	0.20462	N	0.551240	0.644416	0.32905	D	2.045	0.56016	M	0.99	0.41750	T	-0.51	0.18670	N	0.336	0.39558	-0.8491	0.52031	T	0.141	0.46016	T	10	0.022847444	0.00581	T	0.020998	0.43698	T	0.125	0.34456	.	.	0.0934897674506	0.08844	0.36358191546992014	0.36272	0.462022161633	0.45735	0.498874366283	0.38671	T	0.175868	0.52560	T	-0.381999	0.03026	T	-0.371932	0.36662	T	0.0732275526110867	0.09098	T	0.888711	0.61924	D	0.16782938	0.37203	0.20793429	0.45073	0.16782938	0.37203	0.20793429	0.45072	-3.662	0.18759	T	0.17587746179103347	0.22413	0.190	0.40810	B	.;.;.	.;.;.	3.399299	0.47106	22.4	0.98892028988450542	0.48019	0.84822	0.43913	D	AEFBI	0.108968	0.21660	N	0.14244361078778	0.48455	3.057532	0.17920969827386	0.48709	3.083	0.845253600631629	0.24941	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	4.27	0.50009	1.001000	0.29384	1.428000	0.26422	0.549000	0.26987	0.993000	0.37899	0.999000	0.35428	0.980000	0.58198	0.1396:0.7263:0.1341:0.0	11.692	0.50785	704	0.57414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1950.14	34	chr2	25749733	.	C	T	1950.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=460;ExcessHet=0.2348;FS=3.631;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.399;SOR=0.446	GT:AD:DP:GQ:PL	0/1:40,34:74:99:916,0,1009	8	0	2	0
chr2	28539119	28539119	C	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon11:c.C672A:p.N224K,PLB1:NM_153021:exon11:c.C639A:p.N213K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0268913967088	.	0.00159744	0.0008	0	8.645e-05	0	0	0	0	0.0056	0.0006792	105	154602	rs201950380	0.0004	0.0004	0.0002	0.0005	0.0061	0.0004	0.0003	0.0057	0.0055	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0061	0.0002	0.0002	0.0001	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.972	0.92359	D	0.000044	0.53742	D	0.123571	0.857681	0.28403	N	3.31	0.90591	M	1.32	0.35219	T	-5.83	0.88361	D	0.808	0.80375	-0.3204	0.74410	T	0.389	0.74335	T	10	0.012284219	0.00265	T	0.026891	0.49757	D	0.289	0.60808	0.695	0.83219	0.28798054836	0.28402	0.6930204789328924	0.69242	0.157749596145	0.17814	0.611724495888	0.54559	T	0.10685	0.41854	T	-0.379839	0.03123	T	-0.315916	0.43021	T	0.289925636235644	0.24586	T	0.764923	0.42944	T	0.57153183	0.71145	0.4449027	0.67656	0.57153183	0.71146	0.4449027	0.67656	-11.117	0.80296	D	.	.	0.975	0.91282	P	.;.;.	.;.;.	3.694145	0.52654	23.3	0.99745633978114878	0.83852	0.98530	0.83766	D	AEFDBHCI	0.311580	0.41727	N	0.205292764326764	0.51454	3.326612	0.17865965581313	0.48679	3.080605	0.998614306679977	0.37309	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	2.43	0.28797	1.256000	0.32524	1.214000	0.24928	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.6856:0.0:0.3144	7.735	0.27975	612	0.66786	.;Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2068.43	36	chr2	28539119	.	C	A	2068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.446;DP=479;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.758;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,88:135:99:1|0:28539114_G_C:2080,0,1690:28539114	9	0	1	0
chr2	29070955	29070955	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3307G:p.R1103G	.	0	1520	2	0	0	2	0.000657462	.	.	.	884654	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00843649577828	0.0002	0.000199681	0.0002	0	0	0	0	6.105e-05	0	0.0010	0.0001358	21	154602	rs375443061	7.457e-05	7.525e-05	4.357e-05	0.0001	0.0009	6.316e-05	5.874e-05	0.0008	0.0007	0	4.472e-05	0	2.519e-05	0	0.0005	1.709e-05	6.623e-05	0.0009	3.299e-05	3.285e-05	2.581e-05	4.049e-05	0.0006	1.265e-05	8.01e-06	0.0002	9.093e-05	0	0	0	0	0	0	0	2.946e-05	0	0.0006	0.283	0.15354	T	0.435	0.13518	T	0.125	0.26866	B	0.039	0.23607	B	0.174443	0.17279	N	0.585904	1	0.08975	N	.	.	.	2.09	0.20122	T	-1.4	0.34596	N	0.068	0.04072	-1.0236	0.22541	T	0.031	0.13242	T	10	0.014190376	0.00299	T	0.008436	0.22332	T	0.029	0.06676	.	.	0.202949470691	0.19918	0.0918954900771021	0.09122	0.013806529044	0.01320	.	.	.	0.006609	0.06037	T	-0.637126	0.00087	T	-0.752718	0.03381	T	0.0104275821443778	0.00143	T	0.413759	0.10783	T	0.061695296	0.12805	0.050455235	0.07922	0.062107082	0.12934	0.041946378	0.04884	-3.316	0.13945	T	.	.	0.069	0.03162	B	.	.	0.878960	0.12522	9.051	0.89386227866344115	0.18752	0.30761	0.24165	N	AEFDBI	0.185858	0.31318	N	-0.895985071674855	0.10937	0.5252085	-0.928013551089352	0.11435	0.5824985	0.122246644503087	0.16909	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	0.166	0.14287	0.100000	0.15067	-0.869000	0.07110	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.561000	0.30436	0.0:0.1948:0.2348:0.5704	5.864	0.18011	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	7454.43	34	chr2	29070955	.	T	C	7454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.333;DP=1040;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.06;SOR=0.669	GT:AD:DP:GQ:PL	0/1:364,326:690:99:7466,0,8637	9	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	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	0.05	2734.43	48	chr2	38071251	.	C	T	2734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.031;SOR=0.693	GT:AD:DP:GQ:PL	0/1:119,117:236:99:2746,0,2514	9	0	1	0
chr2	38826005	38826005	A	C	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon16:c.T2550G:p.F850L,DHX57:NM_198963:exon16:c.T2856G:p.F952L	.	431	1090	1	0	0	1	0.000458505	.	.	.	3219526	DHX57-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0370343606611	7.7e-05	0.000798722	0.0005	0	8.652e-05	0	0	5.998e-05	0	0.0035	0.0004269	66	154602	rs201583373	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	2.519e-05	0	0.0003	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.229e-05	0.0026	0.0021	0	0	0.0001	0	0	0	0	4.409e-05	0	0.0039	.	.	.	0.012	0.63918	D	0.908	0.50127	P	0.626	0.51600	P	0.000023	0.55875	D	0.000000	0.999414	0.46970	D	0.24	0.09707	N	.	.	.	.	.	.	0.658	0.66787	-0.6408	0.63112	T	0.271	0.64245	T	10	0.017892092	0.00385	T	0.037034	0.57367	D	.	.	0.661	0.79894	0.527958119908	0.52444	0.36180615434691105	0.36094	.	.	0.748356878757	0.74204	T	0.493048	0.81676	T	-0.205285	0.20046	T	-0.068493	0.65733	T	0.103152001197699	0.12700	T	0.950205	0.80929	D	0.37587073	0.59016	0.27807185	0.53765	0.37587073	0.59016	0.27807185	0.53764	-9.263	0.69374	D	.	.	0.918	0.84053	P	.	.	3.143192	0.42517	21.6	0.99552066959852803	0.71211	0.71527	0.35051	D	AEFBCI	0.146851	0.27039	N	-0.0977904261448906	0.37487	2.181772	-0.00192462490022922	0.39628	2.352589	0.267659088788325	0.18858	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	3.15	0.35301	1.767000	0.38131	0.248000	0.16392	0.756000	0.94297	1.000000	0.71638	0.243000	0.23865	0.994000	0.71098	0.7319:0.1306:0.1375:0.0	6.493	0.21325	685	0.59416	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001010	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	1155.43	35	chr2	38826005	.	A	C	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=411;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.953;SOR=0.951	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1167,0,1121	9	0	1	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G,ARHGEF33:NM_001367623:exon7:c.C410G:p.A137G	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	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	0.002500	0.005319	0.000000	0.000000	0.083333	0.000000	0.005882	0.000000	0.05	887.43	33	chr2	38931156	.	C	G	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.398;DP=415;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.117;SOR=0.82	GT:AD:DP:GQ:PL	0/1:60,43:103:99:899,0,1483	9	0	1	0
chr2	38997327	38997327	C	T	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382394:exon18:c.G2869A:p.V957I,SOS1:NM_001382395:exon18:c.G2890A:p.V964I,SOS1:NM_005633:exon18:c.G2890A:p.V964I	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0135108109383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.095	0.39492	T	0.787	0.44504	P	0.916	0.65201	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	1.82	0.25018	T	-0.85	0.24244	N	0.485	0.54059	-1.0958	0.04639	T	0.110	0.39556	T	10	0.35869408	0.52556	T	0.013511	0.32968	T	0.216	0.50959	0.393	0.41770	0.541174676907	0.53770	0.542136211890831	0.54138	1.37415804152	0.84606	0.711332380772	0.68786	T	0.421525	0.77289	T	-0.0405982	0.45861	T	-0.296093	0.45134	T	0.887475550174713	0.53797	D	0.984602	0.94707	D	0.40846905	0.61314	0.3602564	0.61470	0.40846905	0.61315	0.3602564	0.61470	-12.23	0.85953	D	0.2880772582000029	0.38431	0.554	0.69763	A	.;.;.	.;.;.	4.638914	0.73833	26.1	0.99856975094989064	0.93548	0.98796	0.86965	D	AEFBI	0.837856	0.75544	D	0.562209593713705	0.70828	5.559305	0.648864023752546	0.78527	6.89403	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.9	5.9	0.94952	7.410000	0.79281	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.282	0.98522	471	0.78036	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1872.43	50	chr2	38997327	.	C	T	1872.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=523;ExcessHet=0;FS=5.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.028;SOR=0.872	GT:AD:DP:GQ:PL	0/1:71,80:151:99:1884,0,1536	9	0	1	0
chr2	39288141	39288141	G	C	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon19:c.C1391G:p.P464R,MAP4K3:NM_003618:exon20:c.C1454G:p.P485R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00654478571271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886533908	7.525e-06	7.524e-06	4.084e-06	1.1e-05	8.116e-05	4.04e-06	2.95e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	6.623e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.168	0.30631	T	0.0	0.30086	B	0.0	0.32546	B	0.000001	0.84330	D	0.055749	1	0.81001	D	2.65	0.77586	M	2.18	0.18875	T	-1.25	0.35194	N	0.374	0.47301	-1.0796	0.07426	T	0.043	0.18701	T	10	0.1397121	0.26562	T	0.006545	0.17243	T	0.064	0.18567	0.271	0.22052	0.275349458131	0.27150	0.2661358171578992	0.26526	0.122480938895	0.13800	0.507221341133	0.39834	T	0.143973	0.48035	T	-0.161918	0.26466	T	-0.373506	0.36479	T	0.28841155270859	0.24523	T	0.947905	0.79907	D	0.12130287	0.28527	0.1606548	0.37409	0.12130287	0.28527	0.1606548	0.37408	-8.29	0.63048	D	.	.	0.157	0.39982	B	.;.;.	.;.;.	3.598026	0.50803	23.0	0.98577564088901926	0.43193	0.97315	0.73978	D	AEFBI	0.674719	0.64035	D	-0.0267879387354732	0.40646	2.417321	0.180731113663803	0.48792	3.090427	0.999999975000407	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.681000	0.61353	9.925000	0.82535	0.507000	0.23093	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.946	0.97184	416	0.81733	.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	429.43	34	chr2	39288141	.	G	C	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.793;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.551;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,19:43:99:441,0,622	9	0	1	0
chr2	47060786	47060786	C	A	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288955:exon18:c.C1108A:p.Q370K,TTC7A:NM_020458:exon19:c.C2170A:p.Q724K,TTC7A:NM_001288951:exon20:c.C2242A:p.Q748K,TTC7A:NM_001288953:exon20:c.C2068A:p.Q690K	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	433	1081	8	0	0	8	0.00368664	.	.	.	518290	Multiple_gastrointestinal_atresias|not_provided	MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	0.0172749033905	0.0050	0.00259585	0.0050	0.0015	0.0026	0	0.0014	0.0064	0.0046	0.0076	0.0050323	778	154602	rs140166160	0.0071	0.0071	0.0072	0.0071	0.0082	0.0070	0.0070	0.0081	0.0080	0.0012	0.0037	0.0017	5.049e-05	0.0009	0.0014	0.0082	0.0065	0.0069	0.0045	0.0045	0.0044	0.0046	0.0072	0.0042	0.0041	0.0067	0.0065	0.0018	0	0.0051	0.0006	0	0.0006	0	0.0072	0.0028	0.0056	0.203	0.20154	T	0.607	0.07842	T	0.115	0.28995	B	0.138	0.33406	B	0.023132	0.26501	N	0.435749	0.920446	0.27803	N	1.39	0.34934	L	-0.8	0.73845	T	-1.17	0.29933	N	0.256	0.33904	-0.6438	0.62983	T	0.232	0.59855	T	10	0.004559338	0.00095	T	0.017275	0.38914	T	0.147	0.38986	.	.	0.81322328491	0.81147	0.3987006147637663	0.39785	0.0782521929742	0.08805	0.437471330166	0.30232	T	0.068697	0.33522	T	-0.348809	0.04802	T	-0.263428	0.48482	T	0.00817628925161954	0.00098	T	0.89811	0.64401	D	0.107838996	0.25498	0.093952246	0.22216	0.112687364	0.26620	0.107378416	0.25848	-8.714	0.65837	D	0.6792277297159163	0.75540	0.131	0.39511	B	.;.;.	.;.;.	3.168192	0.42956	21.6	0.92831952960810604	0.22364	0.81109	0.40583	D	AEFGBCI	0.252822	0.37243	N	0.0385814017361566	0.43617	2.651236	0.214364165804608	0.50644	3.254331	0.999999438103932	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	1.216000	0.32046	7.617000	0.62147	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.0:0.9256:0.0:0.0744	12.944	0.57759	909	0.22467	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	508.43	34	chr2	47060786	.	C	A	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=344;ExcessHet=0;FS=8.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.01;SOR=2.207	GT:AD:DP:GQ:PL	0/1:15,19:34:99:520,0,376	9	0	1	0
chr2	54853805	54853805	G	C	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon10:c.G1607C:p.G536A	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00156392496972	.	0.000798722	0.0022	0	0	0	0	0	0	0.0061	0.0003363	52	154602	rs115858517	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0.0002	2.781e-06	0.0003	0.0050	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.573e-05	6.278e-05	0.0022	0.0018	2.406e-05	0	0	0	0	0	0	0	0	0.0035	0.414	0.10020	T	0.236	0.24694	T	0.328	0.33195	B	0.162	0.34839	B	0.021058	0.26911	U	0.000000	0.999998	0.58761	D	0.84	0.21119	L	0.8	0.48769	T	-3.2	0.64710	D	0.617	0.63289	-1.0519	0.13872	T	0.097	0.36315	T	10	0.011818379	0.00257	T	0.001564	0.02471	T	0.332	0.65424	.	.	0.521384976177	0.51782	0.7742563620733262	0.77375	0.269192573069	0.29436	0.809107363224	0.83356	D	0.17385	0.52286	T	-0.129781	0.31530	T	0.0416172	0.73033	D	0.0753021396315627	0.09376	T	0.892211	0.62852	D	0.22933316	0.45669	0.29600555	0.55633	0.22933316	0.45669	0.29600555	0.55632	-3.804	0.20864	T	.	.	0.159	0.35140	B	.	.	3.073840	0.41330	21.3	0.93672203729906467	0.23567	0.98338	0.81774	D	AEFDIJ	0.796654	0.72372	D	0.0645268760426372	0.44813	2.748601	0.2572174020719	0.53062	3.477027	0.999999999645701	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.77	5.77	0.91077	6.313000	0.72809	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.001	0.97407	320	0.86992	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	767.43	34	chr2	54853805	.	G	C	767.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.755;DP=366;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.82;SOR=0.601	GT:AD:DP:GQ:PL	0/1:30,37:67:99:779,0,621	9	0	1	0
chr2	58048935	58048935	T	C	exonic	VRK2	.	nonsynonymous SNV	VRK2:NM_001130480:exon2:c.T104C:p.I35T,VRK2:NM_001130481:exon2:c.T104C:p.I35T,VRK2:NM_001130482:exon2:c.T35C:p.I12T,VRK2:NM_001130483:exon2:c.T104C:p.I35T,VRK2:NM_006296:exon2:c.T104C:p.I35T,VRK2:NM_001288838:exon4:c.T104C:p.I35T,VRK2:NM_001288837:exon5:c.T104C:p.I35T	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	.	0.0026	0.00319489	0.0049	0.0002	0.0005	0	0.0039	0.0038	0.0121	0.0177	0.0043466	672	154602	rs144870539	0.0037	0.0037	0.0030	0.0043	0.0179	0.0036	0.0035	0.0172	0.0169	0.0003	0.0011	0.0008	2.522e-05	0.0039	0.0118	0.0029	0.0039	0.0179	0.0028	0.0028	0.0025	0.0031	0.0160	0.0026	0.0025	0.0131	0.0120	0.0004	0	0.0027	0.0006	0.0002	0.0040	0.0068	0.0035	0.0014	0.0160	0.0	0.91255	D	0.001	0.83351	D	0.955	0.58077	P	0.823	0.70482	P	0.000000	0.84330	D	0.087751	0.999707	0.48408	D	4.675	0.99424	H	-0.54	0.70950	T	-4.43	0.79998	D	0.816	0.84609	0.691	0.93060	D	0.691	0.89342	D	10	0.013455421	0.00285	T	.	.	.	0.538	0.80664	.	.	0.912745004354	0.91186	0.8664656802548126	0.86611	0.108113305918	0.12188	0.538242340088	0.44198	T	0.350059	0.71782	T	-0.0795587	0.39787	T	0.127223	0.78711	D	0.116437750245254	0.14078	T	0.836416	0.61387	T	0.90567607	0.91895	0.781187	0.87102	0.90567607	0.91896	0.781187	0.87103	-9.921	0.81373	D	.	.	0.152	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.442716	0.68994	25.3	0.99838950329381626	0.91972	0.90931	0.52533	D	AEFDBCI	0.698749	0.65632	D	0.929905970733908	0.93146	11.85038	0.849755546974797	0.93001	11.76317	0.99999999725518	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.96	5.96	0.96695	5.175000	0.64857	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	14.999	0.71112	780	0.47616	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	777.43	35	chr2	58048935	.	T	C	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.224;DP=388;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.204;SOR=0.54	GT:AD:DP:GQ:PL	0/1:30,32:62:99:789,0,794	9	0	1	0
chr2	69437368	69437368	G	A	exonic	NFU1	.	nonsynonymous SNV	NFU1:NM_001002755:exon1:c.C55T:p.R19C	Multiple mitochondrial dysfunctions syndrome 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0640424200432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	2.736e-06	1.367e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.19225	T	0.064	0.44905	T	0.001	0.07471	B	0.001	0.04355	B	0.040935	0.24004	N	0.299341	1	0.81001	D	0.625	0.15840	N	-0.11	0.64445	T	0.25	0.04456	N	0.281	0.31814	-1.0711	0.09173	T	0.104	0.38193	T	10	0.11906245	0.22524	T	0.064042	0.69155	D	0.035	0.08770	0.487	0.57098	0.551177841964	0.54775	0.4129507022029496	0.41211	0.187875289046	0.21116	0.443632930517	0.31073	T	0.009637	0.08763	T	-0.120051	0.33115	T	-0.410222	0.32200	T	0.629459202289581	0.37595	D	0.527847	0.17429	T	0.06674974	0.14392	0.052943837	0.08822	0.06674974	0.14392	0.052943837	0.08821	-3.856	0.21644	T	.	.	0.240	0.47459	B	.	.	2.673461	0.34861	19.74	0.99286150006202711	0.58078	0.04105	0.09574	N	ALL	0.095503	0.19295	N	-0.839216319858415	0.12316	0.5996054	-0.724125466927259	0.16360	0.8651172	0.999999999804826	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.97	2.17	0.26736	1.698000	0.37413	1.840000	0.29181	0.671000	0.69459	0.461000	0.26652	0.005000	0.19230	0.186000	0.21481	0.3003:0.0:0.6997:0.0	6.670	0.22256	749	0.51929	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	732.43	34	chr2	69437368	.	G	A	732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.969;DP=368;ExcessHet=0;FS=1.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=1.06;SOR=0.982	GT:AD:DP:GQ:PL	0/1:19,29:48:99:744,0,382	9	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.15	3677.45	97	chr2	70921265	.	C	A	3677.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.035;DP=572;ExcessHet=0.7463;FS=2.122;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.437;SOR=0.573	GT:AD:DP:GQ:PL	0/1:26,46:72:99:1163,0,635	7	0	3	0
chr2	70965068	70965068	T	C	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon14:c.T1489C:p.F497L	Renal tubular acidosis with deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	0.162640802747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.003	0.76473	D	0.499	0.37135	P	0.595	0.52381	P	0.000033	0.55875	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	-1.94	0.85173	D	-3.68	0.70314	D	0.603	0.62611	0.387	0.88894	D	0.648	0.87738	D	10	0.81215584	0.80488	D	0.162641	0.84217	D	0.802	0.93543	0.73	0.86373	0.972512461305	0.97221	0.8273733214245099	0.82695	0.790452143847	0.65761	0.669158577919	0.62719	T	0.812941	0.95345	D	0.206172	0.74470	D	0.0583759	0.74138	D	0.991531670093536	0.81842	D	0.810219	0.46129	T	0.38336316	0.59559	0.40933713	0.65225	0.38336316	0.59559	0.40933713	0.65225	-7.626	0.58492	D	.	.	0.960	0.92090	P	.;.;.	.;.;.	5.317260	0.89256	29.9	0.99748977429184305	0.84077	0.92891	0.56800	D	ALL	0.932800	0.92371	D	0.439806125470078	0.63627	4.600146	0.403773091818472	0.61800	4.385246	1.0	0.98316	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.81	3.81	0.43020	8.017000	0.88732	7.765000	0.68366	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	10.596	0.44531	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	37	chr2	70965068	.	T	C	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.325;DP=403;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-0.039;SOR=0.437	GT:AD:DP:GQ:PL	0/1:37,22:59:99:495,0,984	9	0	1	0
chr2	72132323	72132323	G	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon5:c.C1218A:p.H406Q,CYP26B1:NM_019885:exon6:c.C1443A:p.H481Q	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	.	.	.	.	.	.	.	.	.	2670885	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.0523542808595	.	.	3.56e-05	0	0	0	0	4.205e-05	0	7.904e-05	2.59e-05	4	154602	rs781553628	5.008e-05	5.062e-05	4.366e-05	5.658e-05	0.0003	4.07e-05	3.744e-05	0.0001	9.53e-05	0	0	0	0	0	0.0003	4.684e-05	4.983e-05	0.0002	3.942e-05	3.94e-05	5.139e-05	2.69e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.008	0.61437	D	0.01	0.65728	D	0.621	0.39935	P	0.593	0.50536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	-0.28	0.67543	T	-5.8	0.90100	D	0.44	0.48872	-0.6805	0.61349	T	0.298	0.66970	T	10	0.42071074	0.56844	T	0.052354	0.65037	D	0.521	0.79643	0.428	0.47515	0.851778660072	0.85035	0.8981542765135034	0.89786	0.982812002586	0.73806	0.724378466606	0.70686	T	0.495088	0.81796	T	0.128536	0.67218	D	0.152363	0.80334	D	0.757637441158295	0.43717	D	0.952605	0.82752	D	0.7508441	0.80917	0.7409388	0.84687	0.7508441	0.80919	0.7409388	0.84688	-6.338	0.49023	T	.	.	0.678	0.72075	P	.;.;.	.;.;.	4.307261	0.65809	24.9	0.99628419429472692	0.75898	0.95252	0.64004	D	AEFDGBCI	0.939275	0.93966	D	0.503159872423481	0.67276	5.060117	0.597620183611261	0.74769	6.193688	0.999999967164663	0.74766	0.623552	0.39893	0	0.573888	0.26702	0	0.578056	0.29568	0	0.579976	0.35079	0	.	.	5.64	5.64	0.86480	7.738000	0.83897	6.679000	0.56304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	18.659	0.91423	920	0.19381	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2175.43	36	chr2	72132323	.	G	T	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=609;ExcessHet=0;FS=6.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.552;SOR=1.08	GT:AD:DP:GQ:PL	0/1:102,89:191:99:2187,0,2530	9	0	1	0
chr2	73202748	73202748	C	G	exonic	NOTO	.	nonsynonymous SNV	NOTO:NM_001134462:exon1:c.C82G:p.P28A	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	.	0.000599042	0.0055	0	0	0	0	0.0121	0	0.0034	0.0005498	85	154602	rs199642782	0.0012	0.0011	0.0011	0.0013	0.0042	0.0012	0.0011	0.0038	0.0037	0.0001	0.0010	0.0140	0	0.0004	0.0022	0.0007	0.0021	0.0042	0.0009	0.0009	0.0008	0.0010	0.0033	0.0008	0.0007	0.0021	0.0017	2.405e-05	0	0.0007	0.0138	0	9.418e-05	0.0137	0.0007	0.0024	0.0033	0.106	0.29688	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	-3.49	0.94621	D	-1.6	0.38540	N	0.173	0.18512	-0.4844	0.69209	T	0.546	0.83327	D	9	0.004879445	0.00104	T	.	.	.	0.187	0.46274	.	.	0.0846915920261	0.08053	0.19890324451906632	0.19807	.	.	0.66381072998	0.61954	T	0.095603	0.39655	T	-0.414883	0.01845	T	-0.368871	0.37020	T	0.0107926681724865	0.00153	T	0.392161	0.09760	T	0.022648614	0.00943	0.05486443	0.09518	0.022648614	0.00943	0.05486443	0.09518	-4.156	0.26112	T	.	.	0.061	0.01075	B	.	.	0.740228	0.11095	7.744	0.51853985449342788	0.04639	0.01359	0.04652	N	AEFDBI	0.024809	0.01596	N	-1.4490315996984	0.02224	0.09799306	-1.55064766528311	0.01972	0.09003617	0.998825715090349	0.37755	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	2.56	-3.79	0.04037	-0.114000	0.10729	-0.159000	0.11341	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3269:0.2326:0.3227:0.1178	1.570	0.02456	688	0.59122	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	895.43	34	chr2	73202748	.	C	G	895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=369;ExcessHet=0;FS=9.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.485;SOR=1.911	GT:AD:DP:GQ:PL	0/1:26,32:58:99:907,0,487	9	0	1	0
chr2	73814221	73814221	T	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon2:c.T842C:p.V281A,C2orf78:NM_001353344:exon2:c.T842C:p.V281A	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00559092702761	7.8e-05	0.000998403	0.0006	0	0	0	0	3.252e-05	0.0013	0.0056	0.0004528	70	154602	rs367613891	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	3.089e-05	4.92e-05	0	0	0	0.0011	4.879e-05	0.0004	0.0032	0.0001	0.0001	0.0001	0.0001	0.0029	9.142e-05	7.698e-05	0.0018	0.0014	4.811e-05	0	6.538e-05	0	0	0	0	4.41e-05	0.0005	0.0029	0.019	0.50132	D	0.028	0.54934	D	0.161	0.28372	B	0.058	0.26451	B	.	.	.	.	0.998786	0.21910	N	0	0.06538	N	.	.	.	-1.1	0.28497	N	0.175	0.18784	-1.0382	0.17863	T	0.048	0.20672	T	8	0.0073311925	0.00167	T	0.005591	0.14439	T	0.099	0.28413	.	.	0.0986583533028	0.09354	0.06813865162238072	0.06751	0.0882553721524	0.09970	.	.	.	0.057013	0.30448	T	-0.49046	0.00646	T	-0.477432	0.24720	T	0.029662827232296	0.01938	T	0.463154	0.13467	T	0.07397118	0.16567	0.08941282	0.20908	0.07397118	0.16567	0.08941282	0.20908	-3.431	0.15477	T	.	.	0.137	0.29887	B	.	.	2.048402	0.26042	16.98	0.95343494155370057	0.26718	0.80181	0.39888	D	AEFDGBI	0.050564	0.08850	N	-0.507613510879061	0.21832	1.16157	-0.394945158769478	0.25146	1.381201	0.926874892670478	0.26867	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	4.28	0.50183	0.828000	0.27088	0.590000	0.19811	0.665000	0.62972	0.959000	0.33545	0.010000	0.20010	0.012000	0.09680	0.1681:0.0:0.0:0.8319	8.775	0.33912	403	0.82567	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	774.43	34	chr2	73814221	.	T	C	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-2.428;SOR=0.746	GT:AD:DP:GQ:PL	0/1:28,29:57:99:786,0,628	9	0	1	0
chr2	74227546	74227546	C	T	exonic	SLC4A5	.	nonsynonymous SNV	SLC4A5:NM_021196:exon22:c.G2935A:p.E979K	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0186377667787	0.0007	0.000998403	0.0011	0	0.0002	0	0.0002	0.0009	0	0.0045	0.0009702	150	154602	rs149351086	0.0005	0.0005	0.0004	0.0007	0.0040	0.0005	0.0005	0.0033	0.0032	5.978e-05	8.949e-05	0.0027	0	0	0.0040	0.0003	0.0007	0.0036	0.0004	0.0004	0.0003	0.0004	0.0039	0.0003	0.0003	0.0026	0.0021	4.812e-05	0	6.533e-05	0.0023	0	0	0	0.0003	0.0009	0.0039	0.16	0.23721	T	0.193	0.28210	T	0.033	0.20350	B	0.036	0.22909	B	0.000040	0.00387	N	5.452280	1	0.08975	N	0.345	0.11182	N	-1.05	0.76690	T	-0.3	0.11913	N	0.197	0.21710	-0.8203	0.53915	T	0.262	0.63253	T	10	0.004465103	0.00092	T	0.018638	0.40769	T	0.181	0.45247	.	.	0.184867976434	0.18130	0.495103805093812	0.49431	0.287349405284	0.31136	0.312174141407	0.12236	T	0.189015	0.54311	T	-0.403601	0.02193	T	-0.35336	0.38820	T	0.0236072390239789	0.01096	T	0.60384	0.22664	T	0.073018655	0.16286	0.11038876	0.26617	0.073018655	0.16286	0.11038876	0.26616	-2.968	0.09840	T	.	.	0.118	0.23986	B	.;.	.;.	0.554204	0.09227	6.010	0.61514354951040484	0.06728	0.07490	0.13505	N	AEFDBI	0.087634	0.17769	N	-1.1432204604401	0.05892	0.2698179	-1.14736888238316	0.06815	0.3293404	0.88605354211624	0.25733	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.68	1.82	0.24209	0.009000	0.13117	0.590000	0.19811	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.3558:0.6442:0.0:0.0	10.296	0.42806	723	0.55174	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004149	0.005051	0.000000	0.000000	0.000000	0.000000	0.018405	0.003788	0.05	608.43	38	chr2	74227546	.	C	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=368;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.394;SOR=0.551	GT:AD:DP:GQ:PL	0/1:25,27:52:99:620,0,602	9	0	1	0
chr2	84441297	84441297	G	A	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon4:c.C481T:p.R161C	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	200020	not_provided|Mitochondrial_DNA_depletion_syndrome_9	MedGen:C3661900|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.737	0.0976499614704	0.0002	0.000199681	0.0004	9.612e-05	0	0	0	0.0003	0.0011	0.0016	0.0003363	52	154602	rs141331864	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	0.0001	8.944e-05	0.0020	0	0.0001	0.0009	0.0001	0.0003	0.0016	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.708e-05	0.0007	0.0005	4.819e-05	0	6.55e-05	0.0023	0	0	0	0.0001	0	0.0015	0.119	0.28026	T	0.165	0.30926	T	0.994	0.66517	D	0.567	0.49782	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	-2.54	0.89496	D	-4.36	0.76980	D	0.729	0.73015	0.457	0.89931	D	0.705	0.89834	D	10	0.30317804	0.47850	T	0.09765	0.76809	D	0.737	0.90852	.	.	0.976974186587	0.97672	0.8442613469123812	0.84387	0.0482655597038	0.05275	0.437933266163	0.30294	T	0.607788	0.87524	D	0.00165038	0.51880	T	0.189061	0.82514	D	0.337424993515015	0.26521	T	0.950805	0.81197	D	0.29183787	0.52163	0.23828743	0.49148	0.38430986	0.59627	0.30477297	0.56504	-6.407	0.49564	T	0.1886016363601669	0.24638	0.109	0.20934	B	.	.	5.120943	0.85650	28.7	0.99899953239732908	0.97199	0.97647	0.76137	D	AEFDBI	0.889855	0.82435	D	0.693869149899163	0.79230	7.034165	0.721947288452532	0.84045	8.18398	0.999999944863817	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	7.896000	0.85926	9.845000	0.81950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.449	0.87480	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	960.43	34	chr2	84441297	.	G	A	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=416;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.048;SOR=0.558	GT:AD:DP:GQ:PL	0/1:55,39:94:99:972,0,1297	9	0	1	0
chr2	85888869	85888869	G	A	exonic	ST3GAL5	.	nonsynonymous SNV	ST3GAL5:NM_001363847:exon1:c.C37T:p.P13S,ST3GAL5:NM_003896:exon1:c.C37T:p.P13S	Salt and pepper developmental regression syndrome, Autosomal recessive	118	1380	22	2	0	26	0.00933238	.	.	.	190425	not_specified|not_provided|GM3_synthase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	.	0.00359425	0.0179	0	0	0	.	0.0039	0.0323	0.0227	0.0013001	201	154602	rs559756386	0.0059	0.0054	0.0056	0.0063	0.0128	0.0058	0.0058	0.0120	0.0117	0.0005	0.0037	0.0027	4.047e-05	0.0003	0.0090	0.0061	0.0059	0.0128	0.0038	0.0038	0.0041	0.0035	0.0085	0.0035	0.0034	0.0064	0.0057	0.0010	0	0.0049	0.0032	0.0002	0	0.0068	0.0059	0.0019	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.75	0.50192	T	-0.86	0.23372	N	0.149	0.15187	-0.9829	0.34328	T	0.105	0.38440	T	9	0.004235208	0.00085	T	.	.	.	0.033	0.08068	.	.	0.0986583533028	0.09354	0.251730667870659	0.25087	0.309480003285	0.33256	0.76358371973	0.76464	T	0.258071	0.62919	T	-0.548623	0.00297	T	-0.549805	0.17346	T	0.0176413779189942	0.00496	T	0.681532	0.29028	T	0.13136855	0.30623	0.14717874	0.34841	0.10799594	0.25535	0.14037877	0.33462	-3.326	0.14074	T	.	.	0.111	0.25721	B	.;.;.	.;.;.	2.901153	0.38450	20.7	0.99381755231615077	0.61935	0.02234	0.06487	N	ALL	0.051170	0.09013	N	-0.9793501486076	0.09045	0.4264989	-1.02068146948412	0.09330	0.4636108	0.999999998092424	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	3.05	1.19	0.20120	0.114000	0.15353	0.528000	0.19223	0.567000	0.28720	0.002000	0.15269	0.805000	0.26985	0.214000	0.22296	0.1294:0.2246:0.646:0.0	4.620	0.11829	451	0.79296	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013158	0.000000	0.000000	0.021739	0.000000	0.000000	0.000000	0.057692	0.05	141.49	16	chr2	85888869	.	G	A	141.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.4;DP=100;ExcessHet=0;FS=0;InbreedingCoeff=-0.0581;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.869;SOR=0.754	GT:AD:DP:GQ:PL	0/1:5,7:12:99:153,0,122	9	0	1	0
chr2	88185635	88185635	A	G	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244676:exon8:c.A1162G:p.R388G	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0004	0.0205671	0.0110	0.0004	0	0.0582	0	0.0005	0.004	0.0255	0.0029236	452	154602	rs78406786	0.0042	0.0041	0.0035	0.0049	0.0903	0.0041	0.0041	0.0877	0.0866	0.0005	0.0003	0.0004	0.0903	0	0.0021	7.229e-05	0.0059	0.0274	0.0039	0.0040	0.0030	0.0049	0.0816	0.0037	0.0036	0.0752	0.0727	0.0007	0	6.541e-05	0.0012	0.0816	0	0	7.352e-05	0.0024	0.0278	0.01	0.56456	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.45	0.15028	T	-1.37	0.33998	N	0.254	0.28732	-0.9769	0.35705	T	0.003	0.00897	T	8	0.0027230382	0.00042	T	.	.	.	0.002	0.00045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.736114	0.00022	T	-0.752675	0.03383	T	0.00241868275584893	0.00025	T	0.461354	0.13375	T	.	.	.	.	.	.	.	.	-3.009	0.10278	T	.	.	0.073	0.04599	B	.	.	-0.065437	0.03851	0.831	0.70762589050463065	0.09402	0.01210	0.04304	N	AEFBI	0.027904	0.02363	N	-1.42978601515509	0.02381	0.1050544	-1.59195034251812	0.01704	0.07743768	0.829203699471909	0.24662	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.5	-7.0	0.01443	-1.252000	0.02990	.	.	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2048:0.1505:0.4962:0.1485	3.262	0.06447	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1490.43	33	chr2	88185635	.	A	G	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.173;DP=472;ExcessHet=0;FS=1.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.156;SOR=0.824	GT:AD:DP:GQ:PL	0/1:95,65:160:99:1502,0,2700	9	0	1	0
chr2	88185647	88185647	G	A	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244676:exon8:c.G1174A:p.V392M	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0004	0.0205671	0.0111	0.0004	0	0.0582	0	0.0005	0.004	0.0255	0.0029107	450	154602	rs76505901	0.0042	0.0041	0.0035	0.0049	0.0902	0.0041	0.0041	0.0876	0.0865	0.0006	0.0003	0.0004	0.0902	0	0.0021	8.805e-05	0.0059	0.0274	0.0040	0.0040	0.0030	0.0050	0.0820	0.0037	0.0036	0.0755	0.0730	0.0007	0	0.0001	0.0012	0.0820	0	0	0.0001	0.0024	0.0278	0.343	0.12592	T	0.0	0.92824	D	0.022	0.18677	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.41	0.15492	T	-0.51	0.15986	N	0.188	0.20528	-0.9905	0.32475	T	0.003	0.00961	T	8	0.002952516	0.00048	T	.	.	.	0.019	0.03383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.776464	0.00012	T	-0.810636	0.01651	T	0.000662787087488978	0.00006	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-5.167	0.38604	T	.	.	0.148	0.32613	B	.	.	-0.803286	0.01100	0.049	0.78178473227841427	0.12189	0.00742	0.03097	N	AEFBI	0.030221	0.03001	N	-1.40384328448825	0.02605	0.115257	-1.52476475536442	0.02155	0.09867761	0.0594787052251605	0.15163	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.77	-3.39	0.04563	-2.149000	0.01377	.	.	-2.922000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2893:0.2509:0.3325:0.1272	1.332	0.02007	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1891.43	33	chr2	88185647	.	G	A	1891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.37;DP=482;ExcessHet=0;FS=3.741;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.527;SOR=0.994	GT:AD:DP:GQ:PL	0/1:99,67:166:99:1903,0,2508	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,22:197:99:0|1:94876587_C_A:397,0,7228:94876587	3	0	7	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,47:268:99:0|1:94876587_C_A:1308,0,9138:94876587	2	0	8	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,56:290:99:0|1:94876587_C_A:1627,0,9638:94876587	1	0	9	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,67:341:99:0|1:94876671_A_G:1984,0,11203:94876671	1	0	9	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,67:340:99:0|1:94876671_A_G:1987,0,11182:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:301,47:348:99:247,0,7765	2	0	8	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:162,43:205:99:907,0,4315	0	0	10	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:191,31:222:99:286,0,5469	5	0	5	0
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	34.17	323	chr2	95855532	.	T	G	34.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.484;DP=3032;ExcessHet=0.2348;FS=0.95;InbreedingCoeff=-0.1087;MLEAC=2;MLEAF=0.1;MQ=45;MQRankSum=-2.278;QD=0.05;ReadPosRankSum=-0.614;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:254,32:286:14:.:.:14,0,6809:.	8	0	2	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:153,116:269:99:2624,0,4154	0	0	10	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:158,78:236:99:1836,0,4418	0	0	10	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:159,62:221:99:1260,0,4412	0	0	10	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,18:75:99:.:.:584,0,2334:.	3	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,40:130:99:0|1:95859969_A_AT:1388,0,3638:95859969	0	0	10	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:95859969_A_AT:1430,0,3635:95859969	0	0	10	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,40:130:99:0|1:95859969_A_AT:1409,0,3638:95859969	0	0	10	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:91,37:128:99:1281,0,2239	0	0	10	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,20:126:99:.:.:212,0,4101:.	0	0	10	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,35:123:99:.:.:1206,0,2163:.	0	0	10	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,31:114:99:0|1:95860020_G_A:1052,0,3381:95860020	0	0	10	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,30:113:99:0|1:95860020_G_A:1010,0,3384:95860020	0	0	10	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,18:85:99:.:.:555,0,1757:.	1	0	9	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,24:133:99:0|1:95927222_G_GAT:680,0,4505:95927222	0	0	10	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,28:147:99:0|1:95927222_G_GAT:818,0,4913:95927222	0	0	10	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,34:159:99:0|1:95927222_G_GAT:1051,0,5146:95927222	0	0	10	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,61:205:99:0|1:95927222_G_GAT:2128,0,5863:95927222	0	0	10	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,103:261:99:0|1:95927222_G_GAT:3809,0,6289:95927222	0	0	10	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,106:273:99:0|1:95927222_G_GAT:3847,0,6493:95927222	0	0	10	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,27:159:99:0|1:95929092_T_C:675,0,5377:95929092	0	0	10	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,34:181:99:0|1:95929092_T_C:985,0,6050:95929092	0	0	10	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,49:207:99:0|1:95929092_T_C:1582,0,6487:95929092	0	0	10	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,56:215:99:0|1:95929092_T_C:1873,0,6508:95929092	0	0	10	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,59:218:99:0|1:95929092_T_C:1963,0,6475:95929092	0	0	10	0
chr2	97118398	97118398	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon3:c.A367G:p.N123D,ANKRD36:NM_198555:exon3:c.A367G:p.N123D	.	438	1035	38	11	0	60	0.028169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00460178933778	.	0.00139776	2.506e-05	0	0	0.0001	0	3.009e-05	0	0	0.0066851	174	26028	rs2443937	0.0012	0.0058	0.0008	0.0016	0.0122	0.0011	0.0011	0.0115	0.0113	0.0014	0.0006	0.0005	0.0002	0.0028	0.0017	0.0004	0.0012	0.0122	0.0010	0.0037	0.0010	0.0011	0.0019	0.0009	0.0009	0.0012	0.0011	0.0015	0.0011	0.0005	0.0015	0.0004	0.0023	0	0.0007	0.0010	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.027324	0.25774	N	0.265087	0.999997	0.08975	N	-0.975	0.01213	N	0.13	0.60973	T	2.48	0.00239	N	0.187	0.20395	-1.1221	0.02203	T	0.059	0.24649	T	10	0.009579688	0.00216	T	0.004602	0.11377	T	0.074	0.21613	0.501	0.59304	0.163833314356	0.15978	.	.	.	.	0.796690881252	0.81459	T	0.002126	0.01528	T	-0.321649	0.06764	T	-0.699803	0.05836	T	0.000506311159347566	0.00004	T	0.39616	0.10665	T	0.033959754	0.03719	0.043797955	0.05529	0.033959754	0.03719	0.043797955	0.05529	-1.793	0.02488	T	.	.	0.060	0.16756	B	.;.;.;.	.;.;.;.	-0.510383	0.01835	0.146	0.18979839760202219	0.00621	0.00554	0.02533	N	AEFDBI	0.016678	0.00390	N	-1.46263423425929	0.02119	0.09324683	-1.4579066234517	0.02699	0.1246355	1.34041136149198E-5	0.02871	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	-0.384	0.11853	0.915000	0.28260	-3.881000	0.02476	-0.610000	0.04588	0.785000	0.29533	0.000000	0.08366	0.002000	0.04165	0.6035:0.0:0.3965:0.0	4.853	0.12905	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	213.74	39	chr2	97118398	.	A	G	213.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.74;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=0.7814;MLEAC=1;MLEAF=0.05;MQ=36.64;MQRankSum=-0.605;QD=19.43;ReadPosRankSum=-1.393;SOR=1.802	GT:AD:DP:GQ:PL	1/1:3,8:11:3:228,3,0	9	1	0	0
chr2	97118416	97118416	T	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon3:c.T385G:p.F129V,ANKRD36:NM_198555:exon3:c.T385G:p.F129V	.	444	1060	14	4	0	22	0.0102708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0020250688165	.	.	2.507e-05	0.0001	0	0	0	3.012e-05	0	0	0.0067619	176	26028	rs762049488	0.0009	0.0052	0.0006	0.0012	0.0087	0.0009	0.0008	0.0082	0.0080	0.0004	0.0007	0.0004	0.0003	0.0011	0.0021	0.0004	0.0011	0.0087	0.0005	0.0017	0.0005	0.0004	0.0009	0.0004	0.0003	0.0005	0.0004	0.0003	0	0.0009	0	0.0002	0.0006	0	0.0004	0.0019	0.0005	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000149	0.00484	N	5.678600	1	0.08975	N	0.2	0.09183	N	0.69	0.51714	T	1.1	0.01229	N	0.056	0.16308	-1.0744	0.08472	T	0.066	0.27364	T	10	0.0061421394	0.00138	T	0.002025	0.03668	T	0.032	0.07718	0.383	0.40134	0.209622950755	0.20551	.	.	.	.	0.651759684086	0.60235	T	0.001244	0.00734	T	-0.383172	0.02975	T	-0.788176	0.02215	T	0.000673424601461008	0.00006	T	0.0308969	0.00195	T	0.032773443	0.03365	0.030300733	0.01468	0.032773443	0.03365	0.030300733	0.01468	-1.315	0.01425	T	.	.	0.070	0.47404	B	.;.;.;.	.;.;.;.	-1.593066	0.00243	0.004	0.14072869723754813	0.00298	0.00105	0.00673	N	AEFDBI	0.014968	0.00262	N	-1.42318144191558	0.02436	0.1075725	-1.53803209043221	0.02059	0.09415699	6.09433903701214E-5	0.04171	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	-2.79	0.05494	-2.520000	0.01027	-20.000000	0.00162	-0.626000	0.04528	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1929:0.0:0.3105:0.4966	2.578	0.04519	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002430	0.008065	0.000000	0.000000	0.000000	0.000000	0.011719	0.000000	0.1	169.25	39	chr2	97118416	.	T	G	169.25	.	AC=2;AF=0.1;AN=20;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=0.9913;MLEAC=2;MLEAF=0.1;MQ=36.56;QD=28.21;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,6:6:18:192,18,0	9	1	0	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,58:145:99:0|1:97513219_T_C:2174,0,3479:97513219	0	0	10	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,60:152:99:0|1:97513219_T_C:2242,0,3682:97513219	0	0	10	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,69:170:99:0|1:97513244_G_T:2593,0,4011:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,76:178:99:0|1:97513244_G_T:2884,0,4054:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,76:178:99:0|1:97513244_G_T:2884,0,4054:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,84:192:99:0|1:97513268_C_T:3202,0,4282:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,85:194:99:0|1:97513268_C_T:3221,0,4306:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,85:195:99:0|1:97513268_C_T:3218,0,4333:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,89:199:99:0|1:97513268_C_T:3269,0,4281:97513268	0	0	10	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:82,35:117:99:629,0,1947	0	0	10	0
chr2	100321601	100321601	G	A	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.C493T:p.R165C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00199681	0.0039	0.0004	0.0004	0	0	0.0003	0.0029	0.0184	0.0015847	245	154602	rs377306378	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0119	3.552e-05	0.0002	0	3.168e-05	0	0.0051	0.0002	0.0010	0.0128	0.0006	0.0006	0.0003	0.0008	0.0135	0.0005	0.0004	0.0109	0.0099	4.822e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0135	0.016	0.51853	D	0.105	0.38016	T	0.944	0.53183	P	0.16	0.34752	B	0.002024	0.37411	U	0.097543	0.998676	0.45259	D	2.07	0.56829	M	-1.96	0.85091	D	-3.33	0.66206	D	0.16	0.16725	-0.3573	0.73342	T	0.398	0.75023	T	10	0.0068572164	0.00156	T	.	.	.	0.388	0.70440	.	.	0.533855592455	0.53035	0.40143752523714205	0.40058	1.08347559902	0.77202	0.908861637115	0.97361	D	0.105523	0.41607	T	-0.28242	0.10413	T	-0.166777	0.57738	T	0.0885196704075557	0.11041	T	0.717928	0.33070	T	0.2549126	0.48522	0.2176143	0.46433	0.2549126	0.48522	0.2176143	0.46432	-9.997	0.73894	D	.	.	0.394	0.59211	A	.	.	3.542654	0.49765	22.8	0.99456233803651373	0.65530	0.29579	0.23859	N	AEFDBHCIJ	0.207941	0.33407	N	-0.312400794245335	0.28676	1.58369	-0.410695354937189	0.24684	1.353051	0.999999999999386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.55	2.66	0.30672	0.682000	0.25015	3.596000	0.39206	0.520000	0.23804	0.000000	0.06391	0.998000	0.33993	0.266000	0.23669	0.1096:0.0:0.8904:0.0	9.662	0.39127	616	0.66398	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002556	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.015267	0.05	820.43	34	chr2	100321601	.	G	A	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=373;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=2.27;SOR=0.42	GT:AD:DP:GQ:PL	0/1:32,37:69:99:832,0,691	9	0	1	0
chr2	102225970	102225970	T	C	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon6:c.T638C:p.I213T,IL1RL2:NM_001351447:exon7:c.T710C:p.I237T,IL1RL2:NM_001351449:exon8:c.T611C:p.I204T,IL1RL2:NM_001351450:exon8:c.T611C:p.I204T,IL1RL2:NM_001351446:exon9:c.T1064C:p.I355T,IL1RL2:NM_003854:exon9:c.T1064C:p.I355T	.	434	1059	27	2	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00538810107876	0.0011	0.00199681	0.0028	0.0003	0.0009	0.0002	0.0023	0.0026	0.0022	0.0086	0.002652	410	154602	rs138105991	0.0024	0.0024	0.0022	0.0027	0.0095	0.0023	0.0023	0.0090	0.0088	0.0005	0.0008	0.0045	2.538e-05	0.0020	0.0095	0.0019	0.0041	0.0095	0.0019	0.0019	0.0016	0.0021	0.0095	0.0017	0.0016	0.0073	0.0066	0.0002	0.0493	0.0017	0.0055	0	0.0008	0.0034	0.0019	0.0014	0.0095	0.043	0.41364	D	0.11	0.37310	T	0.042	0.21471	B	0.037	0.23121	B	0.446521	0.12561	N	0.770486	0.999947	0.19238	N	2.105	0.58435	M	3.96	0.04014	T	-2.84	0.59873	D	0.073	0.16447	-1.0109	0.26635	T	0.012	0.04653	T	10	0.0068877935	0.00156	T	0.005388	0.13832	T	0.070	0.20419	.	.	0.119812018005	0.11559	0.44560835238578905	0.44478	0.191107692456	0.21433	0.366368353367	0.20309	T	0.49669	0.81888	T	-0.655671	0.00067	T	-0.708064	0.05396	T	0.00482568533609228	0.00052	T	0.639636	0.25265	T	0.13073404	0.30496	0.12908597	0.31044	0.13073404	0.30495	0.12908597	0.31044	-7.57	0.63471	D	.	.	0.148	0.32661	B	.;.	.;.	1.087230	0.14705	11.26	0.87444102512065358	0.17231	0.20531	0.21075	N	AEFBI	0.052819	0.09463	N	-0.592351730009413	0.19175	1.00154	-0.604177513899027	0.19385	1.039832	0.99971037908045	0.42101	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.74	0.23636	1.492000	0.35203	1.787000	0.28766	0.665000	0.62972	0.422000	0.26346	0.709000	0.26280	0.008000	0.08271	0.0:0.2922:0.0:0.7078	9.612	0.38835	817	0.41665	.;.	.	.	.	.	.	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	0.006042	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	1092.43	35	chr2	102225970	.	T	C	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.96;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.506;SOR=0.653	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1104,0,829	9	0	1	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T,IL1RL2:NM_001351447:exon9:c.G1057A:p.A353T,IL1RL2:NM_001351449:exon10:c.G958A:p.A320T,IL1RL2:NM_001351450:exon10:c.G958A:p.A320T,IL1RL2:NM_001351446:exon11:c.G1411A:p.A471T,IL1RL2:NM_003854:exon11:c.G1411A:p.A471T	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) 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	0.024673	0.010101	0.021739	0.049708	0.000000	0.025862	0.012195	0.049242	0.1	3886.14	36	chr2	102235010	.	G	A	3886.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.24;DP=586;ExcessHet=0.2348;FS=2.555;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.35;SOR=0.854	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1904,0,1450	8	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	21749.2	34	chr2	108259015	.	G	*	21749.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.702;DP=1615;ExcessHet=0.3701;FS=0.589;InbreedingCoeff=0.1667;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.809;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,77:155:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:5378,2354,3127:108259008	7	1	2	0
chr2	108470596	108470596	A	G	exonic	GCC2	.	nonsynonymous SNV	GCC2:NM_181453:exon6:c.A1267G:p.N423D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00378354252875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	0	1.378e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.399	0.10517	T	0.806	0.09298	T	0.001	0.07471	B	0.001	0.04355	B	0.353981	0.13772	N	0.723899	0.991654	0.24002	N	1.63	0.41750	L	1.51	0.30937	T	-0.96	0.25551	N	0.128	0.12198	-1.0296	0.20583	T	0.052	0.21960	T	10	0.06075105	0.07510	T	0.003784	0.08806	T	0.107	0.30369	0.059	0.00196	0.374255764437	0.37033	0.05916898472194615	0.05856	0.061691340744	0.06874	0.338149189949	0.16161	T	0.025802	0.19224	T	-0.299166	0.08740	T	-0.667507	0.07769	T	0.0824060440063477	0.10292	T	0.544146	0.18565	T	0.060886085	0.12545	0.07191101	0.15453	0.060886085	0.12544	0.07191101	0.15452	-3.776	0.20446	T	.	.	0.077	0.06710	B	.;.	.;.	1.771711	0.22528	15.66	0.9790909177471423	0.36801	0.92823	0.56633	D	AEFGBI	0.133601	0.25332	N	-0.359702732474902	0.26918	1.472814	-0.209571020128718	0.31191	1.762932	0.499229228192823	0.20928	0.732398	0.92422	0	0.724815	0.89359	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.93	2.37	0.28337	2.248000	0.42812	6.068000	0.53231	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.7878:0.0:0.2122:0.0	9.202	0.36424	904	0.23766	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1145.43	35	chr2	108470596	.	A	G	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1;SOR=0.737	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1157,0,1123	9	0	1	0
chr2	108873469	108873469	T	C	exonic	CCDC138	.	nonsynonymous SNV	CCDC138:NM_001351561:exon10:c.T1210C:p.W404R,CCDC138:NM_001351559:exon11:c.T1225C:p.W409R,CCDC138:NM_001351545:exon13:c.T1697C:p.L566P,CCDC138:NM_001351548:exon13:c.T1586C:p.L529P,CCDC138:NM_001351549:exon13:c.T1535C:p.L512P,CCDC138:NM_001351551:exon13:c.T1532C:p.L511P,CCDC138:NM_001303106:exon14:c.T764C:p.L255P,CCDC138:NM_001351544:exon14:c.T1730C:p.L577P,CCDC138:NM_001351565:exon14:c.T764C:p.L255P,CCDC138:NM_144978:exon14:c.T1712C:p.L571P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0547989642254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.961	0.70482	D	0.000740	0.42129	D	0.097779	1	0.81001	D	2.36	0.67893	M	0.4	0.57261	T	-5.59	0.86527	D	0.915	0.91736	-0.3662	0.73077	T	0.316	0.68540	T	10	0.87628615	0.86920	D	0.054799	0.65991	D	0.486	0.77464	0.635	0.77142	0.914791411924	0.91393	0.7841847546220618	0.78369	0.363397901793	0.37968	0.625749766827	0.56542	T	0.305119	0.67739	T	0.244831	0.78116	D	0.113907	0.77831	D	0.994522929191589	0.85865	D	0.793521	0.43550	T	0.8898065	0.90490	0.89176077	0.94392	0.8898065	0.90492	0.89176077	0.94392	-11.9	0.84360	D	.	.	0.988	0.93093	P	.	.	5.156200	0.86381	28.9	0.9990049235973163	0.97275	0.98564	0.84144	D	AEFBI	0.839298	0.75672	D	0.670510536604297	0.77702	6.725617	0.628098570297703	0.76988	6.593771	0.999423546134397	0.39630	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.458000	0.66416	5.982000	0.52185	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.248	0.65544	888	0.27761	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	220.43	14	chr2	108873469	.	T	C	220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.784;DP=228;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.217;SOR=0.534	GT:AD:DP:GQ:PL	0/1:6,10:16:99:232,0,137	9	0	1	0
chr2	134458122	134458122	G	A	exonic	TMEM163	.	nonsynonymous SNV	TMEM163:NM_030923:exon7:c.C719T:p.A240V	.	.	.	.	.	.	.	.	.	.	.	3616931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0425562742672	0.0002	0.000199681	7.423e-05	0.0002	8.645e-05	0	0	1.5e-05	0	0.0003	6.47e-05	10	154602	rs376678158	4.583e-05	4.583e-05	2.995e-05	6.188e-05	0.0004	3.661e-05	3.347e-05	0.0003	0.0002	0.0003	0.0001	0	0	0	0	1.439e-05	4.967e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.7e-05	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0	0	0	0.0005	0.0004	0.04	0.42199	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.09	0.64086	T	-0.72	0.20358	N	0.913	0.91505	-0.3528	0.73472	T	0.380	0.73714	T	10	0.6817863	0.71323	D	0.042556	0.60525	D	0.347	0.66863	.	.	0.802656859518	0.80081	0.8980539682984727	0.89776	0.828887650308	0.67540	0.674577474594	0.63492	T	0.031976	0.22281	T	-0.0791591	0.39850	T	0.0172667	0.71454	D	0.115872740338688	0.14021	T	0.949705	0.80662	D	0.19770782	0.41646	0.18002926	0.40776	0.19770782	0.41645	0.18002926	0.40775	-12.601	0.87655	D	.	.	0.798	0.77199	P	.	.	4.769089	0.77177	26.7	0.99780146979496398	0.86693	0.94407	0.61067	D	AEFDBHCI	0.917766	0.88585	D	0.505540396373447	0.67415	5.078857	0.416801991763211	0.62610	4.479473	1.0	0.98316	0.653281	0.48532	0	0.694456	0.67091	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	4.79	4.79	0.60909	9.968000	0.99102	11.740000	0.95175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0:1.0:0.0	17.445	0.87468	923	0.18507	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1728.43	33	chr2	134458122	.	G	A	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.908;DP=504;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.077;SOR=0.556	GT:AD:DP:GQ:PL	0/1:103,81:184:99:1740,0,2409	9	0	1	0
chr2	147952460	147952460	A	C	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_001190881:exon5:c.T249G:p.H83Q,ORC4:NM_001190882:exon7:c.T279G:p.H93Q,ORC4:NM_002552:exon8:c.T501G:p.H167Q,ORC4:NM_181741:exon8:c.T501G:p.H167Q,ORC4:NM_181742:exon8:c.T501G:p.H167Q,ORC4:NM_001190879:exon9:c.T501G:p.H167Q,ORC4:NM_001374272:exon9:c.T249G:p.H83Q,ORC4:NM_001374270:exon10:c.T501G:p.H167Q	Meier-Gorlin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.158635835134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.841e-07	1.364e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.032	0.53426	D	0.037	0.20876	B	0.147	0.34014	B	0.000001	0.84330	N	0.096295	0.999268	0.81001	D	2.505	0.72935	M	-3.04	0.92357	D	-6.87	0.93175	D	0.349	0.39861	-0.2499	0.76362	T	0.610	0.86187	D	10	0.34211516	0.51248	T	0.158636	0.83899	D	0.152	0.39956	0.404	0.43573	0.924435120398	0.92367	0.5339902043326814	0.53324	0.326412114761	0.34790	0.579629421234	0.50034	T	0.166067	0.51215	T	0.0448615	0.57680	T	-0.173336	0.57138	T	0.884059488773346	0.53427	D	0.794321	0.44511	T	0.74107856	0.80354	0.5248352	0.72547	0.74107856	0.80356	0.5248352	0.72547	-8.183	0.63324	D	0.601928977617784	0.66900	0.353	0.56767	A	.;.;.;.;.	.;.;.;.;.	3.298200	0.45264	22.1	0.95968306843252982	0.28320	0.84634	0.43718	D	AEBCI	0.358904	0.44942	N	-0.353789333699048	0.27132	1.486234	-0.211953562680255	0.31105	1.757323	2.84094382655772E-4	0.06355	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	3.46	0.38718	2.514000	0.45164	2.869000	0.35254	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.6236:0.1515:0.2249:0.0	5.176	0.14460	913	0.21160	.;AAA+ ATPase domain;.;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.2	34	chr2	147952460	.	A	C	46.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.138;DP=370;ExcessHet=0.2348;FS=114.678;InbreedingCoeff=-0.1141;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=-0.125;SOR=6.932	GT:AD:DP:GQ:PL	0/1:34,12:46:39:39,0,425	8	0	2	0
chr2	156327864	156327864	A	T	exonic	NR4A2	.	nonsynonymous SNV	NR4A2:NM_006186:exon5:c.T1145A:p.L382Q,NR4A2:NM_173173:exon5:c.T956A:p.L319Q	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0669416947931	7.7e-05	.	2.936e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs145347057	4.884e-06	5.472e-06	4.147e-06	5.633e-06	6.084e-05	2.03e-06	1.31e-06	2.377e-05	1.49e-05	0	0	0	0	0	0	9.117e-07	1.685e-05	6.084e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.76473	D	0.997	0.70673	D	0.921	0.65636	D	0.827292	0.09133	N	0.932411	1	0.81001	D	2.08	0.57402	M	0.62	0.53302	T	-5.29	0.84315	D	0.867	0.95021	-0.6166	0.64130	T	0.331	0.69877	T	10	0.77083075	0.77069	D	0.066942	0.70022	D	0.417	0.72705	.	.	0.701869943781	0.69928	0.8364887684957731	0.83608	1.13984766701	0.78886	0.803692102432	0.82527	D	0.845253	0.96427	D	0.174906	0.71573	D	0.0134641	0.71206	D	0.995318055152893	0.87204	D	0.972403	0.89999	D	0.9003776	0.91417	0.82592857	0.89920	0.9003776	0.91418	0.82592857	0.89921	-11.615	0.82925	D	.	.	0.878	0.81367	P	.;.;.;.;.	.;.;.;.;.	5.431685	0.90826	31	0.99352837051529219	0.60656	0.97586	0.75724	D	AEFDBCI	0.900872	0.84690	D	0.860385132916469	0.89692	10.07698	0.861257987003779	0.93657	12.18955	0.999999999999991	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.664235	0.64389	0	.	.	6.03	6.03	0.97798	8.958000	0.92950	11.247000	0.90615	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.227	0.82122	770	0.49152	Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding 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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	360.43	33	chr2	156327864	.	A	T	360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.471;DP=346;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.811;SOR=0.46	GT:AD:DP:GQ:PL	0/1:28,18:46:99:372,0,744	9	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.15	2070.45	39	chr2	157799450	.	G	C	2070.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.947;DP=484;ExcessHet=0.7463;FS=1.701;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.03;SOR=0.568	GT:AD:DP:GQ:PL	0/1:32,24:56:99:544,0,777	7	0	3	0
chr2	164695662	164695662	T	C	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.A1730G:p.K577R,COBLL1:NM_001278460:exon12:c.A1868G:p.K623R,COBLL1:NM_001365670:exon12:c.A1865G:p.K622R,COBLL1:NM_001365672:exon12:c.A1730G:p.K577R,COBLL1:NM_001365673:exon12:c.A1730G:p.K577R,COBLL1:NM_014900:exon12:c.A1844G:p.K615R,COBLL1:NM_001365671:exon13:c.A1907G:p.K636R,COBLL1:NM_001365674:exon13:c.A1769G:p.K590R,COBLL1:NM_001365675:exon13:c.A1769G:p.K590R,COBLL1:NM_001278458:exon15:c.A2045G:p.K682R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00586525363405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.496	0.15109	T	0.072	0.23997	B	0.031	0.21939	B	0.127411	0.18768	N	0.569031	1	0.08975	N	1.435	0.35949	L	.	.	.	-0.14	0.12099	N	0.063	0.05287	-1.0449	0.15854	T	0.046	0.19879	T	9	0.038332254	0.02245	T	0.005865	0.15251	T	0.019	0.03383	0.14	0.04369	0.276065633971	0.27208	0.07125550493659911	0.07062	0.045035419112	0.04870	0.256193101406	0.04447	T	0.001002	0.04708	T	-0.309096	0.07828	T	-0.681772	0.06876	T	0.0583060775199121	0.06898	T	0.729627	0.34527	T	0.017412927	0.00271	0.02032806	0.00130	0.017412927	0.00271	0.02032806	0.00130	-4.781	0.34369	T	.	.	0.093	0.14155	B	.;.;.;.	.;.;.;.	-0.014280	0.04185	1.014	0.63485899417703362	0.07236	0.04726	0.10422	N	AEFBI	0.113965	0.22466	N	-1.10136577650457	0.06619	0.3052204	-1.10171317567768	0.07667	0.3738704	0.999376317919198	0.39355	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.06	0.193	0.14419	0.109000	0.15252	2.198000	0.31263	-0.155000	0.11859	0.015000	0.19116	0.999000	0.35428	0.005000	0.06747	0.1146:0.2337:0.2369:0.4148	1.465	0.02258	877	0.30165	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2084.43	55	chr2	164695662	.	T	C	2084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=578;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.854;SOR=0.716	GT:AD:DP:GQ:PL	0/1:111,82:193:99:2096,0,2811	9	0	1	0
chr2	166305834	166305834	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon5:c.G554A:p.R185H,SCN9A:NM_002977:exon5:c.G554A:p.R185H	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	2	1519	1	0	0	1	0.000329056	.	.	.	167457	Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|not_provided|not_specified|Small_fiber_neuropathy|Primary_erythromelalgia|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800207,MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.888	.	0.0057	0.00638978	0.0033	0.0145	0.0009	0.0043	0.0021	0.0028	0	0.0006	0.0033505	518	154602	rs73969684	0.0021	0.0021	0.0022	0.0020	0.0130	0.0020	0.0020	0.0120	0.0116	0.0130	0.0011	0	0.0022	0.0027	0.0005	0.0019	0.0034	0.0007	0.0054	0.0054	0.0056	0.0052	0.0138	0.0051	0.0050	0.0129	0.0125	0.0138	0.0132	0.0017	0	0.0056	0.0022	0	0.0022	0.0024	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000134	0.49741	N	0.089808	0.999919	0.51042	D	3.83	0.95627	H	-5.22	0.98879	D	-4.85	0.81107	D	0.922	0.94786	0.682	0.92955	D	0.960	0.98707	D	10	0.01727277	0.00368	T	.	.	.	0.888	0.96762	.	.	0.923945200506	0.92317	0.9083131135529481	0.90804	0.623418994379	0.56572	0.772302865982	0.77770	T	0.951176	0.99298	D	-0.073912	0.40699	T	0.133378	0.79113	D	0.107933109346734	0.13207	T	0.979802	0.93081	D	0.8339059	0.86176	0.7171564	0.83304	0.74252474	0.80438	0.6797947	0.81188	-13.13	0.90189	D	0.8808277740061006	0.93862	0.378	0.69620	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.147595	0.86207	28.8	0.99958598422774381	0.99990	0.98107	0.79657	D	AEFI	0.809329	0.73286	D	0.891591483733262	0.91340	10.83502	0.799736068600589	0.89775	10.11606	0.999935946766929	0.46732	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.96	5.09	0.68647	6.156000	0.71637	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.9327:0.0:0.0673	15.192	0.72739	582	0.69555	.;Ion transport domain;.;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	950.43	39	chr2	166305834	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.095;SOR=0.592	GT:AD:DP:GQ:PL	0/1:34,39:73:99:962,0,743	9	0	1	0
chr2	168824689	168824689	A	C	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001039724:exon3:c.A169C:p.S57R,NOSTRIN:NM_001171631:exon7:c.A169C:p.S57R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00962018641572	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0022	0.0003	0.0002523	39	154602	rs199677615	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0007	0	0.0001	0	0	3.763e-05	0.0019	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.405e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0005	0.0004	0.048	0.40068	D	0.073	0.43159	T	0.491	0.36960	P	0.326	0.41929	B	0.011742	0.29415	N	0.417437	0.999998	0.81001	D	2.125	0.59049	M	2.29	0.17113	T	-1.41	0.34795	N	0.235	0.28498	-1.0749	0.08369	T	0.036	0.15422	T	10	0.080076665	0.12956	T	0.00962	0.25153	T	0.078	0.22779	0.524	0.62818	0.28492961333	0.28089	0.32254255270305715	0.32167	0.293306786862	0.31753	0.355821669102	0.18775	T	0.003337	0.02738	T	-0.443582	0.01232	T	-0.54901	0.17420	T	0.0814535970985223	0.10172	T	0.787421	0.45238	T	0.16103226	0.36085	0.2347877	0.48704	0.16103226	0.36085	0.2347877	0.48703	-7.222	0.55639	T	.	.	0.440	0.61715	A	.;.;.	.;.;.	2.559985	0.33151	19.26	0.59191360947804417	0.06166	0.91660	0.53993	D	AEFBI	0.621947	0.60645	D	-0.243901164976922	0.31348	1.756792	-0.169334880680425	0.32671	1.861107	0.999656529792383	0.41424	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.18	4.02	0.45968	2.498000	0.45023	6.110000	0.53654	0.756000	0.94297	0.964000	0.33853	0.998000	0.33993	0.990000	0.65344	0.9129:0.0:0.0871:0.0	9.220	0.36532	777	0.48198	.;.;FCH domain|F-BAR 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	270.43	34	chr2	168824689	.	A	C	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.671;DP=409;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=1.09;SOR=0.644	GT:AD:DP:GQ:PL	0/1:42,19:61:99:282,0,1094	9	0	1	0
chr2	169157424	169157424	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11966A:p.C3989Y	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3716647	Donnai-Barrow_syndrome	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.241548340331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	-4.52	0.97693	D	-9.97	0.98788	D	0.978	0.98840	1.092	0.99320	D	0.933	0.97809	D	10	0.8833375	0.87651	D	0.241548	0.88722	D	0.806	0.93699	0.489	0.57415	0.913727486721	0.91286	0.9963272788796702	0.99630	2.21030123888	0.95757	0.654697299004	0.60652	T	0.59122	0.86761	D	0.547699	0.95668	D	0.548955	0.95604	D	0.999599039554596	0.98068	D	0.99961	0.99838	D	0.95857286	0.97136	0.94939035	0.98363	0.95857286	0.97136	0.94939035	0.98363	-13.597	0.91673	D	.	.	0.987	0.92711	P	.;.	.;.	4.337275	0.66507	25.0	0.99730655281768066	0.82761	0.98691	0.85635	D	AEFBI	0.891640	0.82779	D	0.698004536028874	0.79502	7.091025	0.712999882364409	0.83367	8.00278	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.455000	0.79783	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	90.43	41	chr2	169157424	.	C	T	90.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.296;DP=345;ExcessHet=0;FS=16.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=-0.142;SOR=3.229	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,4:26:99:0|1:169157424_C_T:102,0,889:169157424	9	0	1	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	93.16	33	chr2	169157427	.	A	G	93.16	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.279;DP=335;ExcessHet=0;FS=16.561;InbreedingCoeff=-0.1708;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=-0.116;SOR=3.229	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,4:26:99:0|1:169157424_C_T:102,0,889:169157424	6	0	1	3
chr2	169157429	169157437	AAATCCTCC	-	exonic	LRP2	.	nonframeshift deletion	LRP2:NM_004525:exon64:c.11953_11961del:p.G3985_F3987del	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	87.39	43	chr2	169157428	.	TAAATCCTCC	T	87.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.85;DP=458;ExcessHet=0;FS=17.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=0;SOR=3.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,4:27:99:0|1:169157424_C_T:99,0,931:169157424	9	0	1	0
chr2	169157437	169157437	-	GGGGGGTGG	exonic	LRP2	.	nonframeshift insertion	LRP2:NM_004525:exon64:c.11952_11953insCCACCCCCC:p.E3984_G3985insPPP	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	100.01	28	chr2	169157437	.	C	CGGGGGGTGG	100.01	.	AC=1;AF=0.056;AN=18;DP=250;ExcessHet=0;FS=21.021;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=0.487;SOR=3.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,4:23:99:0|1:169157424_C_T:111,0,786:169157424	8	0	1	1
chr2	170770929	170770929	G	T	exonic	ERICH2	.	nonsynonymous SNV	ERICH2:NM_001290030:exon1:c.G248T:p.W83L,ERICH2:NM_001290031:exon1:c.G248T:p.W83L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs986151868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0078	0.0077	0.0073	0.0264	0.0071	0.0070	0.0250	0.0245	0.0264	0	0.0025	0	0	0	0	6.083e-05	0.0055	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	72.68	1	chr2	170770929	.	G	T	72.68	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.674;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:29:78,0,29	4	0	1	5
chr2	181678581	181678581	C	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G280A:p.A94T	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.185104618644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.53072	D	0.609	0.39586	P	0.17	0.35299	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	-3.83	0.95794	D	-3.41	0.67129	D	0.482	0.51672	0.764	0.93967	D	0.839	0.94617	D	10	0.38633454	0.54568	T	0.185105	0.85791	D	0.514	0.79217	0.212	0.13066	0.973489430895	0.97320	0.29720361518298416	0.29633	0.492894575392	0.47914	0.768705010414	0.77230	T	0.778333	0.94125	D	0.243896	0.78027	D	0.112563	0.77741	D	0.981200635433197	0.73779	D	0.718228	0.33111	T	0.4986552	0.67017	0.56728184	0.74951	0.4986552	0.67017	0.56728184	0.74952	-9.882	0.73202	D	0.40084497278937786	0.49267	0.905	0.83126	P	.	.	4.524390	0.70963	25.6	0.99916718950499361	0.98449	0.02369	0.06743	N	AEFBHCI	0.962693	0.98437	D	0.568276493917839	0.71201	5.615123	0.671606235025357	0.80229	7.252605	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	7.852000	0.85247	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	132.3	34	chr2	181678581	.	C	T	132.3	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.956;DP=751;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.1538;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=2.45;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,25:116:99:0|1:181678581_C_T:141,0,2834:181678581	6	0	2	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	134.38	34	chr2	181678582	.	C	G	134.38	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.593;DP=729;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.2245;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=2.51;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,25:116:99:0|1:181678581_C_T:141,0,2834:181678581	4	0	2	4
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	443.45	47	chr2	186504215	.	G	A	443.45	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,10:19:45:.:.:45,0,100:.	4	0	4	2
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V,ICA1L:NM_001288622:exon4:c.A238G:p.I80V,ICA1L:NM_001288623:exon4:c.A238G:p.I80V,ICA1L:NM_138468:exon5:c.A238G:p.I80V	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) 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	0.016129	0.015152	0.013587	0.014620	0.000000	0.017241	0.027607	0.015152	0.05	352.43	35	chr2	202821479	.	T	C	352.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.706;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.686;SOR=0.593	GT:AD:DP:GQ:PL	0/1:17,16:33:99:364,0,368	9	0	1	0
chr2	202884286	202884286	A	C	exonic	WDR12	.	nonsynonymous SNV	WDR12:NM_001371664:exon9:c.T486G:p.F162L,WDR12:NM_018256:exon10:c.T900G:p.F300L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0122094918585	0.0005	0.000399361	0.0006	0.0002	8.645e-05	0	0	0.0004	0.0011	0.0030	0.0005563	86	154602	rs147837574	0.0006	0.0006	0.0006	0.0007	0.0027	0.0006	0.0006	0.0024	0.0023	0.0001	0.0002	0	0	1.872e-05	0.0002	0.0006	0.0006	0.0027	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	0.0002	0	0.0001	0	0	0	0	0.0007	0	0.0017	0.008	0.58626	D	0.182	0.29249	T	0.664	0.41009	P	0.373	0.43650	B	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	0.365	0.12025	N	0.28	0.59037	T	-4.35	0.76900	D	0.834	0.82964	-1.0486	0.14790	T	0.110	0.39675	T	10	0.06545541	0.08833	T	0.012209	0.30578	T	0.280	0.59740	0.484	0.56621	0.699443158265	0.69684	0.4885894034699096	0.48778	0.120734834091	0.13598	0.845123112202	0.88876	D	0.150941	0.49065	T	-0.19783	0.21117	T	-0.0603105	0.66310	T	0.0486318625045405	0.05257	T	0.913309	0.69109	D	0.568922	0.71001	0.47388533	0.69506	0.568922	0.71002	0.47388533	0.69507	-9.55	0.71170	D	.	.	0.989	0.93356	P	.	.	3.836355	0.55490	23.6	0.99139938576630637	0.53491	0.94073	0.60031	D	AEDGBI	0.639303	0.61741	D	-0.0405763841153613	0.40024	2.369959	0.0891471637106914	0.43999	2.690389	0.124591792748032	0.16961	0.743674	0.98306	0	0.724815	0.89359	0	0.724815	0.87919	0	0.584449	0.35598	0	.	.	5.74	4.56	0.55644	2.770000	0.47346	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8586:0.0:0.1414:0.0	9.201	0.36422	507	0.75469	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1557.43	36	chr2	202884286	.	A	C	1557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-2.224;SOR=0.694	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1569,0,1618	9	0	1	0
chr2	202967049	202967049	G	A	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon7:c.G640A:p.E214K,CARF:NM_001352676:exon7:c.G346A:p.E116K,CARF:NM_001282910:exon8:c.G676A:p.E226K,CARF:NM_001322429:exon8:c.G868A:p.E290K,CARF:NM_001352677:exon8:c.G598A:p.E200K,CARF:NM_001104586:exon9:c.G904A:p.E302K,CARF:NM_001282911:exon9:c.G676A:p.E226K,CARF:NM_001322428:exon9:c.G904A:p.E302K,CARF:NM_001322427:exon10:c.G904A:p.E302K,CARF:NM_024744:exon10:c.G904A:p.E302K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.00416946564873	.	0.000199681	8.282e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs201904518	3.421e-06	3.42e-06	1.361e-06	5.501e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	1.313e-05	1.313e-05	0	2.686e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.0	0.92824	D	0.016	0.17332	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999988	0.81001	D	1.645	0.42016	L	.	.	.	-0.89	0.24026	N	0.827	0.82257	-0.8849	0.49365	T	0.198	0.55343	T	9	0.2931259	0.46888	T	0.004169	0.10026	T	0.346	0.66769	.	.	0.311691414656	0.30774	0.5454094215303459	0.54466	0.231032687938	0.25652	0.69238960743	0.66049	T	0.194056	0.54971	T	0.282423	0.81522	D	0.264759	0.86317	D	0.453960210084915	0.30943	T	0.925907	0.72722	D	0.3833978	0.59562	0.32327121	0.58260	0.3833978	0.59562	0.32327121	0.58260	-8.3	0.65155	D	.	.	0.247	0.48209	B	.;.;.;.;.	.;.;.;.;.	4.394433	0.67843	25.2	0.99741593998954514	0.83555	0.97591	0.75757	D	AEFDGBI	0.892305	0.82910	D	0.188076034654368	0.50626	3.250845	0.398218376464527	0.61456	4.345796	0.999999978975872	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	7.703000	0.83561	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.381	0.94526	468	0.78227	Calcium-responsive transcription factor;.;Calcium-responsive transcription factor;.;Calcium-responsive transcription factor	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	476.43	33	chr2	202967049	.	G	A	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=2.14;SOR=0.765	GT:AD:DP:GQ:PL	0/1:33,23:56:99:488,0,763	9	0	1	0
chr2	219556657	219556657	G	A	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173431:exon13:c.C4133T:p.T1378M,OBSL1:NM_015311:exon13:c.C4133T:p.T1378M	3-M syndrome 2	0	1515	7	0	0	7	0.00230491	.	.	.	883825	not_specified|not_provided|3M_syndrome_2|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.0960648053622	0.0002	.	0.0002	0	8.691e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs200449388	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	2.99e-05	8.949e-05	0	0	0	0.0007	0.0002	0.0002	1.16e-05	7.885e-05	7.879e-05	7.708e-05	8.071e-05	0.0002	4.497e-05	3.512e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0	0.199	0.31383	T	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.974154	0.39081	D	2.075	0.57047	M	-0.37	0.68892	T	-3.75	0.71157	D	0.636	0.70878	0.132	0.84743	D	0.473	0.79774	T	9	0.7189617	0.73534	D	0.096065	0.76538	D	0.400	0.71401	.	.	0.785868056097	0.78388	0.5522484339786173	0.55150	0.685853033884	0.60304	0.460486531258	0.33377	T	0.184103	0.53665	T	-0.179842	0.23758	T	-0.20262	0.54398	T	0.247522307247161	0.22762	T	0.865313	0.57527	D	0.12888269	0.30117	0.17901738	0.40608	0.12888269	0.30117	0.17901738	0.40607	-6.671	0.51592	T	.	.	0.134	0.31100	B	.;.;.	.;.;.	4.016177	0.59280	24.1	0.99760876874920346	0.85011	0.77111	0.37879	D	AEFDBCI	0.434081	0.49528	N	0.405838217624961	0.61743	4.379576	0.285711085852846	0.54705	3.634642	0.999988284242379	0.51787	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.16	4.16	0.48138	2.489000	0.44944	5.674000	0.49268	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.923000	0.45890	0.0:0.167:0.833:0.0	12.596	0.55824	114	0.95383	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1673.43	53	chr2	219556657	.	G	A	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.694;DP=600;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=2.57;SOR=0.608	GT:AD:DP:GQ:PL	0/1:110,75:185:99:1685,0,2825	9	0	1	0
chr2	224896307	224896307	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon4:c.G386A:p.R129Q,DOCK10:NM_001363762:exon4:c.G443A:p.R148Q,DOCK10:NM_014689:exon4:c.G404A:p.R135Q	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	.	0.00179712	0.0013	0	0	0	0	0	0.0039	0.0101	0.0010479	162	154602	rs555737439	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	0	6.829e-05	0	0	0	0.0012	1.817e-05	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.819e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0081	0.089	0.32610	T	0.04	0.55759	D	0.882	0.48483	P	0.48	0.47081	P	0.000000	0.84330	D	0.000000	0.998386	0.44847	D	2.395	0.69210	M	0.97	0.42502	T	-2.25	0.50337	N	0.46	0.49692	-0.6199	0.63993	T	0.236	0.60270	T	10	0.006584078	0.00149	T	.	.	.	0.150	0.39571	.	.	0.615590475704	0.61248	0.33974417218772685	0.33887	0.480971576196	0.47103	0.477582097054	0.35723	T	0.159596	0.50310	T	-0.289141	0.09722	T	-0.182134	0.56325	T	0.0812096572146218	0.10142	T	0.999654	0.99877	D	0.3183239	0.54498	0.24900152	0.50462	0.3183239	0.54498	0.24900152	0.50461	-2.483	0.06657	T	.	.	0.093	0.19639	B	.;.;.	.;.;.	4.626981	0.73532	26.0	0.99941825027994591	0.99824	0.98064	0.79293	D	AEFBI	0.749795	0.69112	D	0.679657539851928	0.78300	6.843719	0.686688713095577	0.81367	7.510121	0.999999999997269	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	6.851000	0.75222	5.953000	0.51684	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.201	0.93697	867	0.32089	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	167.43	34	chr2	224896307	.	C	T	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=333;ExcessHet=0;FS=1.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.087;SOR=1.161	GT:AD:DP:GQ:PL	0/1:22,9:31:99:179,0,496	9	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K,CHRND:NM_001256657:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	192261	Lethal_multiple_pterygium_syndrome|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	604.43	38	chr2	232526593	.	C	G	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.868;DP=380;ExcessHet=0;FS=5.494;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.084;SOR=1.236	GT:AD:DP:GQ:PL	0/1:28,27:55:99:616,0,719	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,105:105:99:.:.:4400,317,0:.	4	2	4	0
chr2	233551416	233551416	G	A	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001365479:exon7:c.C797T:p.T266I,USP40:NM_001382295:exon7:c.C797T:p.T266I,USP40:NM_001382296:exon7:c.C797T:p.T266I,USP40:NM_001382297:exon7:c.C797T:p.T266I,USP40:NM_001382299:exon7:c.C797T:p.T266I,USP40:NM_001382300:exon7:c.C797T:p.T266I,USP40:NM_001382301:exon7:c.C797T:p.T266I,USP40:NM_018218:exon7:c.C797T:p.T266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0211454813187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.991	0.64070	D	0.931	0.66596	D	0.021598	0.26803	N	0.451624	0.802056	0.34524	D	2.48	0.72069	M	1.48	0.31731	T	-3.2	0.64710	D	0.744	0.74918	-0.4265	0.71180	T	0.233	0.59928	T	10	0.7485858	0.75469	D	0.021145	0.43873	T	0.352	0.67326	0.523	0.62668	0.585382094262	0.58212	0.2674321121739993	0.26656	0.173741090173	0.19561	0.495058357716	0.38140	T	0.013729	0.11817	T	-0.0713418	0.41112	T	-0.340254	0.40316	T	0.942872643470764	0.61749	D	0.89491	0.63503	D	0.13332939	0.31015	0.17038059	0.39143	0.13332939	0.31015	0.17038059	0.39142	-9.721	0.72224	D	.	.	0.142	0.34840	B	.;.;.	.;.;.	3.037286	0.40708	21.2	0.9989187869890449	0.96589	0.89378	0.49806	D	AEFBI	0.321575	0.42433	N	0.601830131885395	0.73291	5.942076	0.506147270835235	0.68402	5.215241	0.999999948911874	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	3.659000	0.54227	7.466000	0.59102	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	19.660	0.95860	773	0.48803	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	239.82	35	chr2	233551416	.	G	A	239.82	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.143;DP=467;ExcessHet=1.5895;FS=202.816;InbreedingCoeff=-0.2375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.482;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6:46:2:0|1:233551415_T_C:2,0,1438:233551415	6	0	4	0
chr2	236465527	236465527	G	A	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C904T:p.R302W,IQCA1:NM_001270585:exon6:c.C925T:p.R309W,IQCA1:NM_024726:exon6:c.C904T:p.R302W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	.	0.0053	0.00678914	0.0017	0.0189	0.0010	0.0001	0	0.0001	0	0	0.0016882	261	154602	rs149890791	0.0006	0.0006	0.0006	0.0005	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0014	0	0	0	0.0007	6.836e-05	0.0008	3.478e-05	0.0056	0.0056	0.0057	0.0054	0.0190	0.0052	0.0051	0.0179	0.0175	0.0190	0	0.0020	0	0	0	0.0102	0.0001	0.0057	0.0002	0.013	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000063	0.52346	D	0.000000	0.99974	0.48716	D	.	.	.	-3.53	0.95282	D	-5.53	0.94566	D	0.758	0.76666	0.740	0.93675	D	0.894	0.96482	D	10	0.014012247	0.00295	T	.	.	.	0.735	0.90764	.	.	0.793059094206	0.79113	0.7678092044107081	0.76729	0.43110305208	0.43331	0.442381739616	0.30902	T	0.343379	0.71203	T	-0.113737	0.34151	T	0.0787853	0.75496	D	0.0492201385559745	0.05363	T	0.970803	0.92190	D	0.7261472	0.79506	0.58131534	0.75731	0.7261472	0.79507	0.58131534	0.75732	-11.133	0.81521	D	.	.	0.351	0.61628	A	.;.;.	.;.;.	4.357996	0.66997	25.0	0.99916367465502232	0.98449	0.86013	0.45217	D	AEFBI	0.499757	0.53330	N	0.628764261996742	0.74999	6.22944	0.528662200570637	0.69926	5.430664	0.0407379934399433	0.14453	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.43	5.43	0.79006	1.991000	0.40348	7.111000	0.57566	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.0:0.862:0.138	15.600	0.76366	988	0.01987	.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	913.43	33	chr2	236465527	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.634;DP=410;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.687;SOR=0.883	GT:AD:DP:GQ:PL	0/1:56,41:97:99:925,0,1289	9	0	1	0
chr2	240934338	240934338	C	G	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon12:c.C1654G:p.R552G	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00738818	0.0015	0.0212	0.0035	0	0	0.0002	0	0	0.0005757	89	154602	rs141564189	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0238	0.0232	0.0253	0.0015	0	0	0	0.0022	3.615e-05	0.0017	7.583e-05	0.0067	0.0067	0.0072	0.0062	0.0228	0.0064	0.0062	0.0216	0.0211	0.0228	0	0.0032	0	0	0	0	0.0001	0.0066	0	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.37613	-1.0172	0.24625	T	0.042	0.17869	T	5	0.004887879	0.00104	T	.	.	.	.	.	.	.	0.388970301349	0.38507	0.0706335361650638	0.07000	.	.	.	.	.	0.024569	0.18538	T	-0.539977	0.00335	T	-0.528819	0.19404	T	0.00978569450253716	0.00129	T	.	.	.	0.1669232	0.37058	0.19602239	0.43311	0.1669232	0.37057	0.19602239	0.43310	-7.873	0.60201	D	.	.	0.166	0.36633	B	.	.	3.545676	0.49816	22.8	0.99481528005632114	0.66904	0.04807	0.10528	N	AEFDBI	0.111228	0.22029	N	-0.210406427757895	0.32706	1.847436	-0.268263925983629	0.29151	1.630896	0.566753638158859	0.21459	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.29	2.22	0.27116	-0.101000	0.10943	3.056000	0.36140	0.549000	0.26987	0.000000	0.06391	0.139000	0.23074	0.561000	0.30436	0.174:0.5722:0.1499:0.1038	3.702	0.07916	970	0.06235	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	656.43	35	chr2	240934338	.	C	G	656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.332;DP=386;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.64;SOR=0.906	GT:AD:DP:GQ:PL	0/1:34,31:65:99:668,0,752	9	0	1	0
chr2	240935551	240935551	G	A	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.G2132A:p.G711E	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00758786	0.0070	0.0479	0	0	0	0	0	0	0.0006015	93	154602	rs187987650	0.0007	0.0007	0.0008	0.0007	0.0291	0.0007	0.0007	0.0273	0.0266	0.0291	0.0024	0	0	0	0.0025	3.054e-05	0.0022	8.034e-05	0.0079	0.0079	0.0083	0.0074	0.0271	0.0075	0.0074	0.0258	0.0252	0.0271	0	0.0033	0	0	0	0	0.0001	0.0076	0	.	.	.	0.948	0.02632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01274	-0.9231	0.45126	T	0.067	0.27434	T	6	0.0032262504	0.00055	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.06367682268523439	0.06306	.	.	.	.	.	0.011	0.09944	T	-0.576538	0.00202	T	-0.579303	0.14607	T	0.00425357990189368	0.00045	T	.	.	.	0.07220167	0.16044	0.12166434	0.29353	0.07220167	0.16043	0.12166434	0.29353	-5.473	0.41615	T	.	.	0.103	0.18580	B	.	.	0.060242	0.04712	1.349	0.62452192584207422	0.06966	0.01418	0.04786	N	AEFDBI	0.041142	0.06216	N	-1.07567293225804	0.07093	0.3285216	-1.23648199386384	0.05335	0.2539085	0.640797087268103	0.22052	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-2.8	0.05477	-0.284000	0.08456	-0.894000	0.07016	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4435:0.0:0.5565:0.0	11.197	0.47949	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	515.43	42	chr2	240935551	.	G	A	515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=356;ExcessHet=0;FS=1.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.043;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,19:30:99:1|0:240935547_C_A:527,0,304:240935547	9	0	1	0
chr2	241137162	241137162	C	T	exonic	PASK	.	nonsynonymous SNV	PASK:NM_001252119:exon7:c.G979A:p.G327S,PASK:NM_001252122:exon7:c.G874A:p.G292S,PASK:NM_001252124:exon7:c.G979A:p.G327S,PASK:NM_015148:exon7:c.G979A:p.G327S,PASK:NM_001252120:exon8:c.G979A:p.G327S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00547736771046	.	.	8.249e-06	0	8.648e-05	0	0	0	0	0	6.5e-06	1	154602	rs748350976	5.477e-06	6.157e-06	5.45e-06	5.504e-06	2.236e-05	2.36e-06	1.7e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	1.878e-05	0	3.6e-06	1.657e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.359	0.13789	T	0.994	0.02365	T	0.002	0.09854	B	0.002	0.08700	B	0.953409	0.08272	N	0.974058	1	0.08975	N	0.22	0.09567	N	-0.35	0.68616	T	-1.58	0.42575	N	0.136	0.15187	-1.0323	0.19713	T	0.087	0.33830	T	10	0.06976211	0.10056	T	0.005477	0.14106	T	0.125	0.34456	0.274	0.22528	0.666654704183	0.66384	0.21531008252072065	0.21447	0.116427427619	0.13130	0.290299355984	0.08965	T	0.038727	0.24941	T	-0.195485	0.21457	T	-0.435712	0.29290	T	0.0529550490403445	0.06011	T	0.480052	0.14488	T	0.034236867	0.03804	0.030390615	0.01488	0.034236867	0.03803	0.030390615	0.01488	-6.238	0.48229	T	.	.	0.077	0.09578	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.059070	0.03892	0.852	0.59149910504802483	0.06157	0.01098	0.04032	N	AEFBI	0.040271	0.05968	N	-1.78835926763882	0.00574	0.02473498	-1.77787063715906	0.00833	0.03718882	0.923808479059111	0.26756	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.07	-3.3	0.04692	-0.934000	0.04063	-3.547000	0.02705	-2.448000	0.00281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1139:0.4783:0.1122:0.2956	2.829	0.05157	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	.	.	.	.	.	.	.	.	0.05	2305.43	36	chr2	241137162	.	C	T	2305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=506;ExcessHet=0;FS=2.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.269;SOR=0.519	GT:AD:DP:GQ:PL	0/1:84,101:185:99:2317,0,1849	9	0	1	0
chr2	241236665	241236665	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2755G:p.I919V,HDLBP:NM_001320965:exon21:c.A2854G:p.I952V,HDLBP:NM_001320966:exon21:c.A2854G:p.I952V,HDLBP:NM_001320967:exon21:c.A2854G:p.I952V,HDLBP:NM_005336:exon21:c.A2854G:p.I952V,HDLBP:NM_203346:exon21:c.A2854G:p.I952V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00908671794123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.989	0.02371	T	.	.	.	.	.	.	0.616103	0.05729	N	1.183550	1	0.08975	N	.	.	.	1.68	0.27184	T	0.04	0.06488	N	0.045	0.03613	-1.0616	0.11361	T	0.013	0.05225	T	10	0.025557488	0.00746	T	0.009087	0.23917	T	0.053	0.14996	0.254	0.19378	0.232442253697	0.22838	0.16049257943676634	0.15970	0.581782344896	0.53962	0.378277122974	0.22011	T	.	.	.	-0.266704	0.12126	T	-0.620878	0.11116	T	0.0290275016992813	0.01841	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.01161	B	.;.;.;.	.;.;.;.	-0.671161	0.01388	0.080	0.3619766412679532	0.02315	0.51994	0.29026	D	AEFBHCI	0.155715	0.28095	N	-1.69867640525059	0.00846	0.03661338	-1.67706388162886	0.01242	0.05597198	0.999999997852055	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	-11.4	0.00070	-0.112000	0.10762	-3.870000	0.02483	-0.133000	0.13014	0.723000	0.28851	0.000000	0.08366	0.939000	0.47918	0.2642:0.3554:0.1802:0.2002	1.843	0.02962	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	214.43	146	chr2	241236665	.	T	C	214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.417;DP=911;ExcessHet=0;FS=80.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-0.319;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,20:156:99:0|1:241236665_T_C:226,0,5464:241236665	9	0	1	0
chr2	241236668	241236668	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2752G:p.I918V,HDLBP:NM_001320965:exon21:c.A2851G:p.I951V,HDLBP:NM_001320966:exon21:c.A2851G:p.I951V,HDLBP:NM_001320967:exon21:c.A2851G:p.I951V,HDLBP:NM_005336:exon21:c.A2851G:p.I951V,HDLBP:NM_203346:exon21:c.A2851G:p.I951V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0178532886134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.27783	T	0.053	0.47336	T	.	.	.	.	.	.	0.000000	0.84330	N	0.047041	1	0.81001	D	.	.	.	1.75	0.26152	T	-0.79	0.21860	N	0.571	0.60410	-0.9863	0.33518	T	0.138	0.45508	T	10	0.4313547	0.57511	T	0.017853	0.39707	T	0.136	0.36778	0.604	0.73586	0.102598925029	0.09809	0.5707151157732244	0.56999	1.41316520035	0.85479	0.744052290916	0.73568	T	.	.	.	-0.134706	0.30738	T	-0.431273	0.29791	T	0.911651909351349	0.56729	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.58646	B	.;.;.;.	.;.;.;.	3.797468	0.54692	23.5	0.99854856080392396	0.93368	0.97069	0.72509	D	AEFBHCI	0.910516	0.86853	D	0.50443120992409	0.67350	5.070105	0.493763495683185	0.67576	5.10254	0.99999987350005	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	4.54	0.55220	7.605000	0.82070	4.997000	0.46569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0702:0.0:0.9298	11.443	0.49349	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	203.05	146	chr2	241236668	.	T	C	203.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.161;DP=1085;ExcessHet=0;FS=157.333;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.125;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:241236665_T_C:214,0,5632:241236665	8	0	1	1
chr2	241236671	241236671	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2749G:p.I917V,HDLBP:NM_001320965:exon21:c.A2848G:p.I950V,HDLBP:NM_001320966:exon21:c.A2848G:p.I950V,HDLBP:NM_001320967:exon21:c.A2848G:p.I950V,HDLBP:NM_005336:exon21:c.A2848G:p.I950V,HDLBP:NM_203346:exon21:c.A2848G:p.I950V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00708499722395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.10945	T	0.588	0.08273	T	.	.	.	.	.	.	0.000003	0.62929	D	0.103999	0.999869	0.50061	D	.	.	.	1.64	0.27822	T	-0.27	0.11366	N	0.081	0.06059	-1.0791	0.07524	T	0.060	0.25018	T	10	0.13013917	0.24765	T	0.007085	0.18759	T	0.104	0.29647	0.473	0.54859	0.0675242888579	0.06100	0.1899094645372865	0.18908	0.593740435929	0.54712	0.623579800129	0.56235	T	.	.	.	-0.189155	0.22383	T	-0.509484	0.21368	T	0.594890356063843	0.36198	D	0.852615	0.53799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01934	B	.;.;.;.	.;.;.;.	2.687292	0.35067	19.80	0.98643433493941868	0.44082	0.90408	0.51560	D	AEFBHCI	0.629641	0.61128	D	-0.121948295283556	0.36437	2.106196	0.0950216894630602	0.44297	2.714263	0.999999976924614	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.729000	0.68186	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	203.05	146	chr2	241236671	.	T	C	203.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.371;DP=1010;ExcessHet=0;FS=79.49;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.312;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:241236665_T_C:214,0,5608:241236665	8	0	1	1
chr2	241236672	241236672	G	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.C2748G:p.D916E,HDLBP:NM_001320965:exon21:c.C2847G:p.D949E,HDLBP:NM_001320966:exon21:c.C2847G:p.D949E,HDLBP:NM_001320967:exon21:c.C2847G:p.D949E,HDLBP:NM_005336:exon21:c.C2847G:p.D949E,HDLBP:NM_203346:exon21:c.C2847G:p.D949E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0822441656851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.60972	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.56	0.29602	T	-3.27	0.65512	D	0.76	0.77507	-0.1396	0.79174	T	0.434	0.77452	T	10	0.89146185	0.88489	D	0.082244	0.73858	D	0.348	0.66956	0.815	0.92992	0.467483910872	0.46373	0.8190434292431718	0.81861	1.67419762745	0.89902	0.81989210844	0.85012	D	.	.	.	0.0275763	0.55399	T	-0.198165	0.54820	T	0.991651833057404	0.81979	D	0.941306	0.78096	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.89987	P	.;.;.;.	.;.;.;.	3.829636	0.55346	23.6	0.99691110531254679	0.79909	0.94102	0.60118	D	AEFBHCI	0.554333	0.56522	D	0.268696997384686	0.54569	3.622186	0.256869466793503	0.53040	3.475147	0.999987335187779	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	3.9	0.44240	0.785000	0.26491	3.455000	0.38473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.231:0.0:0.769:0.0	10.089	0.41607	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	261.05	146	chr2	241236672	.	G	C	261.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.091;DP=970;ExcessHet=0;FS=147.996;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=-1.241;SOR=7.053	GT:AD:DP:GQ:PL	0/1:124,20:157:99:272,0,5441	8	0	1	1
chr2	241236673	241236673	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2747G:p.D916G,HDLBP:NM_001320965:exon21:c.A2846G:p.D949G,HDLBP:NM_001320966:exon21:c.A2846G:p.D949G,HDLBP:NM_001320967:exon21:c.A2846G:p.D949G,HDLBP:NM_005336:exon21:c.A2846G:p.D949G,HDLBP:NM_203346:exon21:c.A2846G:p.D949G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.130936386399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.49	0.31470	T	-5.46	0.85541	D	0.865	0.87917	0.282	0.87276	D	0.552	0.83616	D	10	0.9287051	0.92214	D	0.130936	0.81314	D	0.682	0.88348	0.8	0.91946	0.549031958697	0.54559	0.9010806488790254	0.90080	1.97621803285	0.93600	0.802616894245	0.82362	T	.	.	.	0.283332	0.81600	D	0.16921	0.81363	D	0.995734512805939	0.87972	D	0.967253	0.88140	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.89824	P	.;.;.;.	.;.;.;.	5.030743	0.83670	28.1	0.99881742751409119	0.95733	0.97792	0.77167	D	AEFBHCI	0.911618	0.87114	D	0.591434380371329	0.72640	5.83759	0.618594934155283	0.76289	6.463919	0.999999999997242	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	7.567000	0.81378	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	202.43	146	chr2	241236673	.	T	C	202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.521;DP=897;ExcessHet=0;FS=79.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.351;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:241236665_T_C:214,0,5608:241236665	9	0	1	0
chr3	12004669	12004669	C	T	exonic	SYN2	.	nonsynonymous SNV	SYN2:NM_003178:exon1:c.C118T:p.P40S,SYN2:NM_133625:exon1:c.C118T:p.P40S	.	365	1144	11	2	0	15	0.00651324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs537422953	0.0003	0.0006	0.0002	0.0003	0.0064	0.0002	0.0002	0.0043	0.0036	0	0.0002	0	0	0	0.0048	0.0002	0.0003	0.0064	0.0004	0.0004	0.0003	0.0005	0.0086	0.0003	0.0003	0.0065	0.0058	7.372e-05	0	0.0001	0	0	0	0	0.0001	0	0.0086	.	.	.	0.217	0.42614	T	0.0	0.02946	B	0.002	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.289	0.33030	.	.	.	.	.	.	.	0.0077893734	0.00177	T	.	.	.	.	.	.	.	0.469248961376	0.46551	0.4494441776383023	0.44862	.	.	0.738715410233	0.72783	T	0.181254	0.53286	T	-0.00527735	0.50923	T	-0.245357	0.50274	T	.	.	.	0.317468	0.06331	T	0.04434025	0.07070	0.10494374	0.25217	0.04434025	0.07070	0.10494374	0.25217	-4.894	0.36358	T	.	.	0.053	0.00470	B	.;.	.;.	1.430256	0.18485	13.76	0.97542403633306185	0.34523	0.06603	0.12618	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.992708679349095	0.32938	0.166803	0.03914	0	0.063554	0.01753	0	0.182457	0.04408	0	0.166187	0.04126	0	0.129931	0.25704	2.44	0.465	0.15923	1.100000	0.30637	0.762000	0.21323	-0.708000	0.03965	0.107000	0.22934	0.998000	0.33993	0.412000	0.27050	0.0:0.6053:0.2416:0.1531	4.049	0.09266	910	0.22284	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	262.43	28	chr3	12004669	.	C	T	262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.272;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.297;SOR=0.818	GT:AD:DP:GQ:PL	0/1:16,11:27:99:274,0,403	9	0	1	0
chr3	14654469	14654469	T	C	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon2:c.T86C:p.F29S	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	468	1046	8	0	0	8	0.00380952	.	.	.	1016184	not_provided|Severe_hypotonia-psychomotor_developmental_delay-strabismus-cardiac_septal_defect_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.380	0.0597530461688	0.0003	0.000199681	0.0002	0	9.537e-05	0	0	0.0004	0	0	0.0001746	27	154602	rs199752374	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	0.0003	0.0003	3.841e-05	0	0	0.0068	0.0001	0.0003	5.898e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	0.0003	0	0.0002	0.009	0.57480	D	0.131	0.64786	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.325	0.66631	M	0.81	0.48460	T	-4.15	0.81514	D	0.892	0.93723	-0.6093	0.64433	T	0.253	0.62337	T	10	0.60235536	0.66983	D	0.059753	0.67771	D	0.380	0.69780	.	.	0.683511509103	0.68081	0.40599871218794115	0.40515	0.44446215622	0.44356	0.709519147873	0.68523	T	0.451807	0.79238	T	-0.0750653	0.40512	T	-0.0424734	0.67534	D	0.823552429676056	0.48038	D	0.89811	0.64401	D	0.60520107	0.72970	0.5807731	0.75700	0.60520107	0.72971	0.5807731	0.75701	-12.074	0.85209	D	.	.	0.936	0.85548	P	.;.	.;.	5.068968	0.84532	28.3	0.99426544242896198	0.64032	0.97607	0.75865	D	AEFBI	0.754467	0.69433	D	0.669723616271088	0.77649	6.715741	0.662869573945063	0.79572	7.110908	0.9999999998184	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.605231	0.38476	0	.	.	5.38	5.38	0.77279	6.779000	0.74832	7.787000	0.68803	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.371	0.66403	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	361.43	33	chr3	14654469	.	T	C	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.556;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,14:24:99:373,0,241	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,44:181:99:.:.:247,0,4019:.	4	0	6	0
chr3	32890573	32890573	G	A	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon4:c.G1369A:p.D457N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0792771230013	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209802658	2.052e-06	2.052e-06	1.361e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.108	0.37589	T	1.0	0.90584	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-1.77	0.83660	D	-3.4	0.67014	D	0.692	0.69737	-0.0337	0.81552	T	0.587	0.85180	D	10	0.7646834	0.76612	D	0.079277	0.73198	D	0.405	0.71791	0.345	0.33950	0.787402671178	0.78543	0.8785655446018605	0.87823	1.66104356415	0.89679	0.759981334209	0.75926	T	0.469348	0.80291	T	-0.0280003	0.47707	T	-0.277997	0.47008	T	0.95093560218811	0.63447	D	0.963204	0.86318	D	0.38959444	0.60003	0.29996863	0.56030	0.38959444	0.60003	0.29996863	0.56029	-5.922	0.45622	T	.	.	0.590	0.68483	P	.	.	5.068638	0.84520	28.3	0.99862437762389866	0.94093	0.97882	0.77839	D	AEFDGBCI	0.912611	0.87347	D	0.651407844761498	0.76461	6.490609	0.693813306406944	0.81909	7.638125	1.0	0.98316	0.645754	0.44609	0	0.588015	0.36545	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	8.058000	0.89254	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.298	0.90094	845	0.36510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1912.43	34	chr3	32890573	.	G	A	1912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.354;SOR=0.701	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1924,0,1905	9	0	1	0
chr3	37020402	37020402	T	C	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001167619:exon10:c.T254C:p.V85A,MLH1:NM_001258273:exon10:c.T254C:p.V85A,MLH1:NM_001354615:exon10:c.T254C:p.V85A,MLH1:NM_001354616:exon10:c.T254C:p.V85A,MLH1:NM_001354629:exon10:c.T878C:p.V293A,MLH1:NM_000249:exon11:c.T977C:p.V326A,MLH1:NM_001167617:exon11:c.T683C:p.V228A,MLH1:NM_001167618:exon11:c.T254C:p.V85A,MLH1:NM_001258271:exon11:c.T977C:p.V326A,MLH1:NM_001354617:exon11:c.T254C:p.V85A,MLH1:NM_001354618:exon11:c.T254C:p.V85A,MLH1:NM_001354620:exon11:c.T683C:p.V228A,MLH1:NM_001354628:exon11:c.T977C:p.V326A,MLH1:NM_001354630:exon11:c.T977C:p.V326A,MLH1:NM_001258274:exon12:c.T254C:p.V85A,MLH1:NM_001354619:exon12:c.T254C:p.V85A	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	YES	51666	Hereditary_nonpolyposis_colorectal_neoplasms|Muir-Torré_syndrome|Lynch_syndrome_1|Lynch_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Colorectal_cancer,_non-polyposis|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Breast_and/or_ovarian_cancer	MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MedGen:CN221576|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.739	0.0916545602777	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0005	0.0033	0.0012	0.0004916	76	154602	rs63751049	0.0006	0.0006	0.0005	0.0007	0.0036	0.0006	0.0005	0.0024	0.0020	8.961e-05	0.0003	0	0	1.872e-05	0.0036	0.0006	0.0006	0.0014	0.0004	0.0004	0.0005	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	6.536e-05	0	0	0	0.0136	0.0007	0	0.0017	0.002	0.91255	D	0.003	0.76473	D	0.62	0.39915	P	0.347	0.42698	B	0.001785	0.37998	N	0.261625	0.999999	0.58761	D	3.35	0.91085	M	-1.69	0.82985	D	-3.89	0.72820	D	0.781	0.77789	0.592	0.91791	D	0.709	0.90006	D	10	0.41998726	0.56798	T	0.091655	0.75747	D	0.856	0.95581	.	.	0.978194983478	0.97795	0.5831469033639415	0.58243	0.171473513557	0.19314	0.645906686783	0.59404	T	0.82378	0.95719	D	0.153688	0.69613	D	0.397545	0.92033	D	0.147231589291505	0.16881	T	0.878312	0.61048	D	0.7073891	0.78463	0.80548286	0.88614	0.7646559	0.81730	0.81967694	0.89518	-10.518	0.79620	D	0.8270670779727851	0.89876	0.578	0.76506	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.963342	0.58142	23.9	0.99811413313362374	0.89531	0.98900	0.88361	D	AEFBI	0.941729	0.94539	D	0.675049932665721	0.77999	6.783748	0.694672481234301	0.81974	7.653682	0.999999999538475	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.640000	0.82502	7.812000	0.69465	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.073	0.80759	224	0.91330	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	7947.14	34	chr3	37020402	.	T	C	7947.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.948;DP=1017;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.21;SOR=0.703	GT:AD:DP:GQ:PL	0/1:167,174:341:99:3913,0,4180	8	0	2	0
chr3	38004328	38004334	GCAGAAG	-	exonic	VILL	.	frameshift deletion	VILL:NM_001370265:exon12:c.1270_1276del:p.A424Wfs*45,VILL:NM_001370264:exon13:c.1369_1375del:p.A457Wfs*45,VILL:NM_001385039:exon16:c.1879_1885del:p.A627Wfs*45,VILL:NM_015873:exon16:c.1879_1885del:p.A627Wfs*45,VILL:NM_001385038:exon17:c.1879_1885del:p.A627Wfs*45	.	419	1101	1	1	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.655e-05	0	0	4.505e-05	0	0.0007	0.0001035	16	154602	rs766909114	2.737e-05	2.941e-05	2.587e-05	2.888e-05	0.0007	2.063e-05	1.816e-05	0.0002	0.0001	0	0	0.0002	0	0	0.0007	4.497e-06	9.937e-05	0.0002	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1041.39	36	chr3	38004327	.	CGCAGAAG	C	1041.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=0.703;SOR=0.841	GT:AD:DP:GQ:PL	0/1:27,27:54:99:1053,0,1052	9	0	1	0
chr3	38752383	38752383	C	T	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293306:exon11:c.G1591A:p.E531K,SCN10A:NM_006514:exon11:c.G1591A:p.E531K	Episodic pain syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1411112	Cardiovascular_phenotype|Brugada_syndrome	MedGen:CN230736|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.118187449559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866716316	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	7.42e-06	3.32e-06	0	4.474e-05	0	2.52e-05	1.872e-05	0.0002	8.993e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.17	0.30436	T	0.104	0.25941	B	0.016	0.17743	B	0.926566	0.08450	N	0.969211	1	0.08975	N	2.72	0.79541	M	-3.86	0.95891	D	-2.79	0.59059	D	0.454	0.49146	0.171	0.85420	D	0.779	0.92502	D	10	0.15872595	0.29842	T	0.118187	0.79816	D	0.255	0.56562	0.364	0.37036	0.660803965989	0.65795	0.41069069642407274	0.40985	0.067188620424	0.07511	0.447489082813	0.31601	T	0.459502	0.79706	T	-0.0154105	0.49505	T	-0.0840658	0.64605	T	0.174371615052223	0.18873	T	0.956938	0.83632	D	0.21501797	0.43923	0.16075602	0.37427	0.21501797	0.43923	0.16075602	0.37426	-3.61	0.18002	T	.	.	0.071	0.17016	B	.;.;.;.	.;.;.;.	3.294558	0.45196	22.1	0.99689535192745571	0.79842	0.09399	0.15163	N	AEFBI	0.040840	0.06131	N	-0.474619195573986	0.22915	1.226879	-0.458139719767244	0.23318	1.271004	0.00149586742852304	0.08586	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	3.98	0.45383	0.845000	0.27321	3.617000	0.39272	0.599000	0.40250	0.371000	0.25932	0.998000	0.33993	0.930000	0.46718	0.0:0.7458:0.163:0.0912	8.104	0.30037	692	0.58729	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1216.43	36	chr3	38752383	.	C	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.622;DP=422;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.39;SOR=0.65	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1228,0,963	9	0	1	0
chr3	40457954	40457954	A	G	exonic	RPL14	.	nonsynonymous SNV	RPL14:NM_001034996:exon2:c.A68G:p.K23R,RPL14:NM_003973:exon2:c.A68G:p.K23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0207004158269	0.0002	0.00159744	0.0006	9.61e-05	0.0003	0.0003	0	0.0003	0.0011	0.0025	0.0005498	85	154602	rs35187187	0.0006	0.0006	0.0005	0.0006	0.0026	0.0006	0.0005	0.0023	0.0022	5.974e-05	0.0003	0	0.0002	1.872e-05	0.0002	0.0005	0.0005	0.0026	0.0005	0.0005	0.0004	0.0005	0.0041	0.0004	0.0003	0.0027	0.0023	4.816e-05	0	0.0011	0	0.0010	0	0	0.0004	0.0005	0.0041	0.129	0.26852	T	0.199	0.30436	T	0.941	0.52883	P	0.376	0.43735	B	0.000033	0.55875	U	0.116455	0.999999	0.58761	D	2.06	0.56677	M	0.66	0.52416	T	-2.68	0.59226	D	0.484	0.51851	-1.0330	0.19490	T	0.112	0.40145	T	10	0.014478147	0.00304	T	0.021	0.43346	T	0.160	0.41473	.	.	0.537042168247	0.53356	0.5922857336517233	0.59158	0.445205973666	0.44417	0.811971127987	0.83795	D	0.372343	0.73654	T	-0.353176	0.04530	T	-0.285327	0.46256	T	0.0730689356652979	0.09076	T	0.845515	0.62218	T	0.18263474	0.39492	0.22827223	0.47863	0.18263474	0.39491	0.22827223	0.47862	-7.964	0.60824	D	.	.	0.134	0.29311	B	.;.;.	.;.;.	3.167279	0.42937	21.6	0.99603601874768444	0.74338	0.93915	0.59560	D	AEFDBHCI	0.830216	0.74898	D	0.206926973024637	0.51533	3.333866	0.200176722917898	0.49856	3.18404	0.999999768725362	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.49	3.32	0.37134	5.758000	0.68429	9.117000	0.78826	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.9068:0.0:0.0932:0.0	8.869	0.34461	620	0.66037	.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1277.43	38	chr3	40457954	.	A	G	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.02;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.066;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1289,0,1174	9	0	1	0
chr3	42639452	42639452	G	A	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.G3748A:p.V1250M,NKTR:NM_005385:exon13:c.G3748A:p.V1250M,NKTR:NM_001349125:exon15:c.G2989A:p.V997M,NKTR:NM_001349126:exon15:c.G2644A:p.V882M	.	.	.	.	.	.	.	.	.	.	.	4037896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00546680406916	0.0002	.	4.121e-05	0.0004	8.639e-05	0	0	0	0	0	3.23e-05	5	154602	rs146446400	1.094e-05	1.094e-05	1.497e-05	6.875e-06	0.0002	6.48e-06	5.24e-06	9.75e-05	6.95e-05	0.0002	4.472e-05	0	5.038e-05	3.744e-05	0	8.993e-07	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.736e-05	8.252e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0.0102	0	0	0	0.029	0.45756	D	0.14	0.33554	T	0.102	0.25827	B	0.054	0.25828	B	0.964000	0.08204	N	0.984141	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.09	0.08340	N	0.081	0.05670	-1.0047	0.28547	T	0.012	0.04416	T	10	0.028537393	0.00985	T	0.005467	0.14075	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.10998277987224502	0.10927	0.186972255489	0.21008	0.301775813103	0.10666	T	0.029655	0.21200	T	-0.600131	0.00146	T	-0.769822	0.02774	T	0.0368880033493042	0.03137	T	0.80392	0.46223	T	0.09213608	0.21607	0.055548005	0.09765	0.09213608	0.21607	0.055548005	0.09764	-5.023	0.37089	T	.	.	0.079	0.09239	B	.;.	.;.	0.500051	0.08693	5.464	0.9535818910617414	0.26752	0.10201	0.15773	N	AEFGBCI	0.060400	0.11476	N	-0.787927728991615	0.13623	0.6725082	-0.794509130618677	0.14630	0.765391	0.999912652788678	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	1.02	0.19102	-0.246000	0.08896	0.043000	0.13895	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.664000	0.33081	0.2355:0.1624:0.272:0.3301	0.301	0.00253	385	0.83500	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1107.43	38	chr3	42639452	.	G	A	1107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.008;DP=435;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.456;SOR=0.44	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1119,0,1448	9	0	1	0
chr3	45089121	45089121	C	T	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon8:c.G2014A:p.A672T	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.012538818012	0.0045	0.000399361	0.0029	0.0011	0.0026	0	0.0003	0.0044	0.0011	0.0010	0.0028525	441	154602	rs144019903	0.0044	0.0044	0.0045	0.0043	0.0048	0.0043	0.0043	0.0047	0.0047	0.0008	0.0020	0.0220	0	0.0005	0.0014	0.0048	0.0055	0.0007	0.0027	0.0027	0.0031	0.0023	0.0035	0.0025	0.0024	0.0032	0.0030	0.0010	0	0.0016	0.0251	0	0.0003	0.0068	0.0035	0.0014	0.0023	0.114	0.28646	T	0.136	0.34009	T	0.212	0.30008	B	0.071	0.27960	B	0.032918	0.24966	N	0.461581	1	0.08975	N	2.56	0.74772	M	0.8	0.48769	T	-2.09	0.47683	N	0.265	0.30004	-1.0593	0.11931	T	0.071	0.29034	T	10	0.0031307042	0.00052	T	0.012539	0.31203	T	0.055	0.15663	.	.	0.257292322809	0.25322	0.5529361181266116	0.55219	0.328850695401	0.34999	0.269393265247	0.06062	T	0.342045	0.71087	T	-0.52918	0.00388	T	-0.530573	0.19230	T	0.0282055079392877	0.01718	T	0.641436	0.25361	T	0.044731393	0.07203	0.07840369	0.17557	0.044731393	0.07202	0.07840369	0.17556	-6.145	0.47477	T	.	.	0.089	0.12323	B	.	.	1.390502	0.18032	13.51	0.92512126831596864	0.21952	0.16521	0.19427	N	AEFDGBCIJ	0.076913	0.15484	N	-1.04348857157233	0.07716	0.3593939	-1.06746835915772	0.08346	0.4100008	0.999991765901964	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.7	1.95	0.25130	0.891000	0.27944	0.112000	0.14796	-0.172000	0.11096	0.013000	0.18845	0.002000	0.18203	0.003000	0.05239	0.0:0.7637:0.0:0.2363	12.849	0.57230	567	0.70732	.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1002.43	34	chr3	45089121	.	C	T	1002.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.695;DP=422;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.448;SOR=0.439	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1014,0,760	9	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1240.43	37	chr3	46858411	.	C	T	1240.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=441;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=2.18;SOR=0.892	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1252,0,1423	9	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	116.92	86	chr3	48174283	.	C	G	116.92	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.236;DP=735;ExcessHet=0.7463;FS=134.56;InbreedingCoeff=-0.2658;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.31;SOR=9.624	GT:AD:DP:GQ:PL	0/1:42,17:66:48:48,0,540	5	0	3	2
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.1	2784.14	35	chr3	48589399	.	C	T	2784.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.542;DP=520;ExcessHet=0.2348;FS=1.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.609;SOR=0.561	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1527,0,1184	8	0	2	0
chr3	49357420	49357420	C	T	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.G442A:p.A148T	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	1	1480	41	0	0	41	0.0136621	.	.	.	3206544	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0078	0.0125799	0.0041	0.0323	0.0018	0	0	0.0008	0.0023	0.0075	0.0039133	605	154602	rs6446261	0.0018	0.0018	0.0017	0.0018	0.0328	0.0017	0.0017	0.0311	0.0305	0.0328	0.0027	0.0039	5.041e-05	0	0.0090	0.0003	0.0035	0.0075	0.0096	0.0097	0.0095	0.0098	0.0320	0.0092	0.0091	0.0306	0.0300	0.0320	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0081	0.0079	0.581	0.05973	T	0.516	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.050785	0.23039	N	0.475441	1	0.81001	D	1.29	0.32370	L	3.7	0.04079	T	-0.44	0.14588	N	0.122	0.11340	-0.9341	0.43530	T	0.003	0.00994	T	10	0.0057239234	0.00127	T	.	.	.	0.036	0.09122	.	.	0.310458034454	0.30648	.	.	0.625492213557	0.56726	0.266051054001	0.05632	T	0.046592	0.27470	T	-0.64502	0.00078	T	-0.675618	0.07253	T	0.00226996346110567	0.00024	T	0.460354	0.25495	T	0.036734007	0.04575	0.030052433	0.01414	0.036734007	0.04575	0.030052433	0.01413	.	.	.	.	.	0.088	0.13268	B	.;.;.	.;.;.	2.313638	0.29619	18.18	0.91150700794935624	0.20404	0.68796	0.33938	D	AEFGBCI	0.286005	0.39849	N	-0.459519707602378	0.23419	1.257467	-0.361417653601922	0.26157	1.443024	0.99999992207612	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	3.28	0.36691	0.873000	0.27702	2.188000	0.31185	0.596000	0.33519	0.954000	0.33273	0.999000	0.35428	0.731000	0.35132	0.1517:0.6012:0.0:0.2471	4.660	0.12023	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010171	0.010417	0.014986	0.008264	0.050000	0.025862	0.003145	0.007692	0.05	623.43	33	chr3	49357420	.	C	T	623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.2;MQRankSum=-0.486;QD=12.47;ReadPosRankSum=2.18;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,27:50:99:1|0:49357401_G_A:635,0,753:49357401	9	0	1	0
chr3	49358265	49358265	C	G	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon1:c.G14C:p.R5P	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	2	1481	39	0	0	39	0.0129957	.	.	.	3217126	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.043	.	.	0.0125799	0.0059	0.0383	0	0	0	0.0015	0	0.0047	0.0012484	193	154602	rs8179169	0.0017	0.0017	0.0016	0.0018	0.0329	0.0016	0.0016	0.0313	0.0306	0.0329	0.0029	0.0041	5.632e-05	0	0.0047	0.0003	0.0036	0.0075	0.0097	0.0097	0.0095	0.0098	0.0321	0.0093	0.0091	0.0306	0.0301	0.0321	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0080	0.0079	0.056	0.53900	T	0.062	0.45318	T	0.0	0.02946	B	0.0	0.01387	B	0.973120	0.07792	N	1.021110	1	0.08975	N	0.55	0.14455	N	4.07	0.12988	T	-0.98	0.29525	N	0.1	0.40063	-0.9659	0.38033	T	0.017	0.06807	T	10	0.0021373928	0.00031	T	.	.	.	0.043	0.11576	.	.	0.43656330218	0.43278	.	.	0.930252368807	0.71791	0.628332972527	0.56908	T	0.041852	0.25994	T	-0.600678	0.00144	T	-0.612612	0.11774	T	0.0213533665627042	0.00838	T	0.422258	0.11242	T	0.20519191	0.42654	0.19333829	0.42897	0.20519191	0.42654	0.19333829	0.42896	.	.	.	.	.	0.077	0.11701	B	.;.;.;.	.;.;.;.	0.471235	0.08407	5.163	0.9515917842168633	0.26303	0.05059	0.10849	N	AEFGBHCIJ	.	.	.	-1.18523976353331	0.05223	0.237591	-1.2369128723785	0.05328	0.2535777	0.999999999999359	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	-5.29	0.02535	-0.629000	0.05605	-1.318000	0.05730	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.2114:0.2629:0.2908:0.2349	0.981	0.01346	1	0.99630	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009732	0.018293	0.013793	0.013605	0.000000	0.032609	0.003846	0.000000	0.05	1198.43	40	chr3	49358265	.	C	G	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.426;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.23;MQRankSum=-2.808;QD=20.31;ReadPosRankSum=-0.733;SOR=0.702	GT:AD:DP:GQ:PL	0/1:27,32:59:99:1210,0,1037	9	0	1	0
chr3	49663442	49663442	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11284A:p.P3762T	.	420	1078	24	0	0	24	0.0110092	.	.	.	2827428	not_provided|BSN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0108063378822	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0004	0.0023	0.0066	0.0010026	155	154602	rs144229405	0.0006	0.0006	0.0005	0.0008	0.0067	0.0006	0.0006	0.0063	0.0061	0	0.0002	0.0023	5.038e-05	0	0.0019	0.0002	0.0007	0.0067	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0064	0.015	0.52492	D	0.06	0.45744	T	0.079	0.24468	B	0.095	0.30245	B	0.017031	0.27826	N	0.326424	1	0.08975	N	1.87	0.49600	L	2.29	0.17113	T	-1.58	0.38151	N	0.268	0.30347	-1.0552	0.12987	T	0.050	0.21182	T	10	0.0037391782	0.00069	T	0.010806	0.27768	T	0.066	0.19193	.	.	0.226560886239	0.22246	0.09192954584532985	0.09125	0.308978366714	0.33215	0.343515455723	0.16964	T	0.225006	0.58962	T	-0.558339	0.00260	T	-0.570927	0.15365	T	0.0306765184533137	0.02094	T	0.731327	0.34690	T	0.13208981	0.30767	0.108388096	0.26108	0.13208981	0.30767	0.108388096	0.26107	-3.832	0.21283	T	.	.	0.062	0.01309	B	.	.	2.739040	0.35869	20.1	0.7998964767988519	0.12993	0.74041	0.36216	D	AEFDGBI	0.354905	0.44682	N	-0.273314751723846	0.30181	1.680581	-0.219681796617042	0.30831	1.739349	0.999999987122754	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	3.791000	0.55173	2.663000	0.33894	0.599000	0.40250	0.515000	0.27072	0.083000	0.22416	0.994000	0.71098	0.0:1.0:0.0:0.0	17.099	0.86520	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.007576	0.05	1433.43	36	chr3	49663442	.	C	A	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.487;DP=452;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.642;SOR=0.542	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1445,0,1811	9	0	1	0
chr3	49674589	49674589	A	G	exonic	APEH	.	nonsynonymous SNV	APEH:NM_001640:exon2:c.A113G:p.Q38R	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0105875124332	0.0002	0.000798722	0.0022	0	0.0011	0	0	0.0006	0.0034	0.0081	0.000925	143	154602	rs373871160	0.0007	0.0007	0.0005	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	2.997e-05	0.0002	0.0023	5.132e-05	0	0.0022	0.0002	0.0008	0.0069	0.0004	0.0004	0.0003	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0072	0.214	0.20002	T	0.39	0.15746	T	0.026	0.19406	B	0.007	0.12992	B	0.000166	0.48594	D	0.184382	0.859709	0.35366	D	0.6	0.15550	N	0.95	0.43279	T	-0.68	0.23156	N	0.433	0.48042	-1.0567	0.12595	T	0.044	0.19111	T	10	0.0069631636	0.00158	T	0.010588	0.27302	T	0.123	0.34020	.	.	0.56205713848	0.55868	0.4088749442169822	0.40803	0.326912076486	0.34833	0.654809296131	0.60669	T	0.248251	0.61802	T	-0.419043	0.01734	T	-0.370838	0.36791	T	0.0676119346168108	0.08312	T	0.840116	0.52137	T	0.25801915	0.48849	0.31162238	0.57168	0.25801915	0.48849	0.31162238	0.57167	-1.76	0.02392	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	4.853973	0.79367	27.1	0.9004736317270754	0.19334	0.76614	0.37589	D	ALL	0.546461	0.56055	D	-0.421080291024909	0.24731	1.33748	-0.203554513993897	0.31407	1.77722	0.999999999978632	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	3.76	0.42368	5.050000	0.64066	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8577:0.0:0.0:0.1423	10.777	0.45553	1	0.99630	.;.;.	.	.	.	.	.	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	0.002575	0.000000	0.000000	0.000000	0.000000	0.025862	0.006369	0.007576	0.05	365.43	34	chr3	49674589	.	A	G	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.396;DP=345;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.821;SOR=0.815	GT:AD:DP:GQ:PL	0/1:13,18:31:99:377,0,339	9	0	1	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1	108.14	49	chr3	49686750	.	C	G	108.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=723;ExcessHet=0.2348;FS=40.423;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=47.86;MQRankSum=-3.87;QD=0.52;ReadPosRankSum=0.562;SOR=3.08	GT:AD:DP:GQ:PL	0/1:60,8:68:25:25,0,1639	8	0	2	0
chr3	50275704	50275704	G	C	splicing	SEMA3B	NM_004636:exon17:c.1706-1G>C;NM_001005914:exon17:c.1703-1G>C;NM_001290060:exon16:c.1706-1G>C;NM_001290061:exon16:c.1721-1G>C;NM_001290063:exon10:c.677-1G>C;NM_001290062:exon10:c.677-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.376e-06	0	0	0	0	0	0	6.149e-05	6.5e-06	1	154602	.	3.424e-06	3.42e-06	1.362e-06	5.509e-06	4.643e-05	1e-06	7.3e-07	1.584e-05	9.3e-06	0	0	0	0	0	0	9.001e-07	0	4.643e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0552533	0.59015	T	0.023119	0.71833	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.541260	0.71388	25.7	0.98774409857592782	0.46017	0.58719	0.30718	D	AEFDBCIJ	.	.	.	-0.0376821476394055	0.40155	2.379861	-0.0460293388955134	0.37663	2.208228	0.999982348814409	0.51787	0.199473	0.04044	0	0.109994	0.03358	0	0.215285	0.04585	0	0.109499	0.03221	0	0.860406	0.52758	5.13	4.19	0.48645	1.772000	0.38182	11.586000	0.93374	0.672000	0.70159	0.098000	0.22752	1.000000	0.68203	0.145000	0.20128	0.0:0.0:0.8:0.2	10.085	0.41583	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1972.43	36	chr3	50275704	.	G	C	1972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=483;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.793;SOR=0.798	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1984,0,1668	9	0	1	0
chr3	52291039	52291039	C	T	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_001144951:exon3:c.C457T:p.R153W,GLYCTK:NM_145262:exon3:c.C457T:p.R153W	D-glyceric aciduria, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	513540	not_provided|D-Glyceric_aciduria	MedGen:C3661900|MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0537849602426	.	0.000998403	0.0008	0	0.0003	0	0	9.05e-05	0	0.0054	0.000705	109	154602	rs199906865	0.0004	0.0004	0.0002	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	8.961e-05	0.0003	0	2.519e-05	0	0.0007	3.237e-05	0.0004	0.0063	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0037	0.004	0.68238	D	0.014	0.69154	D	1.0	0.90584	D	0.967	0.71530	D	0.012929	0.29007	N	0.369705	0.799269	0.34489	D	2.37	0.68279	M	0.84	0.47477	T	-3.16	0.67359	D	0.556	0.65074	-0.4854	0.69173	T	0.249	0.61797	T	10	0.015844643	0.00333	T	0.053785	0.65605	D	0.222	0.51872	.	.	0.780631358594	0.77861	0.6017188784880549	0.60102	0.466306968941	0.46040	0.454500436783	0.32559	T	0.306036	0.67826	T	-0.377627	0.03224	T	-0.312877	0.43348	T	0.11398430062026	0.13831	T	0.973703	0.90499	D	0.23978326	0.46873	0.27480632	0.53412	0.3116373	0.53928	0.30581847	0.56607	-7.351	0.63765	T	0.4441635810553473	0.52914	0.171	0.42934	B	.;.;.;.;.;.	.;.;.;.;.;.	3.678371	0.52339	23.2	0.99822702653012096	0.90502	0.68984	0.34010	D	AEFDBCI	0.761068	0.69889	D	-0.002109385934802	0.41759	2.503677	-0.134716402862437	0.34003	1.951055	0.999986759455386	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.12	3.24	0.36257	1.095000	0.30575	1.520000	0.27085	-0.180000	0.10397	1.000000	0.71638	0.842000	0.27309	0.002000	0.04165	0.5211:0.3649:0.114:0.0	9.381	0.37476	86	0.96395	MOFRL-associated domain;.;.;MOFRL-associated domain;MOFRL-associated domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1082.43	33	chr3	52291039	.	C	T	1082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=460;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.417;SOR=0.607	GT:AD:DP:GQ:PL	0/1:73,47:120:99:1094,0,1679	9	0	1	0
chr3	52711865	52711865	C	T	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon15:c.G2171A:p.R724H,NEK4:NM_001348412:exon15:c.G2300A:p.R767H,NEK4:NM_001348414:exon16:c.G2192A:p.R731H,NEK4:NM_003157:exon16:c.G2438A:p.R813H	.	435	1083	4	0	0	4	0.00184332	.	.	.	2348147	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.090	0.0139815353854	.	0.000199681	0.0005	9.737e-05	0.0007	0	0	0.0005	0.0011	0.0007	0.000401	62	154602	rs182485847	0.0004	0.0004	0.0003	0.0004	0.0016	0.0004	0.0003	0.0008	0.0006	3.057e-05	0.0007	0.0019	0	0	0.0016	0.0003	0.0006	0.0008	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0008	0.0032	0	0	0	0.0004	0.0019	0.0010	0.345	0.12511	T	0.287	0.22223	T	0.005	0.12996	B	0.0	0.01387	B	0.913531	0.08536	N	0.961149	0.999998	0.08975	N	0.44	0.12706	N	-0.65	0.73100	T	-0.34	0.12661	N	0.047	0.12198	-1.0027	0.29139	T	0.174	0.51785	T	10	0.010242075	0.00229	T	0.013982	0.33782	T	0.090	0.26093	.	.	0.440915056915	0.43709	0.05958447060273862	0.05898	0.178398932634	0.20072	0.229261159897	0.01914	T	0.015997	0.13307	T	-0.467292	0.00884	T	-0.501784	0.22164	T	0.0170956823099555	0.00455	T	0.668433	0.27736	T	0.015594748	0.00147	0.026060842	0.00677	0.015594748	0.00147	0.026060842	0.00676	-3.594	0.21074	T	.	.	0.086	0.20857	B	.;.	.;.	0.047207	0.04616	1.283	0.87059647025905962	0.16960	0.17105	0.19691	N	AEFGBI	0.037998	0.05312	N	-1.10993540913515	0.06466	0.2977134	-1.02373705135555	0.09264	0.4599144	0.996762205939557	0.34990	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.43	-0.657	0.10858	0.069000	0.14419	-4.947000	0.01915	-0.892000	0.02379	0.789000	0.29582	0.000000	0.08366	0.653000	0.32775	0.0:0.4859:0.0:0.5141	11.897	0.51942	28	0.98252	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	484.43	34	chr3	52711865	.	C	T	484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.713;DP=358;ExcessHet=0;FS=6.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.781;SOR=0.18	GT:AD:DP:GQ:PL	0/1:24,22:46:99:496,0,556	9	0	1	0
chr3	62372521	62372521	-	CCG	exonic	FEZF2	.	nonframeshift insertion	FEZF2:NM_018008:exon2:c.347_348insCGG:p.G117_A118insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0008	3.84e-05	1	26028	rs753783625	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0031	0.0029	0.0002	0.0002	0	0.0006	0.0001	0.0010	6.486e-05	0.0009	0.0037	0.0003	0.0003	0.0003	0.0003	0.0044	0.0002	0.0002	0.0030	0.0025	0.0002	0	0.0003	0.0003	0.0002	0	0	8.934e-05	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011057	0.012195	0.008163	0.003497	0.055556	0.020408	0.018382	0.013889	0.05	559.39	33	chr3	62372521	.	C	CCCG	559.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=364;ExcessHet=0;FS=3.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-1.667;SOR=0.307	GT:AD:DP:GQ:PL	0/1:14,16:30:99:571,0,532	9	0	1	0
chr3	64022429	64022429	C	A	exonic	PSMD6	.	nonsynonymous SNV	PSMD6:NM_001271780:exon2:c.G126T:p.E42D,PSMD6:NM_001271781:exon2:c.G123T:p.E41D,PSMD6:NM_014814:exon2:c.G240T:p.E80D,PSMD6:NM_001271779:exon3:c.G399T:p.E133D	.	428	1092	2	0	0	2	0.000914913	.	.	.	3592108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.00568170266468	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs766512436	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0001	6.16e-06	4.89e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.044	0.42487	D	0.072	0.45110	T	0.001	0.07471	B	0.013	0.16460	B	0.000000	0.84330	D	0.047004	1	0.81001	D	1.63	0.41750	L	.	.	.	-2.21	0.52128	N	0.671	0.70351	-0.7185	0.59536	T	0.237	0.60487	T	9	0.20300901	0.36440	T	0.005682	0.14712	T	0.151	0.39764	0.493	0.58048	0.801838272039	0.79998	0.5683056667283517	0.56758	0.464151656915	0.45893	0.696761369705	0.66676	T	0.191545	0.54642	T	-4.54509e-05	0.51647	T	-0.0351878	0.68023	D	0.452041864395142	0.30872	T	0.943406	0.78638	D	0.3690429	0.58514	0.22159903	0.46975	0.3690429	0.58514	0.22159903	0.46974	-6.501	0.53924	T	.	.	0.207	0.64925	B	.;.;.;.;.;.	.;.;.;.;.;.	3.058589	0.41064	21.3	0.99614914268387744	0.75052	0.77698	0.38233	D	AEFDBCI	0.514951	0.54211	D	0.032348417768535	0.43332	2.628135	0.161600494245199	0.47759	3.001423	0.999999974527461	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.19	5.19	0.71428	0.894000	0.27983	2.762000	0.34611	0.599000	0.40250	0.988000	0.36536	0.994000	0.32194	0.934000	0.47231	0.0:0.9146:0.0:0.0854	12.674	0.56247	561	0.71236	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1685.43	38	chr3	64022429	.	C	A	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.981;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.013;SOR=0.735	GT:AD:DP:GQ:PL	0/1:91,75:166:99:1697,0,2276	9	0	1	0
chr3	69101876	69101876	G	A	exonic	ARL6IP5	.	nonsynonymous SNV	ARL6IP5:NM_006407:exon2:c.G214A:p.V72M	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.116183065445	.	0.000399361	0.0002	0	0	0	0	0	0.0011	0.0014	0.0001617	25	154602	rs572858493	8.073e-05	8.072e-05	3.948e-05	0.0001	0.0011	6.868e-05	6.421e-05	0.0009	0.0008	0	4.474e-05	0	0	0	0	1.889e-05	6.624e-05	0.0011	4.604e-05	5.252e-05	5.147e-05	4.037e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.942e-05	0	0.0010	0.004	0.65419	D	0.015	0.61642	D	0.99	0.63424	D	0.799	0.58136	P	0.000010	0.62929	D	0.114058	0.999986	0.81001	D	2.675	0.78361	M	-1.54	0.81640	D	-1.68	0.40082	N	0.62	0.63544	0.329	0.88016	D	0.623	0.86709	D	10	0.17694792	0.32704	T	0.116183	0.79559	D	0.591	0.83691	0.58	0.70604	0.913313443096	0.91244	0.8256454972724676	0.82522	0.644448801258	0.57936	0.539638102055	0.44394	T	0.221505	0.58509	T	-0.178044	0.24028	T	-0.0740762	0.65335	T	0.238232485573491	0.22337	T	0.904909	0.66542	D	0.13049585	0.30447	0.1675674	0.38650	0.13049585	0.30447	0.1675674	0.38650	-4.707	0.33489	T	.	.	0.326	0.54961	B	.	.	4.530633	0.71121	25.6	0.99867605178413277	0.94547	0.97284	0.73788	D	AEFGBI	0.782758	0.71395	D	0.533692140866705	0.69097	5.308662	0.434921866556404	0.63754	4.615658	0.999999966452191	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.89	0.63387	5.573000	0.67117	7.604000	0.61663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.1527:0.0:0.8473:0.0	10.2	0.42254	333	0.86326	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1376.43	34	chr3	69101876	.	G	A	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=416;ExcessHet=0;FS=5.222;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.745;SOR=1.269	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1388,0,1095	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,31:89:99:0|1:75730450_C_T:1122,0,2296:75730450	0	0	10	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,13:74:99:0|1:75736884_G_GA:362,0,2522:75736884	0	0	10	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,13:78:99:0|1:75736884_G_GA:350,0,2690:75736884	0	0	10	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,8:79:99:0|1:75736884_G_GA:122,0,2957:75736884	1	0	9	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,7:74:86:0|1:75736884_G_GA:86,0,2792:75736884	1	0	9	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:65,15:80:99:221,0,1948	1	0	6	3
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:63,16:79:99:216,0,1940	2	0	8	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:63,25:88:99:406,0,2178	1	0	9	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,21:91:99:0|1:75737092_C_T:671,0,2830:75737092	0	0	10	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,21:89:99:0|1:75737092_C_T:677,0,2792:75737092	0	0	10	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,19:89:99:0|1:75737092_C_T:587,0,2882:75737092	0	0	10	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:99:0|1:75737092_C_T:449,0,3059:75737092	0	0	10	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,7:70:99:0|1:75737092_C_T:104,0,2615:75737092	1	0	9	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,40:121:99:0|1:75737519_G_A:1355,0,3135:75737519	0	0	10	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,41:126:99:0|1:75737586_A_T:1462,0,3437:75737586	0	0	10	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:75737586_A_T:1451,0,3656:75737586	0	0	10	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,45:130:99:0|1:75737586_A_T:1634,0,3434:75737586	0	0	10	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,44:122:99:0|1:75737586_A_T:1613,0,3143:75737586	0	0	10	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,49:125:99:0|1:75737586_A_T:1829,0,3044:75737586	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,35:114:99:0|1:75737814_C_T:1191,0,2977:75737814	0	0	10	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:75737881_T_C:644,0,3706:75737881	1	0	9	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,18:118:99:0|1:75737881_T_C:430,0,4108:75737881	1	0	9	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:75737881_T_C:456,0,4036:75737881	1	0	9	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	548.1	208	chr3	75737947	.	CCT	C	548.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.567;DP=1609;ExcessHet=0.2348;FS=12.87;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.14;MQRankSum=-10.5;QD=2.1;ReadPosRankSum=2.75;SOR=1.486	GT:AD:DP:GQ:PL	0/1:116,15:131:99:281,0,4751	8	0	2	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,17:161:99:0|1:75737994_T_C:240,0,5995:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,12:143:99:0|1:75737994_T_C:110,0,5465:75737994	2	0	8	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	709.64	205	chr3	75738071	.	A	G	709.64	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.6;DP=1813;ExcessHet=1.5895;FS=5.078;InbreedingCoeff=-0.2392;MLEAC=4;MLEAF=0.2;MQ=57.56;MQRankSum=-9.725;QD=0.92;ReadPosRankSum=-1.306;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,9:132:8:0|1:75737994_T_C:8,0,5138:75737994	6	0	4	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	499.56	201	chr3	75738074	.	G	A	499.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.07;DP=1768;ExcessHet=0.7463;FS=7.183;InbreedingCoeff=-0.174;MLEAC=3;MLEAF=0.15;MQ=57.65;MQRankSum=-9.299;QD=0.85;ReadPosRankSum=-1.531;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,9:131:11:0|1:75737994_T_C:11,0,5096:75737994	7	0	3	0
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	421.2	201	chr3	75738077	.	A	C	421.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.795;DP=1759;ExcessHet=0.2348;FS=5.489;InbreedingCoeff=-0.1102;MLEAC=2;MLEAF=0.1;MQ=57.68;MQRankSum=-8.896;QD=1.32;ReadPosRankSum=-1.698;SOR=1.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,9:130:14:0|1:75737994_T_C:14,0,5054:75737994	8	0	2	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:49,16:65:99:254,0,1290	1	0	9	0
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.05	618.43	36	chr3	107747993	.	C	T	618.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.078;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.434;SOR=0.641	GT:AD:DP:GQ:PL	0/1:64,30:94:99:630,0,1622	9	0	1	0
chr3	114056378	114056378	T	G	exonic	CCDC191	.	nonsynonymous SNV	CCDC191:NM_001353766:exon1:c.A89C:p.K30T,CCDC191:NM_001353767:exon1:c.A204C:p.Q68H,CCDC191:NM_020817:exon1:c.A89C:p.K30T	.	423	1091	8	0	0	8	0.00365297	0.9999	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.098538815935	0.0004	0.000599042	0.0012	0.0006	0.0006	0	0.0002	0.0017	0.0022	0.0008	0.0011707	181	154602	rs188278742	0.0009	0.0009	0.0009	0.0010	0.0043	0.0009	0.0009	0.0030	0.0026	0.0003	0.0007	0.0007	0	0.0004	0.0043	0.0010	0.0010	0.0010	0.0008	0.0008	0.0009	0.0006	0.0012	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0008	0	0	0.0002	0.0136	0.0012	0.0028	0.0010	0.009	0.65419	D	0.02	0.58613	D	0.585	0.38912	P	0.399	0.44455	B	0.650297	0.10519	N	0.850573	1	0.81001	D	.	.	.	1.41	0.69027	T	-1.13	0.51319	N	0.43	0.46928	-0.6120	0.64320	T	0.243	0.61166	T	10	0.021882564	0.00894	T	0.098539	0.76958	D	0.102	0.29158	.	.	0.780395842186	0.77837	0.1119019663191895	0.11119	0.251783171802	0.27756	0.358437001705	0.19157	T	0.001356	0.54412	T	-0.249647	0.14140	T	-0.150391	0.59209	T	0.126157848300512	0.15023	T	0.485551	0.14815	T	0.22588997	0.45259	0.28011796	0.53985	0.22588997	0.45259	0.28011796	0.53984	-4.547	0.31498	T	.	.	0.127	0.47762	B	.;.	.;.	4.632355	0.73669	26.0	0.99537961041996825	0.70336	0.76228	0.37370	D	ALL	0.597602	0.59132	D	0.594750067591439	0.72845	5.870465	0.586350544569508	0.73961	6.056679	0.999999999901552	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.54	5.54	0.82907	3.663000	0.54256	7.812000	0.69465	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:0.0:0.0:1.0	11.996	0.52493	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1030.43	33	chr3	114056378	.	T	G	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.059;DP=431;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-1.099;SOR=0.904	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1042,0,1375	9	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/1:41,15:56:27:27,0,830	4	0	6	0
chr3	119147010	119147010	C	T	exonic	TEX55	.	nonsynonymous SNV	TEX55:NM_152539:exon1:c.C821T:p.T274I	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0045	0.00459265	0.0012	0.0129	0.0005	0	0	0.0001	0	0.0001	0.0012096	187	154602	rs111772696	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0008	0	0	0	0.0028	3.327e-05	0.0006	6.956e-05	0.0036	0.0036	0.0038	0.0034	0.0123	0.0034	0.0033	0.0115	0.0111	0.0123	0	0.0019	0	0	0	0	4.41e-05	0.0019	0	0.264	0.16358	T	0.315	0.19421	T	0.007	0.14184	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.28	0.10031	N	1.59	0.28836	T	-1.56	0.37759	N	0.029	0.00666	-1.0382	0.17863	T	0.016	0.06377	T	9	0.002955854	0.00048	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.046697440154733545	0.04612	0.0477099452941	0.05209	.	.	.	0.017563	0.14308	T	-0.651524	0.00071	T	-0.698258	0.05922	T	0.00658722181036217	0.00074	T	0.377662	0.09049	T	0.031345107	0.02959	0.032617282	0.02026	0.031345107	0.02958	0.032617282	0.02026	-3.934	0.22813	T	.	.	0.146	0.32324	B	.	.	-2.296852	0.00051	0.001	0.57598582230209039	0.05805	0.00775	0.03189	N	AEFBCI	0.023952	0.01408	N	-1.88371333643327	0.00371	0.01593223	-1.9656629763108	0.00361	0.01595607	0.994779756972835	0.33794	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	2.28	-4.56	0.03187	-3.943000	0.00371	-9.025000	0.00878	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1304:0.18:0.1301:0.5595	2.497	0.04342	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2187.43	62	chr3	119147010	.	C	T	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.079;DP=945;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.157;SOR=0.675	GT:AD:DP:GQ:PL	0/1:84,77:161:99:2199,0,2431	9	0	1	0
chr3	119537316	119537316	G	A	exonic	CD80	.	nonsynonymous SNV	CD80:NM_005191:exon4:c.C521T:p.S174F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	.	.	0.00299521	0.0016	0	8.651e-05	0.0002	0	1.499e-05	0.0011	0.0117	0.0014424	223	154602	rs557789334	0.0007	0.0007	0.0004	0.0010	0.0112	0.0007	0.0006	0.0106	0.0103	2.987e-05	0	0	2.52e-05	0	0.0005	2.698e-06	0.0008	0.0112	0.0005	0.0005	0.0002	0.0008	0.0160	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0160	0.106	0.29688	T	0.028	0.54934	D	0.999	0.77913	D	0.965	0.71173	D	0.202514	0.16564	N	0.550372	0.755761	0.81001	D	1.545	0.39105	L	-1.21	0.78645	T	-1.36	0.39503	N	0.239	0.26957	-0.2824	0.75475	T	0.468	0.79471	T	10	0.014136165	0.00298	T	.	.	.	0.380	0.69780	0.45	0.51121	0.87115763179	0.86990	0.4155837515344031	0.41474	0.544817546542	0.51525	0.405417025089	0.25822	T	0.591415	0.86770	D	-0.401303	0.02270	T	-0.338833	0.40477	T	0.0562751892070777	0.06569	T	0.825817	0.49964	T	0.15942807	0.35813	0.09658207	0.22953	0.15942807	0.35813	0.09658207	0.22953	-6.127	0.50255	T	.	.	0.135	0.29422	B	.;.;.	.;.;.	2.933806	0.38987	20.9	0.99381422992552315	0.61891	0.52172	0.29068	D	AEFBI	0.127749	0.24524	N	0.00809691155564879	0.42223	2.54	-0.0667513048338584	0.36774	2.144444	0.0044273550582207	0.10550	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.23	0.287	0.14965	0.673000	0.24883	0.933000	0.22794	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.3368:0.0:0.5127:0.1504	4.23	0.10053	626	0.65439	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|CD80, IgC-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|CD80, IgC-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1117.43	33	chr3	119537316	.	G	A	1117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=391;ExcessHet=0;FS=4.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.43;SOR=0.319	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1129,0,980	9	0	1	0
chr3	120167859	120167859	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon10:c.C1606T:p.R536W,GPR156:NM_153002:exon10:c.C1618T:p.R540W	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0243374650892	7.7e-05	0.000399361	0.0007	0	8.645e-05	0	0	0.0002	0.0022	0.0041	0.0005886	91	154602	rs199913082	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0.0018	0	0	0.0002	6.295e-05	0.0007	0.0045	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0	0	0	0.0017	0	0	0	4.41e-05	0	0.0046	0.002	0.72154	D	0.019	0.59159	D	0.066	0.23586	B	0.009	0.14300	B	0.072039	0.21435	N	0.425797	1	0.08975	N	1.79	0.46772	L	1.41	0.33412	T	-2.74	0.58248	D	0.266	0.32812	-1.0407	0.17101	T	0.055	0.23148	T	9	0.0061562955	0.00139	T	0.024337	0.47327	T	0.029	0.06676	.	.	0.0401082797425	0.02173	0.3319435284028825	0.33107	0.872929906287	0.69463	0.279810249805	0.07466	T	0.028255	0.20509	T	-0.539139	0.00339	T	-0.54805	0.17513	T	0.0543781023757804	0.06254	T	0.615438	0.23533	T	0.08862289	0.20679	0.09649398	0.22929	0.08862289	0.20678	0.09649398	0.22928	-5.403	0.40948	T	.	.	0.120	0.39915	B	.;.;.	.;.;.	2.328307	0.29821	18.24	0.99521897104187262	0.69284	0.10645	0.16093	N	AEFBI	0.256558	0.37546	N	-1.08993080368548	0.06827	0.3154143	-1.16755089574884	0.06459	0.3109497	0.9996969145207	0.41870	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	-1.62	0.07926	0.732000	0.25740	0.412000	0.18122	-0.124000	0.13482	0.005000	0.17040	0.017000	0.20586	0.246000	0.23158	0.0:0.1328:0.3767:0.4905	6.752	0.22682	759	0.50631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1365.43	162	chr3	120167859	.	G	A	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=1251;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.958;SOR=0.876	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1377,0,1501	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:57,24:85:81:81,0,1359	0	0	7	3
chr3	123961145	123961145	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon1:c.A29G:p.Q10R,CCDC14:NM_022757:exon1:c.A29G:p.Q10R	.	410	1106	6	0	0	6	0.00270514	0.9126	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0582276325653	.	0.00119808	0.0044	0	0	0	0	0.0008	0	0.0094	0.0005886	91	154602	rs199954557	0.0008	0.0008	0.0005	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	0.0001	0.0001	0.0015	2.798e-05	0	0.0014	0.0002	0.0012	0.0094	0.0004	0.0004	0.0003	0.0006	0.0064	0.0003	0.0003	0.0047	0.0041	4.811e-05	0	0.0004	0.0023	0	0	0	0.0002	0.0005	0.0064	0.021	0.49117	D	0.021	0.58089	D	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	0.997467	0.43910	D	1.1	0.28011	L	0.56	0.55266	T	-1.08	0.28906	N	0.388	0.47580	-0.6059	0.64573	T	0.259	0.62999	T	9	0.00781402	0.00177	T	0.058228	0.67243	D	0.100	0.28662	.	.	0.616575112523	0.61347	0.1111222090347736	0.11041	0.0663824598009	0.07400	0.475799977779	0.35479	T	0.042518	0.26459	T	-0.374404	0.03377	T	-0.304468	0.44251	T	0.0455950662615678	0.04710	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	-2.422	0.05269	T	.	.	0.156	0.46813	B	.;.;.;.	.;.;.;.	6.111452	0.94586	34	0.90016245213527835	0.19305	0.87820	0.47492	D	ALL	0.427625	0.49149	N	0.459755420738432	0.64760	4.737754	0.378454890646036	0.60237	4.209247	0.999999999915583	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.31	3.31	0.37025	3.212000	0.50847	7.301000	0.58090	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	8.267	0.30979	792	0.45996	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	933.43	33	chr3	123961145	.	T	C	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=406;ExcessHet=0;FS=5.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.559;SOR=1.293	GT:AD:DP:GQ:PL	0/1:56,41:97:99:945,0,1267	9	0	1	0
chr3	124678302	124678302	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon17:c.G2212A:p.V738I,KALRN:NM_007064:exon17:c.G2215A:p.V739I,KALRN:NM_001024660:exon50:c.G7306A:p.V2436I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00788940352241	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs556441458	4.858e-05	4.857e-05	2.859e-05	6.877e-05	0.0008	3.927e-05	3.605e-05	0.0006	0.0006	0	0	0	0	0	0	0	3.313e-05	0.0008	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.267	0.26852	T	0.188	0.50514	T	.	.	.	.	.	.	0.111000	0.19419	N	0.528727	0.849633	0.28515	N	.	.	.	0.21	0.59983	T	-0.41	0.16187	N	0.461	0.49783	-0.9174	0.45904	T	0.172	0.51341	T	10	0.07221797	0.10751	T	0.007889	0.20929	T	0.137	0.36984	.	.	0.726647214056	0.72422	.	.	.	.	0.569774389267	0.48645	T	0.005847	0.05296	T	-0.314356	0.07369	T	-0.318242	0.42768	T	0.0876760549412583	0.10939	T	0.950205	0.82551	D	.	.	.	.	.	.	.	.	-3.893	0.22197	T	.	.	0.117	0.26232	B	.;.	.;.	4.162100	0.62513	24.5	0.9977850829380398	0.86519	0.99607	0.97932	D	AEFBI	0.894843	0.83426	D	0.228135148772184	0.52565	3.430026	0.401632192506484	0.61665	4.370008	0.999871493258918	0.44625	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	5.365000	0.65866	9.858000	0.82036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.761	0.88373	867	0.32089	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1123.43	33	chr3	124678302	.	G	A	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=399;ExcessHet=0;FS=1.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.413;SOR=0.927	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1135,0,1059	9	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,16:50:99:0|1:128055734_T_C:204,0,641:128055734	1	0	9	0
chr3	129572861	129572861	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon14:c.G2918A:p.R973Q	.	415	1099	7	1	0	9	0.00407793	.	.	.	697827	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.291	.	0.0002	0.00179712	0.0049	9.879e-05	0.0341	0	0	0.0002	0.0023	0.0114	0.0040685	629	154602	rs200818763	0.0015	0.0015	0.0013	0.0018	0.0250	0.0015	0.0015	0.0238	0.0233	0.0002	0.0250	0	5.038e-05	0	0.0019	7.105e-05	0.0008	0.0115	0.0011	0.0011	0.0009	0.0012	0.0093	0.0009	0.0009	0.0072	0.0064	0.0002	0	0.0065	0	0.0004	0	0.0034	5.881e-05	0.0019	0.0093	0.519	0.07283	T	0.559	0.09144	T	0.988	0.62325	D	0.669	0.53077	P	0.465473	0.12341	N	0.729376	0.957793	0.38042	D	0.55	0.14455	N	-0.98	0.75789	T	-0.66	0.19085	N	0.133	0.12913	-0.7843	0.56059	T	0.224	0.58792	T	10	0.004443109	0.00091	T	.	.	.	0.291	0.61040	.	.	0.790132611809	0.78818	0.40785569487221485	0.40701	0.362600631993	0.37909	0.301657795906	0.10647	T	0.110802	0.42579	T	-0.396626	0.02436	T	-0.318817	0.42704	T	0.0218738611491707	0.00894	T	0.762524	0.38803	T	0.09349826	0.21960	0.053922188	0.09175	0.09349826	0.21960	0.053922188	0.09175	-3.723	0.19658	T	.	.	0.072	0.04436	B	.	.	2.862929	0.37831	20.6	0.99861126366173025	0.94002	0.13007	0.17609	N	AEFDBCI	0.086086	0.17454	N	-0.160885410067365	0.34772	1.988922	-0.19897060533841	0.31574	1.788196	0.99999717894221	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.22	0.49153	0.196000	0.16979	1.727000	0.28301	0.580000	0.29708	0.036000	0.20778	0.725000	0.26378	0.820000	0.38637	0.0:0.9178:0.0:0.0822	11.613	0.50330	538	0.73119	IPT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	883.43	81	chr3	129572861	.	C	T	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=427;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.267;SOR=0.35	GT:AD:DP:GQ:PL	0/1:34,37:71:99:895,0,873	9	0	1	0
chr3	130388639	130388639	A	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A1921C:p.N641H,COL6A5:NM_153264:exon6:c.A1921C:p.N641H	.	423	1087	12	0	0	12	0.00548948	.	.	.	708566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0092	0.00778754	0.0056	0.0237	0.0026	0.0017	0	0.0063	0.0053	0.0007	0.0017335	268	154602	rs9882852	0.0039	0.0038	0.0041	0.0037	0.0197	0.0038	0.0038	0.0185	0.0179	0.0197	0.0035	0.0131	0	0.0004	0.0104	0.0036	0.0050	0.0009	0.0090	0.0090	0.0095	0.0085	0.0224	0.0086	0.0085	0.0212	0.0207	0.0224	0	0.0056	0.0130	0.0002	9.418e-05	0.0068	0.0040	0.0147	0.0002	0.161	0.23631	T	0.592	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.57	0.17210	N	0.12	0.11054	-0.9508	0.40833	T	0.091	0.34901	T	9	0.0036398768	0.00066	T	.	.	.	0.259	0.57090	.	.	0.250579442822	0.24687	0.2226003717683548	0.22175	0.0316227003221	0.03274	0.223733201623	0.01537	T	0.056926	0.30423	T	-0.553692	0.00277	T	-0.551197	0.17211	T	0.020721037765797	0.00772	T	0.0273973	0.00168	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.	.	-2.006545	0.00099	0.002	0.53234945180902271	0.04900	0.00848	0.03390	N	AEFBI	0.053549	0.09658	N	-1.72050857654779	0.00771	0.03332645	-1.76460461862173	0.00879	0.03930616	0.999999999884141	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	-11.1	0.00116	-5.926000	0.00109	-9.933000	0.00759	-0.145000	0.12313	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.303:0.2122:0.1649:0.3199	0.141	0.00077	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013105	0.006024	0.039474	0.004132	0.000000	0.000000	0.014563	0.000000	0.05	564.43	34	chr3	130388639	.	A	C	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.088;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.275;SOR=0.527	GT:AD:DP:GQ:PL	0/1:19,22:41:99:576,0,466	9	0	1	0
chr3	130406152	130406152	A	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon16:c.A4402T:p.I1468F,COL6A5:NM_153264:exon16:c.A4402T:p.I1468F	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0581823579587	.	0.00119808	0.0022	0	0.0024	0	0	0	0	0.0054	0.0003234	50	154602	rs572953732	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0.0012	9.277e-06	0.0001	0.0052	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.087e-05	5.744e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.099	0.30656	T	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.92	0.96078	D	-2.33	0.51646	N	0.171	0.18239	-0.2761	0.75646	T	0.684	0.89069	D	9	0.011065245	0.00243	T	0.058182	0.67229	D	0.221	0.51721	0.365	0.37199	0.19670166235	0.19296	0.8115270196096501	0.81107	0.0465425490697	0.05065	0.372021436691	0.21122	T	0.495664	0.81828	T	-0.356438	0.04336	T	-0.282718	0.46526	T	0.0673356515345679	0.08272	T	0.713029	0.32487	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18746	B	.	.	-0.097202	0.03657	0.733	0.71794698634697707	0.09750	0.03161	0.08131	N	AEFBI	0.110828	0.21963	N	-1.4398460910077	0.02298	0.1013036	-1.58225447984796	0.01764	0.08023838	0.370818717723536	0.19868	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	-8.77	0.00715	-1.334000	0.02771	-3.785000	0.02538	-0.657000	0.04367	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.1518:0.5456:0.3026:0.0	12.629	0.56006	373	0.84140	.	.	.	.	.	.	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	0.001471	0.000000	0.000000	0.004673	0.000000	0.000000	0.000000	0.000000	0.05	1412.43	124	chr3	130406152	.	A	T	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.568;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-1.49;SOR=0.701	GT:AD:DP:GQ:PL	0/1:91,67:158:99:1424,0,2275	9	0	1	0
chr3	130440227	130440227	T	G	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon35:c.T5889G:p.D1963E,COL6A5:NM_153264:exon35:c.T5889G:p.D1963E	.	424	1093	5	0	0	5	0.00228206	.	.	.	2327914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0134270529388	0.0003	.	0.0004	0	0.0005	0	0	0.0005	0	0.0001	0.000304	47	154602	rs199671434	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0029	0.0024	5.977e-05	0.0001	0.0031	0	1.875e-05	0.0042	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0003	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.55e-05	0.0017	0	9.407e-05	0.0032	0.0003	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	0.000742	0.42006	D	0.000000	0.987727	0.24487	N	.	.	.	2.52	0.14160	T	0.3	0.04091	N	0.809	0.80473	0.337	0.88131	D	0.839	0.94610	D	10	0.3644542	0.52990	T	0.013427	0.32827	T	0.683	0.88396	.	.	0.187945064343	0.18414	0.5245235958826039	0.52376	0.237101060126	0.26249	0.493866115808	0.37975	T	0.153834	0.49485	T	-0.259966	0.12904	T	-0.298821	0.44848	T	0.121479484448935	0.14574	T	0.712729	0.32446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.903	0.82925	P	.	.	2.600983	0.33759	19.43	0.90361770313002432	0.19625	0.66784	0.33199	D	AEFBI	0.217934	0.34300	N	0.238034878260668	0.53050	3.475742	0.0980241193923051	0.44451	2.726487	0.00485022951396642	0.10735	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	0.391	0.15506	0.752000	0.26027	-0.841000	0.07217	0.665000	0.62972	0.780000	0.29473	0.006000	0.19429	0.790000	0.37311	0.0:0.4557:0.0:0.5443	10.098	0.41659	369	0.84396	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.008621	0.003049	0.003788	0.05	1404.43	36	chr3	130440227	.	T	G	1404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.863;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.064;SOR=0.693	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1416,0,1427	9	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.012085	0.015152	0.006793	0.020468	0.000000	0.008621	0.015244	0.018939	0.05	386.43	34	chr3	132619490	.	G	C	386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=368;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-0.649;SOR=0.719	GT:AD:DP:GQ:PL	0/1:39,20:59:99:398,0,907	9	0	1	0
chr3	134370916	134370916	C	T	exonic	AMOTL2	.	nonsynonymous SNV	AMOTL2:NM_001278683:exon2:c.G692A:p.R231Q,AMOTL2:NM_001278685:exon2:c.G518A:p.R173Q,AMOTL2:NM_001363943:exon2:c.G518A:p.R173Q,AMOTL2:NM_016201:exon2:c.G518A:p.R173Q	.	383	1126	12	1	0	14	0.00617829	.	.	.	697852	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.066	.	0.0079	0.00479233	0.0088	0.0020	0.0149	0.0003	0.0121	0.0091	0.0107	0.0098	0.0079236	1225	154602	rs143351962	0.0094	0.0094	0.0095	0.0093	0.0133	0.0092	0.0092	0.0124	0.0121	0.0018	0.0133	0.0010	0.0003	0.0112	0.0096	0.0101	0.0076	0.0081	0.0076	0.0076	0.0076	0.0076	0.0112	0.0072	0.0071	0.0105	0.0102	0.0017	0.0077	0.0097	0.0006	0.0004	0.0112	0.0068	0.0112	0.0033	0.0085	0.007	0.63226	D	0.161	0.65728	T	0.876	0.48154	P	0.176	0.35644	B	0.040699	0.24030	N	0.445315	0.599275	0.30954	N	0.205	0.09354	N	2.53	0.14038	T	-0.77	0.22727	N	0.288	0.36779	-1.0636	0.10878	T	0.009	0.03183	T	10	0.003624171	0.00066	T	.	.	.	0.066	0.19193	.	.	0.348764635752	0.34483	0.24350740480917024	0.24264	0.656460946308	0.58643	0.410059809685	0.26465	T	0.005554	0.05002	T	-0.592881	0.00161	T	-0.609473	0.12027	T	0.0415794078900116	0.03978	T	0.894111	0.63286	D	0.16526362	0.36787	0.07458039	0.16329	0.16526362	0.36786	0.07458039	0.16329	-7.108	0.55746	T	.	.	0.093	0.21913	B	.;.;.;.;.	.;.;.;.;.	5.088022	0.84947	28.5	0.99945897744011702	0.99901	0.52048	0.29039	D	AEFDBCI	0.161770	0.28786	N	-0.053959694986486	0.39426	2.324796	0.00618762254580807	0.40002	2.380421	0.999999994853745	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.657601	0.63696	0	.	.	4.52	3.36	0.37579	3.208000	0.50816	5.294000	0.48217	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.964000	0.52637	0.0:0.5868:0.0:0.4132	3.329	0.06664	767	0.49651	.;.;.;.;.	.	.	.	.	rs143351962	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.002717	0.000000	0.000000	0.025862	0.006098	0.011364	0.05	788.43	38	chr3	134370916	.	C	T	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=374;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.59;SOR=0.904	GT:AD:DP:GQ:PL	0/1:23,29:52:99:800,0,549	9	0	1	0
chr3	141540573	141540573	C	T	exonic	RASA2	.	nonsynonymous SNV	RASA2:NM_001303245:exon5:c.C491T:p.T164M,RASA2:NM_001303246:exon5:c.C491T:p.T164M,RASA2:NM_006506:exon5:c.C491T:p.T164M	.	.	.	.	.	.	.	.	.	.	.	1466376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0905852459467	.	.	1.661e-05	0	0	0	0	1.51e-05	0	6.093e-05	1.29e-05	2	154602	rs752317451	1.986e-05	1.984e-05	2.044e-05	1.927e-05	0.0002	1.393e-05	1.205e-05	7.131e-05	5.487e-05	8.976e-05	0	0	2.527e-05	0	0.0002	1.17e-05	0	0.0001	1.973e-05	1.97e-05	2.571e-05	1.346e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.005	0.63226	D	0.014	0.62352	D	.	.	.	.	.	.	0.000002	0.62929	D	0.099487	0.999664	0.48141	D	2.295	0.65404	M	-0.91	0.75001	T	-2.08	0.49684	N	0.704	0.71143	0.013	0.82514	D	0.517	0.81937	D	10	0.7293406	0.74190	D	0.090585	0.75547	D	0.340	0.66202	0.359	0.36222	0.913956948428	0.91309	0.4640061514660106	0.46319	0.862503557744	0.69024	0.728429913521	0.71276	T	0.312273	0.68410	T	-0.0808681	0.39574	T	-0.17241	0.57222	T	0.76174122095108	0.43951	D	0.941006	0.77964	D	.	.	.	.	.	.	.	.	-8.161	0.62162	D	.	.	0.117	0.26514	B	.;.	.;.	5.311381	0.89163	29.9	0.9982497483120647	0.90764	0.89634	0.50224	D	AEFGBI	0.460158	0.51046	N	0.610706741577545	0.73852	6.034113	0.596072956350132	0.74656	6.174616	0.999999725866146	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.87	4.99	0.65942	4.808000	0.62274	5.987000	0.52266	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1567:0.8433:0.0:0.0	13.513	0.60978	816	0.41767	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1066.43	34	chr3	141540573	.	C	T	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=3.43;SOR=0.74	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1078,0,1533	9	0	1	0
chr3	148883651	148883651	C	T	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.C817T:p.R273W	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00672732692278	.	.	4.126e-05	0	0.0002	0	0	1.501e-05	0	0.0001	3.88e-05	6	154602	rs767770938	3.352e-05	3.352e-05	1.089e-05	5.638e-05	0.0004	2.566e-05	2.312e-05	0.0003	0.0003	2.988e-05	0	0	0	0	0	8.993e-06	1.656e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.941e-05	0	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.997	0.70673	D	0.873	0.61978	P	0.000123	0.49741	N	0.176841	0.999941	0.19238	N	2.99	0.85699	M	2.58	0.13434	T	0.08	0.06026	N	0.176	0.18920	-1.1285	0.01855	T	0.046	0.19559	T	10	0.44305465	0.58223	T	0.006727	0.17784	T	0.188	0.46444	0.751	0.88155	0.295623431141	0.29171	0.49462316844897364	0.49383	0.122508711524	0.13806	0.230685651302	0.02019	T	0.195965	0.55220	T	-0.484453	0.00697	T	-0.611694	0.11847	T	0.761632025241852	0.43945	D	0.741926	0.36121	T	0.25920334	0.48973	0.13097544	0.31461	0.25920334	0.48973	0.13097544	0.31460	-9.933	0.73510	D	.	.	0.195	0.41678	B	.	.	0.983771	0.13613	10.15	0.95630914823619384	0.27413	0.00844	0.03380	N	AEFBI	0.085829	0.17401	N	-1.07221966635949	0.07158	0.3317207	-1.41958055830655	0.03056	0.1418555	0.999494509542803	0.40007	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	-9.53	0.00484	-0.838000	0.04480	-1.131000	0.06238	-1.244000	0.01310	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5054:0.1079:0.1621:0.2246	2.328	0.03969	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	606.43	34	chr3	148883651	.	C	T	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.69;DP=373;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.334;SOR=0.352	GT:AD:DP:GQ:PL	0/1:43,24:67:99:618,0,1193	9	0	1	0
chr3	149212616	149212616	C	G	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon2:c.G229C:p.D77H	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	51216	not_specified|Deficiency_of_ferroxidase	MedGen:CN169374|Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.897	0.186454501028	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs200683433	6.841e-05	6.84e-05	3.948e-05	9.764e-05	0.0007	5.713e-05	5.326e-05	0.0005	0.0005	0	4.472e-05	0	0	0	0	3.328e-05	4.968e-05	0.0007	3.94e-05	3.937e-05	3.854e-05	4.029e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000031	0.55875	D	0.157878	0.999968	0.52935	D	.	.	.	-5.64	0.99249	D	-5.77	0.92648	D	0.869	0.86618	1.075	0.98733	D	0.980	0.99372	D	10	0.93161064	0.92498	D	0.186455	0.85876	D	0.897	0.97097	.	.	0.964204897991	0.96382	0.9528067750625184	0.95264	0.516374766168	0.49524	0.370301783085	0.20875	T	.	.	.	0.163883	0.70560	D	0.373476	0.91198	D	0.820427298545837	0.47804	D	0.966603	0.87805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.80930	A	.;.	.;.	3.716501	0.53084	23.3	0.99526622926848329	0.69591	0.96976	0.71977	D	AEFDGBI	0.801501	0.72719	D	0.649702787519299	0.76351	6.47019	0.557956239683852	0.71954	5.733961	0.999997656337371	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.42	4.55	0.55429	1.099000	0.30625	2.272000	0.31837	0.599000	0.40250	0.244000	0.24789	0.981000	0.30433	0.996000	0.76049	0.0:0.841:0.0:0.159	11.177	0.47832	900	0.24599	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	760.43	33	chr3	149212616	.	C	G	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.742;DP=361;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.29;SOR=0.317	GT:AD:DP:GQ:PL	0/1:18,30:48:99:772,0,472	9	0	1	0
chr3	158732255	158732255	A	T	exonic	RARRES1	.	nonsynonymous SNV	RARRES1:NM_002888:exon1:c.T161A:p.V54D,RARRES1:NM_206963:exon1:c.T161A:p.V54D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0151586337658	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341309031	1.636e-06	2.736e-06	3.197e-06	0	8.322e-05	2.7e-07	1e-07	1.477e-05	6.15e-06	8.322e-05	0	0	0	0	0	0	0	0	6.584e-06	6.569e-06	0	1.348e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.025	0.50676	D	0.009	0.66756	D	0.054	0.22658	B	0.058	0.26451	B	0.016006	0.28092	U	0.326133	1	0.08975	N	0.69	0.16971	N	0.94	0.43672	T	-0.6	0.19297	N	0.258	0.30574	-1.0749	0.08369	T	0.041	0.17742	T	10	0.103070796	0.18926	T	0.015159	0.35730	T	0.059	0.16972	0.501	0.59304	0.283761946502	0.27984	0.2616378392552867	0.26076	1.26377591243	0.82109	0.736372351646	0.72439	T	0.002289	0.01691	T	-0.178086	0.24019	T	-0.493584	0.23015	T	0.207687467336655	0.20832	T	0.49515	0.15352	T	0.16459364	0.36676	0.17299736	0.39595	0.16459364	0.36675	0.17299736	0.39594	-6.34	0.53011	T	.	.	0.165	0.39999	B	.;.	.;.	0.782466	0.11529	8.124	0.93731520838831461	0.23661	0.02081	0.06189	N	ALL	0.062042	0.11902	N	-1.26789589116234	0.04069	0.1829287	-1.35653351072764	0.03729	0.1745629	0.999999999989221	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.55	-2.21	0.06581	-0.991000	0.03839	-1.187000	0.06080	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3733:0.0:0.3932:0.2335	2.360	0.04042	915	0.20917	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	261.43	32	chr3	158732255	.	A	T	261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=302;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.095;SOR=0.991	GT:AD:DP:GQ:PL	0/1:11,10:21:99:273,0,224	9	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S,MECOM:NM_001366466:exon3:c.G460T:p.A154S,MECOM:NM_001366473:exon3:c.G460T:p.A154S,MECOM:NM_004991:exon3:c.G460T:p.A154S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	436	1039	45	2	0	49	0.0230371	.	.	.	3221779	MECOM-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.023098	0.014620	0.000000	0.008621	0.018293	0.018939	0.05	812.43	33	chr3	169143748	.	C	A	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.22;DP=414;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=1.36;SOR=0.56	GT:AD:DP:GQ:PL	0/1:63,39:102:99:824,0,1510	9	0	1	0
chr3	192798532	192798532	C	T	exonic	MB21D2	.	nonsynonymous SNV	MB21D2:NM_178496:exon2:c.G1330A:p.G444R	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00791480007386	0.0002	0.000798722	0.0003	0	0	0	0	0.0002	0	0.0016	0.0002652	41	154602	rs61729336	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0016	0.0015	0	2.236e-05	0	0	0	0.0023	9.712e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	8.714e-05	0.0014	0.0011	2.406e-05	0	0.0001	0	0	0	0	0.0001	0	0.0025	0.179	0.22053	T	0.256	0.23298	T	0.005	0.12996	B	0.0	0.01387	B	0.017586	0.27685	N	0.400204	0.999489	0.47237	D	0.345	0.11182	N	0.94	0.43672	T	-0.59	0.17624	N	0.309	0.34874	-1.0910	0.05367	T	0.076	0.30397	T	10	0.006444514	0.00146	T	0.007915	0.20981	T	0.055	0.15663	0.095	0.01241	0.333154297509	0.32921	0.4449389148584587	0.44411	0.563634758942	0.52789	0.601574242115	0.53126	T	0.012149	0.10726	T	-0.48401	0.00701	T	-0.498102	0.22544	T	0.024443353918944	0.01201	T	0.862614	0.55818	D	0.0773667	0.17556	0.06930461	0.14584	0.0773667	0.17555	0.06930461	0.14584	-3.77	0.20357	T	.	.	0.251	0.48603	B	.	.	3.790537	0.54561	23.5	0.97768950169164803	0.35857	0.97780	0.77079	D	AEFBI	0.532114	0.55211	D	-0.106221902737857	0.37120	2.15519	0.0999211790295869	0.44544	2.734204	0.967556698238284	0.28986	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.756605	0.99741	0	.	.	5.27	5.27	0.73797	3.871000	0.55791	7.717000	0.67122	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.658000	0.32913	0.0:1.0:0.0:0.0	17.908	0.88842	933	0.16026	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1688.43	33	chr3	192798532	.	C	T	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.875;SOR=0.707	GT:AD:DP:GQ:PL	0/1:83,69:152:99:1700,0,1976	9	0	1	0
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1046.67	23	chr3	195779400	.	A	*	1046.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.862;DP=2049;ExcessHet=3.8694;FS=1.938;InbreedingCoeff=-0.243;MLEAC=2;MLEAF=0.125;MQ=58.12;MQRankSum=-12.37;QD=0.87;ReadPosRankSum=2.36;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,130:342:99:.:.:4702,0,8388:.	6	0	2	2
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	48836.3	20	chr3	195779882	.	G	*	48836.3	.	AC=2;AF=0.143;AN=14;DP=2237;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.214;MQ=59.46;MQRankSum=-0.186;QD=25.77;SOR=0.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,155:342:99:.:.:11549,5740,7591:.	5	0	2	3
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1324.85	425	chr3	195780215	.	C	*	1324.85	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.009;DP=5009;ExcessHet=0.2348;FS=10.418;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=51.98;MQRankSum=-8.627;QD=1.8;ReadPosRankSum=-3.111;SOR=1.425	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,39:310:99:0|1:195780165_C_G:893,0,9603:195780165	7	0	1	2
chr3	195780343	195780343	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11237T:p.P3746L,MUC4:NM_001322468:exon15:c.C9797T:p.P3266L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.000638247409133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748424568	2.027e-05	3.448e-05	2.286e-05	1.761e-05	0.0004	1.406e-05	1.21e-05	0.0002	0.0002	0.0004	5.773e-05	0	0	0	0.0002	7.499e-06	8.734e-05	1.272e-05	4.839e-05	0.0002	5.422e-05	4.232e-05	0.0001	2.208e-05	1.59e-05	5.357e-05	3.497e-05	0.0001	0	0	0	0	0	0	1.5e-05	0.0005	0	0.409	0.12632	T	0.095	0.39645	T	.	.	.	.	.	.	0.027698	0.25717	U	0.000000	1	0.08975	N	.	.	.	1.58	0.29085	T	-1.25	0.31576	N	0.111	0.09772	-1.0244	0.22279	T	0.037	0.16029	T	9	0.072273314	0.10767	T	6.38E-4	0.00334	T	0.005	0.00259	.	.	0.0954503805726	0.09146	4.1039059804104833E-4	0.00037	.	.	0.466677963734	0.34225	T	.	.	.	-0.363435	0.03939	T	-0.759825	0.03118	T	0.113204285502434	0.13752	T	0.750125	0.37153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26917	B	.;.	.;.	2.055494	0.26134	17.01	0.78006270095189634	0.12115	0.00743	0.03099	N	AEFDBCI	0.036686	0.04928	N	-1.18517989916406	0.05224	0.237632	-1.27010662600501	0.04840	0.2292781	1.45609271737472E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.885	0.885	0.18323	0.374000	0.20232	0.122000	0.14930	0.276000	0.18584	0.049000	0.21372	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	7.307	0.25629	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5213.43	417	chr3	195780343	.	G	A	5213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=4210;ExcessHet=0;FS=11.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=-2.374;QD=16.24;ReadPosRankSum=0.058;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,138:321:99:0|1:195780343_G_A:5225,0,7001:195780343	9	0	1	0
chr3	195780359	195780359	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11221G:p.H3741D,MUC4:NM_001322468:exon15:c.C9781G:p.H3261D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000626011924686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318392332	0	2.22e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.529e-05	0.0002	3.006e-05	0	7.787e-05	2.54e-06	9.5e-07	1.288e-05	4.82e-06	7.787e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.637	0.07037	T	.	.	.	.	.	.	0.031920	0.25103	N	0.000000	1	0.08975	N	.	.	.	1.51	0.32958	T	0.27	0.07444	N	0.304	0.34336	-1.0076	0.27665	T	0.029	0.12234	T	9	0.12980741	0.24700	T	6.26E-4	0.00303	T	0.016	0.02506	.	.	0.0138822411134	0.00435	4.94242426888132E-4	0.00045	.	.	0.495055109262	0.38139	T	.	.	.	-0.33095	0.06040	T	-0.713163	0.05134	T	0.473602622747421	0.31663	T	0.556944	0.19352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.;.	.;.	0.162351	0.05527	1.988	0.9251521108401296	0.21955	0.01567	0.05119	N	AEFDBCI	0.063010	0.12150	N	-0.88375545174828	0.11229	0.5407527	-1.04941218263124	0.08719	0.4300816	1.89859852668308E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.885	0.885	0.18323	0.441000	0.21325	-1.075000	0.06408	-0.786000	0.03287	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	7.307	0.25629	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5876.43	380	chr3	195780359	.	G	C	5876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=4007;ExcessHet=0;FS=11.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.85;QD=17.7;ReadPosRankSum=-0.293;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,156:332:99:0|1:195780343_G_A:5888,0,6887:195780343	9	0	1	0
chr3	195782158	195782158	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9422A:p.S3141N	.	429	1080	8	0	5	13	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00413666342871	.	.	0.0020	0.0067	0.0053	0.0053	0.0011	0.0023	0	0.0006	0.0003363	52	154602	rs746330856	0.0002	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0006	0.0005	0.0009	0.0003	0.0004	0.0003	0.0006	0.0014	0.0002	0.0004	0.0003	0.0009	0.0041	0.0010	0.0009	0.0021	0.0008	0.0007	0.0016	0.0014	0.0021	0	0.0009	0.0006	0.0005	0.0002	0	0.0005	0	0.0005	0.06	0.37326	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.75	0.21003	N	0.055	0.02658	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0050902963	0.00110	T	0.004137	0.09931	T	0.009	0.00846	.	.	0.0138822411134	0.00435	3.115421126634219E-4	0.00028	.	.	0.588040709496	0.51217	T	.	.	.	-0.376137	0.03295	T	-0.778071	0.02512	T	0.0141998693782046	0.00280	T	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33273	B	.;.	.;.	-0.286937	0.02674	0.344	0.7398967156372207	0.10529	0.00110	0.00700	N	AEFBI	0.069643	0.13794	N	-1.26842644718318	0.04062	0.1826157	-1.3993107211073	0.03260	0.1516938	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.244000	0.08921	-4.607000	0.02072	-3.157000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.066778	0.117647	0.018817	0.016304	0.000000	0.029412	0.068966	0.063218	0.1	260.4	502	chr3	195782158	.	C	T	260.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.23;DP=4045;ExcessHet=0;FS=0;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=57.27;MQRankSum=-8.826;QD=0.58;ReadPosRankSum=6.08;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,36:449:99:0|1:195782158_C_T:268,0,17182:195782158	4	0	1	5
chr3	195782159	195782159	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9421G:p.S3141G	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00399215593514	.	.	0.0021	0.0067	0.0050	0.0053	0.0011	0.0025	0	0.0006	0.0001164	18	154602	rs878957136	0.0003	0.0012	0.0002	0.0003	0.0026	0.0002	0.0002	0.0013	0.0009	0.0007	0.0005	0.0003	0.0002	0.0005	0.0026	0.0002	0.0004	0.0004	0.0007	0.0036	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0012	0	0.0008	0.0005	0	0.0002	0	0.0005	0	0.0004	0.107	0.29554	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31987	T	-0.95	0.25332	N	0.045	0.01740	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0053928494	0.00118	T	0.003992	0.09462	T	0.009	0.00846	.	.	0.0138822411134	0.00435	2.4761697068474513E-4	0.00022	.	.	0.552296519279	0.46182	T	.	.	.	-0.351777	0.04616	T	-0.74308	0.03762	T	0.0136572361789874	0.00254	T	0.471053	0.13966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	-0.357385	0.02376	0.261	0.36881785549618518	0.02398	0.00372	0.01892	N	AEFBI	0.070461	0.13989	N	-1.21758775206701	0.04744	0.214791	-1.34443261781201	0.03871	0.1815001	1.39184038827566E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.121000	0.10618	-2.585000	0.03580	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	3.621	0.07637	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.064167	0.117647	0.010870	0.016129	0.000000	0.029412	0.068966	0.068966	0.1	257.4	502	chr3	195782159	.	T	C	257.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.321;DP=4046;ExcessHet=0;FS=0;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=57.28;MQRankSum=-8.842;QD=0.57;ReadPosRankSum=6.1;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,36:450:99:0|1:195782158_C_T:265,0,17224:195782158	4	0	1	5
chr3	195782200	195782200	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9380A:p.S3127Y	.	426	1061	7	0	28	35	0.00328793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0093742069722	.	.	0.0010	0.0051	0	0.0032	0.0006	0.0009	0	0.0004	.	.	.	rs757354628	1.935e-05	6.326e-05	1.742e-05	2.135e-05	0.0003	1.309e-05	1.1e-05	0.0001	0.0001	0.0002	0	0	0.0003	0	0.0003	7.139e-06	4.163e-05	2.882e-05	4.931e-05	0.0003	4.121e-05	5.784e-05	7.923e-05	2.247e-05	1.615e-05	2.1e-05	1.082e-05	7.923e-05	0	7.193e-05	0	0	0	0	4.644e-05	0	0	0.001	0.78490	D	0.028	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.37	0.34253	T	-1.12	0.28906	N	0.098	0.07949	-1.0471	0.15217	T	0.054	0.22959	T	7	0.014383912	0.00303	T	0.009374	0.24577	T	0.098	0.28162	.	.	0.1749357433	0.17121	1.0570646054035391E-4	0.00009	.	.	0.595713615417	0.52299	T	.	.	.	-0.240659	0.15265	T	-0.583466	0.14236	T	0.115360602736473	0.13971	T	0.884312	0.60710	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.57829	A	.;.	.;.	1.835683	0.23322	15.97	0.66572446463117263	0.08098	0.20911	0.21213	N	AEFBI	0.167029	0.29367	N	-0.725015443842149	0.15320	0.7710517	-0.925726695320293	0.11488	0.5855354	4.08127828342176E-4	0.06860	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	-0.318000	0.09987	-1.062000	0.01615	0.303000	0.25352	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033594	0.064706	0.005102	0.000000	0.000000	0.000000	0.036290	0.030928	0.08333	362.47	477	chr3	195782200	.	G	T	362.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.4;DP=4175;ExcessHet=0;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=58.11;MQRankSum=-11.95;QD=0.85;ReadPosRankSum=-2.795;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,40:428:99:0|1:195782158_C_T:371,0,15189:195782158	5	0	1	4
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3923.74	328	chr3	195782507	.	G	*	3923.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.421;DP=4162;ExcessHet=0.7463;FS=1.13;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-10.59;QD=3.43;ReadPosRankSum=3.35;SOR=0.769	GT:AD:DP:GQ:PL	0/1:255,150:405:99:5250,0,9969	8	0	2	0
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2019.83	399	chr3	195783321	.	A	*	2019.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.633;DP=2468;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=56.98;MQRankSum=1.48;QD=3.37;ReadPosRankSum=-0.792;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:91:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:1371,91,0:195783319	5	1	1	3
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2118.83	391	chr3	195783323	.	G	*	2118.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.523;DP=2447;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=57;MQRankSum=1.65;QD=3.52;ReadPosRankSum=0.527;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:91:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:1371,91,0:195783319	5	1	1	3
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8237.56	269	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	*	8237.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.756;DP=2068;ExcessHet=0;FS=2.648;InbreedingCoeff=0.7802;MLEAC=3;MLEAF=0.15;MQ=53.96;MQRankSum=0.175;QD=16.85;ReadPosRankSum=4.44;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:93:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	8	1	1	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2590.63	269	chr3	195783332	.	T	*	2590.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.628;DP=2091;ExcessHet=0.0072;FS=7.129;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=53.41;MQRankSum=-3.165;QD=3.64;ReadPosRankSum=5.36;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	6	3	1	0
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2541.63	269	chr3	195783335	.	C	*	2541.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.946;DP=2053;ExcessHet=0.0072;FS=7.183;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=52.66;MQRankSum=-2.923;QD=3.62;ReadPosRankSum=5.65;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	6	3	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	6741.53	262	chr3	195783346	.	A	*	6741.53	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.81;DP=1982;ExcessHet=0;FS=0;InbreedingCoeff=0.6581;MLEAC=9;MLEAF=0.75;MQ=54.66;MQRankSum=1.23;QD=8.5;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	2	3	1	4
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5030.64	228	chr3	195783357	.	C	*	5030.64	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.25;DP=1743;ExcessHet=0;FS=1.363;InbreedingCoeff=0.4453;MLEAC=8;MLEAF=0.667;MQ=48.74;MQRankSum=1.28;QD=9.62;ReadPosRankSum=-3.531;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	3	3	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	3934.46	203	chr3	195783367	.	A	*	3934.46	.	AC=6;AF=0.6;AN=10;BaseQRankSum=4.29;DP=1517;ExcessHet=0;FS=0.846;InbreedingCoeff=0.3056;MLEAC=8;MLEAF=0.8;MQ=45.95;MQRankSum=-0.796;QD=8.1;ReadPosRankSum=-3.365;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	2	3	0	5
chr3	195783375	195783375	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.86	184	chr3	195783375	.	G	*	106.86	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.126;DP=1427;ExcessHet=0;FS=5.516;InbreedingCoeff=0.7222;MLEAC=6;MLEAF=0.333;MQ=35.23;MQRankSum=0.385;QD=0.34;ReadPosRankSum=-1.036;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	6	3	0	1
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2039.5	184	chr3	195783379	.	G	*	2039.5	.	AC=6;AF=0.333;AN=18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=0.9208;MLEAC=6;MLEAF=0.333;MQ=45.73;QD=5.63;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	6	3	0	1
chr3	195783380	195783380	T	0	exonic	MUC4	.	.	.	.	765	698	30	28	1	87	0.0580297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	483.38	186	chr3	195783380	.	T	*	483.38	.	AC=5;AF=0.417;AN=12;BaseQRankSum=4.23;DP=1385;ExcessHet=0.0125;FS=6.151;InbreedingCoeff=0.2314;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=0.566;QD=1.21;ReadPosRankSum=-1.068;SOR=0.304	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	3	2	1	4
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1847.3	186	chr3	195783381	.	GTC	*	1847.3	.	AC=4;AF=0.4;AN=10;DP=1382;ExcessHet=0;FS=0;InbreedingCoeff=0.5539;MLEAC=6;MLEAF=0.6;MQ=43.59;QD=7.54;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	3	2	0	5
chr3	195783383	195783383	C	0	exonic	MUC4	.	.	.	.	697	686	76	62	1	201	0.127226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	269.64	183	chr3	195783383	.	C	*	269.64	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.08;DP=1386;ExcessHet=0.0125;FS=5.095;InbreedingCoeff=0.1822;MLEAC=9;MLEAF=0.75;MQ=47.74;MQRankSum=0.566;QD=0.61;ReadPosRankSum=-0.842;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:3343,261,0:195783319	2	3	1	4
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5773.97	686	chr3	195784575	.	C	*	5773.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=2.17;DP=6145;ExcessHet=2.5225;FS=1.103;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.4;MQ=57.09;MQRankSum=-9.307;QD=2.62;ReadPosRankSum=1.3;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,558:777:99:0|1:195784575_C_*:21889,0,6544:195784575	2	0	3	5
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5563.83	658	chr3	195784580	.	T	*	5563.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.239;DP=6780;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.15;MQRankSum=-11.73;QD=2.19;ReadPosRankSum=0.293;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,554:989:99:0|1:195784574_GC_G:14131,0,13879:195784574	4	0	3	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5461.83	652	chr3	195784583	.	C	*	5461.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.267;DP=6748;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.89;QD=2.16;ReadPosRankSum=0.914;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,554:989:99:0|1:195784574_GC_G:14131,0,13879:195784574	4	0	3	3
chr3	195784603	195784603	A	0	exonic	MUC4	.	.	.	.	606	833	68	9	6	92	0.0490868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7463.08	560	chr3	195784603	.	A	*	7463.08	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.895;DP=5841;ExcessHet=2.1085;FS=0;InbreedingCoeff=-0.1776;MLEAC=4;MLEAF=0.286;MQ=57.1;MQRankSum=-7.111;QD=2.84;ReadPosRankSum=0.069;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:228,921:1155:99:.:.:19681,0,7395:.	4	0	3	3
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2334.33	946	chr3	195785314	.	A	AC	2334.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=2.52;DP=6620;ExcessHet=0.2348;FS=5.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=57.4;MQRankSum=0.686;QD=2.05;ReadPosRankSum=2.24;SOR=1.181	GT:AD:DP:GQ:PL	0/1:590,64:654:99:615,0,23595	7	0	2	1
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	218415.0	948	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	218415.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.131;DP=6769;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=57.28;MQRankSum=-0.476;QD=34.33;ReadPosRankSum=1.04;SOR=0.431	GT:AD:DP:GQ:PL	0/1:1,62:653:99:23244,18166,23583	8	0	2	0
chr4	989390	989390	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1549A:p.G517R,SLC26A1:NM_213613:exon4:c.G1549A:p.G517R	.	0	225	1	0	0	1	0.00221729	.	.	.	438636	SLC26A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.142	.	0.0030	0.00299521	0.0019	0.0167	0.0029	0	0	7.288e-05	0	0.0002	0.000815	126	154602	rs187110381	0.0003	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0008	0	0	0	0	8.259e-06	0.0004	0.0002	0.0037	0.0037	0.0038	0.0037	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0008	0	0	0	0	2.94e-05	0.0024	0	0.2	0.20381	T	0.436	0.13480	T	0.539	0.37887	P	0.069	0.27757	B	0.619771	0.10789	N	0.848788	0.999999	0.08975	N	1.65	0.42232	L	-3.2	0.93231	D	0.07	0.06138	N	0.101	0.08366	-0.4215	0.71343	T	0.452	0.78591	T	10	0.0044092834	0.00090	T	.	.	.	0.142	0.37995	0.381	0.39807	0.832957468494	0.83136	0.5589556989401784	0.55822	0.17288253818	0.19474	0.492242485285	0.37749	T	0.050947	0.28740	T	-0.330118	0.06103	T	-0.235937	0.51194	T	0.00272057357846831	0.00028	T	0.783822	0.42110	T	0.044508856	0.07126	0.06248227	0.12232	0.044508856	0.07126	0.06248227	0.12232	-7.131	0.54984	T	0.1900286866858847	0.24880	0.104	0.19639	B	.;.	.;.	1.240278	0.16358	12.49	0.97475505292863807	0.34157	0.18125	0.20130	N	AEFBHCI	0.157149	0.28261	N	-0.584042128959142	0.19429	1.016794	-0.640552696930448	0.18456	0.9859772	0.99984978971285	0.43971	0.615465	0.37627	0	0.588066	0.40923	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.84	3.04	0.34171	0.056000	0.14136	.	.	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.0:0.5794:0.3283:0.0923	7.140	0.24725	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002037	0.005319	0.002740	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1046.43	57	chr4	989390	.	C	T	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=489;ExcessHet=0;FS=3.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.255;SOR=0.806	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1058,0,858	9	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	206.6	131	chr4	2662992	.	G	C	206.6	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.757;DP=1100;ExcessHet=1.5895;FS=233.351;InbreedingCoeff=-0.3891;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.827;SOR=10.823	GT:AD:DP:GQ:PL	0/1:74,25:103:99:104,0,1494	4	0	4	2
chr4	6291313	6291313	A	C	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon5:c.A577C:p.K193Q,WFS1:NM_006005:exon5:c.A577C:p.K193Q	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1498	23	1	0	25	0.00827541	.	.	YES	173818	Autosomal_dominant_nonsyndromic_hearing_loss_6|Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_specified|Wolfram-like_syndrome|Wolfram_syndrome_1|Cataract_41|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:CN169374|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|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,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.223	.	0.0022	0.00219649	0.0041	9.823e-05	0.0006	0.0001	0.0009	0.0038	0.0045	0.0131	0.003771	583	154602	rs41264699	0.0038	0.0038	0.0035	0.0041	0.0119	0.0037	0.0037	0.0113	0.0110	0.0005	0.0011	0.0107	0.0001	0.0009	0.0078	0.0035	0.0034	0.0119	0.0027	0.0026	0.0024	0.0030	0.0079	0.0024	0.0024	0.0059	0.0052	0.0007	0.0011	0.0054	0.0110	0	0.0005	0	0.0030	0.0024	0.0079	0.052	0.39097	T	0.082	0.41573	T	0.913	0.50474	P	0.46	0.46423	P	0.000000	0.84330	D	0.050053	0.717381	0.33581	D	2.105	0.58435	M	-3.46	0.94508	D	-1.38	0.34198	N	0.693	0.69825	-0.3842	0.72521	T	0.267	0.63887	T	10	0.01354751	0.00287	T	.	.	.	0.695	0.88960	.	.	0.999708745645	0.99970	0.7779162348185018	0.77741	.	.	0.60329657793	0.53369	T	0.232688	0.59930	T	0.0206689	0.54471	T	0.267301	0.86438	D	0.0311735213702706	0.02174	T	0.818018	0.47523	T	0.194827	0.41247	0.18014714	0.40796	0.18951099	0.40496	0.15260497	0.35896	-8.994	0.67659	D	0.4012723928888879	0.49303	0.109	0.20819	B	.;.	.;.	3.675613	0.52287	23.2	0.99401278877500232	0.62794	0.84507	0.43589	D	AEFDBI	0.369685	0.45632	N	0.303570476880601	0.56333	3.79771	0.325647134561931	0.57053	3.869722	0.691805258640077	0.22597	0.706548	0.73137	0	0.633656	0.55848	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.72	3.44	0.38486	5.202000	0.65004	3.732000	0.39621	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8346:0.1654:0.0:0.0	10.299	0.42823	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.004076	0.017544	0.000000	0.008621	0.009146	0.041667	0.05	1796.43	38	chr4	6291313	.	A	C	1796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=509;ExcessHet=0;FS=5.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.129;SOR=1.123	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1808,0,1835	9	0	1	0
chr4	6302180	6302180	-	GAC	exonic	WFS1	.	nonframeshift insertion	WFS1:NM_001145853:exon8:c.2385_2386insGAC:p.D797_V798insD,WFS1:NM_006005:exon8:c.2385_2386insGAC:p.D797_V798insD	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1484	35	2	1	40	0.0129697	.	.	.	54621	WFS1-related_disorder|not_specified|not_provided	MONDO:MONDO:0700293,MedGen:CN379391|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0019	0.0003	0.0006	0	0.0012	0.0013	0	0.0076	0.00073	19	26028	rs1414522372	0.0014	0.0014	0.0011	0.0017	0.0092	0.0014	0.0014	0.0087	0.0085	0.0001	0.0011	0.0012	0	0.0008	0.0061	0.0009	0.0017	0.0092	0.0012	0.0012	0.0010	0.0015	0.0079	0.0011	0.0010	0.0059	0.0052	0.0003	0	0.0025	0.0014	0.0002	0.0008	0.0136	0.0011	0.0019	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006552	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.011364	0.05	2110.39	95	chr4	6302180	.	G	GGAC	2110.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.759;DP=1093;ExcessHet=0;FS=6.955;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.475;SOR=1.299	GT:AD:DP:GQ:PL	0/1:65,55:122:99:2122,0,2510	9	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:92,27:119:99:146,0,2058	1	0	9	0
chr4	8441412	8441412	C	G	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_152544:exon1:c.C590G:p.T197R	.	427	1009	83	3	0	89	0.0422402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00858626	0.0287	0.0080	0.0065	0.0058	0.0031	0.0195	0.0260	0.0450	0.0037839	585	154602	rs112997829	0.0105	0.0100	0.0098	0.0112	0.0346	0.0104	0.0103	0.0335	0.0331	0.0047	0.0060	0.0151	0.0001	0.0019	0.0304	0.0095	0.0109	0.0346	0.0085	0.0085	0.0080	0.0090	0.0288	0.0081	0.0080	0.0249	0.0234	0.0056	0.0493	0.0099	0.0127	0.0002	0.0012	0.0204	0.0094	0.0118	0.0288	0.447	0.09075	T	0.378	0.16086	T	.	.	.	.	.	.	0.121706	0.02731	N	1.885000	1	0.08975	N	0.955	0.23872	L	2.2	0.18570	T	-1.36	0.33798	N	0.043	0.01577	-1.0113	0.26510	T	0.027	0.11574	T	8	0.002782017	0.00044	T	.	.	.	0.028	0.06331	.	.	.	.	0.3895442264070437	0.38869	0.0237363171192	0.02403	0.470437943935	0.34740	T	0.006277	0.05717	T	-0.596178	0.00154	T	-0.604077	0.12471	T	0.00130142170890971	0.00013	T	0.359464	0.08250	T	0.03544278	0.04172	0.06397814	0.12754	0.03544278	0.04171	0.06397814	0.12754	-4.308	0.28288	T	.	.	0.087	0.11220	B	.	.	0.493478	0.08624	5.396	0.77617184845155829	0.11951	0.02881	0.07661	N	AEFDBCI	0.028691	0.02576	N	-0.716175274960565	0.15567	0.7856458	-0.836457000307403	0.13614	0.7071644	0.999956225536474	0.48110	0.542737	0.22433	0	0.484254	0.07192	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.1	1.29	0.20717	0.469000	0.21779	0.422000	0.18230	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.567:0.3378:0.0952	7.467	0.26500	949	0.11373	.	RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|ACOX3|RP11-774O3.3|RP11-774O3.3	Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs112997829	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	0.016710	0.000000	0.007353	0.012048	0.000000	0.000000	0.023529	0.021277	0.1	2880.14	39	chr4	8441412	.	C	G	2880.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=571;ExcessHet=0.2348;FS=0.944;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.879;SOR=0.614	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1411,0,1588	8	0	2	0
chr4	8604114	8604114	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.G602A:p.S201N,CPZ:NM_001014447:exon4:c.G635A:p.S212N,CPZ:NM_001014448:exon4:c.G224A:p.S75N	.	422	1078	21	1	0	23	0.0105553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0007	0.000599042	0.0016	0.0002	0.0020	0.0002	0	0.0020	0.0119	0.0015	0.0010284	159	154602	rs143281934	0.0012	0.0012	0.0012	0.0012	0.0247	0.0012	0.0011	0.0214	0.0201	0.0008	0.0010	0.0005	2.557e-05	0	0.0247	0.0012	0.0026	0.0009	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0016	0.0009	0	0	0.0136	0.0011	0.0052	0.0012	0.146	0.26519	T	0.137	0.36233	T	0.384	0.62325	B	0.175	0.50320	B	0.000000	0.84330	D	0.045184	0.999989	0.81001	D	2.325	0.66631	M	2.71	0.12055	T	-1.73	0.41046	N	0.717	0.77319	-1.0816	0.07041	T	0.055	0.23224	T	10	0.049276263	0.04494	T	.	.	.	0.102	0.29158	.	.	0.12205267543	0.11705	0.7750065254046804	0.77450	0.0119562494759	0.01133	0.662676036358	0.61792	T	0.053015	0.29325	T	-0.401507	0.02263	T	-0.384891	0.35148	T	0.196342617273331	0.20211	T	0.758124	0.38180	T	0.52383	0.68479	0.47627032	0.69653	0.52383	0.68480	0.47627032	0.69654	-9.192	0.68924	D	0.2593065449522952	0.35027	0.317	0.55978	B	.;.;.	.;.;.	3.651758	0.51831	23.2	0.99622072563463493	0.75473	0.81987	0.41287	D	AEFDBHCI	0.784555	0.71520	D	0.293067813208489	0.55797	3.743764	0.311107533820842	0.56190	3.782178	0.999999838434281	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	3.86	0.43689	5.780000	0.68607	8.162000	0.76739	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.937	0.79512	982	0.03397	Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020855	0.010417	0.020492	0.058824	0.050000	0.017241	0.006211	0.007634	0.05	1053.43	61	chr4	8604114	.	G	A	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.308;SOR=0.757	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1065,0,996	9	0	1	0
chr4	9211747	9211747	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1091C:p.S364T	.	1174	336	2	10	0	22	0.0317003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00494424693079	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767608503	0.0002	0.0082	0.0003	0.0002	0.0078	0.0002	0.0001	0.0034	0.0023	0.0078	0	0	0.0002	0	0.0031	0.0001	0	0.0006	5.137e-05	0.0033	0.0001	0	9.074e-05	0	0	.	.	0	0	0	0	0	0	0	9.074e-05	0	0	0.076	0.34269	T	0.054	0.48855	T	.	.	.	.	.	.	0.028604	0.25577	N	0.364420	1	0.81001	D	1.835	0.48228	L	1.44	0.32722	T	-1.96	0.45404	N	0.159	0.16586	-1.0508	0.14175	T	0.063	0.26244	T	6	0.003203094	0.00054	T	0.004944	0.12442	T	0.081	0.23632	.	.	0.115124310173	0.11017	0.003919566913084639	0.00366	.	.	0.562705755234	0.47649	T	0.008268	0.07601	T	-0.704426	0.00034	T	-0.640815	0.09609	T	0.0273817175275639	0.01599	T	0.671133	0.27986	T	0.13559984	0.31465	0.17054746	0.39172	0.13559984	0.31465	0.17054746	0.39171	-6.914	0.53403	T	.	.	0.119	0.24430	B	.;.	.;.	2.086132	0.26537	17.15	0.96272064017356607	0.29254	0.17629	0.19919	N	AEFI	0.075364	0.15131	N	-0.536111108855572	0.20921	1.106491	-0.696549762316435	0.17046	0.9046486	1.109225597663E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.028000	0.13533	.	.	-0.732000	0.03721	0.048000	0.21332	0.000000	0.08366	0.226000	0.22626	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	40.95	.	chr4	9211747	.	G	C	40.95	.	AC=2;AF=0.333;AN=6;DP=55;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=40;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	7
chr4	15688379	15688381	TTG	-	exonic	FAM200B	.	nonframeshift deletion	FAM200B:NM_001145191:exon2:c.1402_1404del:p.L469del	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	0.0002	0	0.0025	0	0	0	0	0.0003	4.53e-05	7	154602	rs575501826	0.0003	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0007	6.34e-05	0.0004	0	0	0	0.0005	0.0002	0.0004	0.0009	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	0	6.533e-05	0	0	0	0	0.0002	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3281.39	101	chr4	15688378	.	ATTG	A	3281.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=813;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.96;SOR=0.742	GT:AD:DP:GQ:PL	0/1:99,86:185:99:3293,0,3852	9	0	1	0
chr4	48483767	48483767	C	T	exonic	SLC10A4	.	nonsynonymous SNV	SLC10A4:NM_152679:exon1:c.C206T:p.T69M	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	0.00658946	0.0165	0	0	0	.	0	0	0.0220	0.0009508	147	154602	rs374329024	0.0010	0.0009	0.0005	0.0014	0.0165	0.0009	0.0009	0.0157	0.0154	0	3.246e-05	0	3.167e-05	0	0.0005	7.57e-06	0.0010	0.0165	0.0007	0.0007	0.0005	0.0010	0.0218	0.0006	0.0006	0.0184	0.0171	7.224e-05	0	0	0	0.0002	0	0	0	0	0.0218	0.003	0.68238	D	0.011	0.64786	D	0.047	0.21998	B	0.007	0.12992	B	0.047410	0.23347	N	0.350966	1	0.08975	N	0.975	0.24501	L	2.99	0.09262	T	0.29	0.04161	N	0.16	0.16725	-0.9913	0.32270	T	0.015	0.06042	T	10	0.0021141768	0.00030	T	.	.	.	0.093	0.26882	0.136	0.04008	0.0806252709748	0.07271	0.29371811127618297	0.29284	1.67667789965	0.89930	0.818591594696	0.84812	D	0.004709	0.04123	T	-0.630224	0.00095	T	-0.665076	0.07928	T	0.0656927094233596	0.08033	T	0.612939	0.23352	T	0.042607393	0.06493	0.11360012	0.27418	0.042607393	0.06493	0.11360012	0.27417	-5.823	0.44774	T	.	.	0.119	0.24599	B	.	.	2.420505	0.31122	18.65	0.99688987081169533	0.79775	0.09582	0.15306	N	AEFDBCI	0.034528	0.04293	N	-0.724284994620243	0.15340	0.7722555	-0.709420717616942	0.16726	0.8861795	0.999999965334641	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.09	2.16	0.26663	0.724000	0.25624	0.857000	0.22192	0.464000	0.21668	0.016000	0.19238	0.004000	0.18990	0.665000	0.33109	0.2112:0.3766:0.2075:0.2047	0.788	0.00985	211	0.91797	.	.	.	.	.	.	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	0.003811	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	270.43	26	chr4	48483767	.	C	T	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=242;ExcessHet=0;FS=4.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.568;SOR=0.525	GT:AD:DP:GQ:PL	0/1:7,9:16:99:282,0,142	9	0	1	0
chr4	49032572	49032572	G	C	exonic	CWH43	.	nonsynonymous SNV	CWH43:NM_001286791:exon12:c.G1434C:p.M478I,CWH43:NM_025087:exon12:c.G1515C:p.M505I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0779275778063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.047	0.48855	D	0.228	0.30509	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	0.99896	0.45775	D	0.345	0.11182	N	-1.36	0.80125	T	-0.97	0.25770	N	0.799	0.79503	-0.5307	0.67515	T	0.363	0.72392	T	9	0.7994745	0.79371	D	0.077928	0.72886	D	0.414	0.72479	0.731	0.86460	0.50343701615	0.49981	0.5260420039135627	0.52528	0.111390099725	0.12571	0.770817160606	0.77547	T	0.113524	0.43063	T	0.165946	0.70751	D	0.000593857	0.70375	D	0.68201094865799	0.39880	D	0.868913	0.57225	D	0.5129676	0.67852	0.48658457	0.70286	0.5129676	0.67853	0.48658457	0.70286	-5.866	0.45144	T	.	.	0.644	0.71395	P	.;.	.;.	3.764817	0.54042	23.4	0.87183111966883142	0.17046	0.94226	0.60497	D	AEFDGBHCI	0.537288	0.55515	D	-0.0356160171760246	0.40248	2.38691	0.0853970541895103	0.43811	2.675379	0.999999991809582	0.74766	0.55562	0.30534	0	0.615948	0.52940	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.24	5.24	0.72863	4.558000	0.60498	9.545000	0.80969	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	16.788	0.85441	369	0.84396	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2344.43	36	chr4	49032572	.	G	C	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.364;DP=482;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.766;SOR=0.57	GT:AD:DP:GQ:PL	0/1:61,95:156:99:2356,0,1499	9	0	1	0
chr4	79406790	79406790	C	T	exonic	GK2	.	nonsynonymous SNV	GK2:NM_033214:exon1:c.G1411A:p.V471I	.	0	1514	7	1	0	9	0.00296345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0111800432736	0.0002	0.000599042	0.0007	0.0004	8.637e-05	0	0	0.0002	0.0011	0.0039	0.0005757	89	154602	rs148945495	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0003	4.472e-05	0	0	0	0.0007	8.993e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0.0004	0	0	0	0	0	0	5.88e-05	0	0.0039	0.28	0.15509	T	0.263	0.22828	T	0.356	0.33761	B	0.056	0.26147	B	0.000122	0.49741	N	0.131366	0.981534	0.39788	D	2.325	0.66631	M	-2.55	0.89561	D	-0.45	0.14782	N	0.126	0.11912	-0.3171	0.74503	T	0.453	0.78621	T	10	0.015090972	0.00317	T	0.01118	0.28538	T	0.192	0.47115	.	.	0.69393619111	0.69130	0.3800303419956537	0.37918	0.0691553235387	0.07740	0.239516526461	0.02747	T	0.012715	0.11127	T	-0.457909	0.01013	T	-0.432321	0.29673	T	0.0162569067300891	0.00398	T	0.779722	0.41422	T	0.021082154	0.00693	0.029945577	0.01390	0.021082154	0.00693	0.029945577	0.01389	-4.716	0.33598	T	.	.	0.084	0.09868	B	.	.	-0.120041	0.03524	0.670	0.77655687963149789	0.11967	0.39335	0.26190	N	AEFBI	0.069374	0.13729	N	-0.807049122430082	0.13129	0.644668	-0.846823447416531	0.13364	0.6928639	0.483044211727096	0.20801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.11	2.4	0.28568	0.848000	0.27362	-0.093000	0.12034	-1.961000	0.00476	0.220000	0.24536	0.000000	0.08366	0.001000	0.02609	0.0:0.8095:0.0:0.1905	8.754	0.33797	426	0.81110	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1070.43	35	chr4	79406790	.	C	T	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.825;DP=421;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.75;SOR=0.826	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1082,0,1236	9	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,8:28:32:0|1:82485718_G_C:32,0,464:82485718	5	0	5	0
chr4	84635283	84635283	A	T	exonic	CDS1	.	nonsynonymous SNV	CDS1:NM_001263:exon8:c.A742T:p.S248C	.	459	1062	1	0	0	1	0.000470588	.	.	.	3648769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00622328498275	.	0.000199681	3.321e-05	0	0	0	0	4.526e-05	0	6.072e-05	3.23e-05	5	154602	rs547078642	2.264e-05	2.738e-05	2.398e-05	2.13e-05	0.0007	1.638e-05	1.402e-05	0.0002	0.0001	3.204e-05	2.602e-05	0	0	0	0.0007	2.212e-05	3.412e-05	0	1.987e-05	3.29e-05	0	4.072e-05	6.588e-05	5.28e-06	2.47e-06	4.89e-06	1.83e-06	0	0	6.588e-05	0	0	0	0	2.949e-05	0	0	0.246	0.17353	T	0.247	0.23914	T	0.001	0.07471	B	0.006	0.12133	B	0.000007	0.62929	D	0.173592	0.893068	0.35996	D	-0.805	0.01590	N	0.97	0.42502	T	0.71	0.02130	N	0.377	0.41853	-1.0415	0.16860	T	0.045	0.19275	T	10	0.12900963	0.24544	T	0.006223	0.16317	T	0.099	0.28413	.	.	0.445410361449	0.44164	0.7470777382882654	0.74653	0.258046350678	0.28359	0.755693137646	0.75289	T	0.01695	0.13915	T	-0.219031	0.18123	T	-0.437445	0.29094	T	0.147973150014877	0.16941	T	0.842116	0.51841	T	0.18695782	0.40129	0.1378886	0.32946	0.18695782	0.40128	0.1378886	0.32945	-1.066	0.01075	T	.	.	0.071	0.03811	B	.	.	2.444475	0.31468	18.75	0.88091909445701955	0.17710	0.88758	0.48840	D	AEFBHCI	0.450602	0.50493	N	-0.264350395320764	0.30534	1.70349	0.0228895929767658	0.40781	2.439252	0.999999178095996	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	5.263000	0.65324	11.195000	0.88811	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.856	0.78759	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	601.43	35	chr4	84635283	.	A	T	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.086;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.284;SOR=0.585	GT:AD:DP:GQ:PL	0/1:45,28:73:99:613,0,1184	9	0	1	0
chr4	87114964	87114964	G	A	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.G1024A:p.V342I,AFF1:NM_001313959:exon11:c.G2110A:p.V704I,AFF1:NM_005935:exon11:c.G2110A:p.V704I,AFF1:NM_001166693:exon12:c.G2131A:p.V711I	.	9	1465	44	4	0	52	0.017438	.	.	.	698669	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0061	0.0071885	0.0068	0.0018	0.0050	0	0.0009	0.0087	0.0067	0.0095	0.00641	991	154602	rs148578175	0.0069	0.0069	0.0067	0.0071	0.0344	0.0068	0.0067	0.0304	0.0289	0.0015	0.0051	0.0239	2.519e-05	0.0011	0.0344	0.0067	0.0087	0.0111	0.0058	0.0058	0.0058	0.0057	0.0139	0.0055	0.0053	0.0112	0.0103	0.0009	0.0463	0.0076	0.0245	0	0.0007	0.0170	0.0074	0.0085	0.0139	0.36	0.11919	T	0.494	0.11479	T	0.642	0.40458	P	0.136	0.33270	B	0.040227	0.01875	N	2.061550	1	0.08975	N	2.155	0.60227	M	-0.18	0.65747	T	-0.51	0.15986	N	0.277	0.31365	-0.9565	0.39825	T	0.138	0.45545	T	10	0.0039743185	0.00077	T	.	.	.	0.123	0.34020	.	.	0.504113619024	0.50048	0.06630700764151948	0.06569	0.0434929808828	0.04688	0.415149450302	0.27169	T	0.108601	0.42178	T	-0.534162	0.00363	T	-0.532101	0.19077	T	0.00599552393707182	0.00066	T	0.811819	0.46793	T	0.01920801	0.00447	0.024641436	0.00487	0.01920801	0.00447	0.024641436	0.00487	-4.352	0.28900	T	.	.	0.101	0.24123	B	.;.;.	.;.;.	1.791394	0.22773	15.76	0.99000417168050792	0.50127	0.13879	0.18102	N	AEFBCI	0.044556	0.07182	N	-0.349133110690798	0.27303	1.496958	-0.389330192651834	0.25313	1.391345	0.906702912693222	0.26239	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.79	2.64	0.30504	1.031000	0.29773	4.408000	0.43271	0.618000	0.50648	0.001000	0.13787	1.000000	0.68203	0.989000	0.64315	0.2041:0.0:0.2956:0.5003	2.500	0.04349	760	0.50470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.030303	0.021739	0.052632	0.050000	0.051724	0.030488	0.015152	0.05	1052.43	37	chr4	87114964	.	G	A	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.101;DP=395;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.246;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1064,0,1045	9	0	1	0
chr4	87614962	87614962	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2300A:p.S767N	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2291899	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0440600127537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263524662	7.862e-06	7.525e-06	2.821e-06	1.304e-05	2.802e-05	4.22e-06	3.08e-06	3.93e-06	2.84e-06	0	2.802e-05	0	0	0	0	8.342e-06	1.725e-05	0	6.58e-06	6.573e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.101	0.38596	T	0.938	0.52538	P	0.135	0.33210	B	.	.	.	.	0.999927	0.19486	N	1.7	0.43825	L	-2.28	0.87512	D	-1.32	0.32991	N	0.1	0.08227	-0.6415	0.63082	T	0.356	0.71904	T	9	0.112769485	0.21164	T	0.04406	0.61297	D	0.217	0.51112	0.281	0.23642	0.535439087667	0.53195	9.594417420931471E-4	0.00088	.	.	.	.	.	0.087187	0.37888	T	-0.177233	0.24148	T	-0.476874	0.24780	T	0.0688517766612291	0.08489	T	0.276972	0.04759	T	0.14846388	0.33892	0.09478699	0.22453	0.14846388	0.33892	0.09478699	0.22453	-7.664	0.58757	D	.	.	.	.	.	.	.	0.270340	0.06479	2.957	0.44491256909068089	0.03424	0.04855	0.10590	N	AEFGBCI	0.034080	0.04159	N	-0.813233381716828	0.12972	0.6358705	-0.992259929687584	0.09958	0.4985666	0.00263837893053673	0.09592	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.33	1.33	0.20958	-0.199000	0.09493	0.226000	0.16132	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.084	0.19179	500	0.76024	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	677.43	36	chr4	87614962	.	G	A	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.369;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.649;SOR=0.859	GT:AD:DP:GQ:PL	0/1:22,24:46:99:689,0,636	9	0	1	0
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	337.62	10	chr4	87615952	.	GCGA	G	337.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.27;DP=205;ExcessHet=0;FS=0;InbreedingCoeff=0.3502;MLEAC=1;MLEAF=0.056;MQ=59.56;MQRankSum=-3.079;QD=3.01;ReadPosRankSum=-0.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,18:74:99:0|1:87615952_GCGA_G:347,0,2277:87615952	8	0	1	1
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2060.48	9	chr4	87615956	.	TAGCAGC	T	2060.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=202;ExcessHet=1.1394;FS=0.575;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.071;MQ=55.79;MQRankSum=-3.079;QD=12.05;ReadPosRankSum=-0.475;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,18:74:99:0|1:87615952_GCGA_G:346,0,2287:87615952	6	0	1	3
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1559.34	6	chr4	87615962	.	C	*	1559.34	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.42;DP=188;ExcessHet=0.3476;FS=0.585;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.286;MQ=50.32;MQRankSum=-4.222;QD=9.51;ReadPosRankSum=0.124;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,18:74:99:0|1:87615952_GCGA_G:346,0,2287:87615952	5	1	1	3
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase 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	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:97,41:164:99:198,0,1442	2	0	8	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:88,33:121:99:104,0,1639	3	0	7	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	194.97	74	chr4	134199956	.	C	T	194.97	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.043;DP=669;ExcessHet=0.2348;FS=150.836;InbreedingCoeff=-0.2091;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.51;SOR=8.155	GT:AD:DP:GQ:PL	0/1:46,20:66:73:73,0,736	6	0	2	2
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,16:63:99:0|1:140563137_C_G:131,0,1492:140563137	1	0	9	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,16:63:99:0|1:140563137_C_G:131,0,1492:140563137	0	0	9	1
chr4	146442743	146442743	G	C	exonic	SLC10A7	.	nonsynonymous SNV	SLC10A7:NM_032128:exon5:c.C475G:p.L159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00886777179864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.233	0.26233	-1.0093	0.27136	T	0.052	0.21921	T	7	0.06724501	0.09342	T	0.008868	0.23390	T	0.027	0.05988	0.468	0.54052	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.274146	0.11299	T	-0.631568	0.10296	T	0.0675880426437943	0.08309	T	0.205079	0.02403	T	.	.	.	.	.	.	.	.	-3.603	0.17900	T	.	.	0.103	0.18289	B	.	.	0.034547	0.04527	1.223	0.53820714627003785	0.05014	0.07888	0.13878	N	AEFBCI	0.079812	0.16126	N	-1.18768939793637	0.05185	0.2357941	-1.28976330318613	0.04568	0.2157573	0.999850061185884	0.44174	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.05	-7.45	0.01229	0.658000	0.24662	1.343000	0.25751	-0.110000	0.15115	0.000000	0.06391	0.111000	0.22795	0.479000	0.28543	0.157:0.2028:0.4733:0.167	2.812	0.05111	707	0.57054	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	415.43	33	chr4	146442743	.	G	C	415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.218;DP=374;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-0.586;SOR=0.869	GT:AD:DP:GQ:PL	0/1:38,21:59:99:427,0,898	9	0	1	0
chr4	151649549	151649549	A	G	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon10:c.A1508G:p.Y503C,FAM160A1:NM_001109977:exon11:c.A1508G:p.Y503C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.107134147642	.	0.000199681	5.036e-05	0	0	0.0016	0	0	0	0	3.84e-05	1	26028	rs553292974	1.429e-06	1.368e-06	0	2.898e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.724e-05	1.262e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999999	0.58761	D	3.45	0.92227	M	1.14	0.38397	T	-7.22	0.94274	D	0.905	0.90590	-0.4551	0.70231	T	0.261	0.63143	T	9	0.75686824	0.76048	D	0.107134	0.78307	D	0.872	0.96170	0.801	0.92017	0.32714864917	0.32323	0.8992670036402077	0.89898	.	.	0.795173168182	0.81229	T	0.261892	0.63341	T	0.181317	0.72163	D	0.226273	0.84490	D	0.978851795196533	0.72534	D	0.907509	0.67274	D	0.60243064	0.72821	0.57678145	0.75478	0.60243064	0.72822	0.57678145	0.75479	-8.989	0.67626	D	.	.	0.976	0.91121	P	.;.	.;.	4.912091	0.80831	27.4	0.9985076844645937	0.93013	0.98028	0.78995	D	AEFDBHCI	0.934903	0.92897	D	0.838297597019807	0.88431	9.576086	0.78543084697938	0.88762	9.705677	0.999999999994425	0.74766	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.17	5.17	0.70848	8.718000	0.91150	11.250000	0.90713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	15.045	0.71480	322	0.86904	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1389.43	33	chr4	151649549	.	A	G	1389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=445;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.661;SOR=0.481	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1401,0,1832	9	0	1	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	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	0.003528	0.000000	0.002717	0.000000	0.000000	0.000000	0.009202	0.011364	0.05	1120.43	33	chr4	153397308	.	T	G	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.33;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.994;SOR=0.699	GT:AD:DP:GQ:PL	0/1:25,48:73:99:1132,0,506	9	0	1	0
chr4	155854163	155854163	C	T	exonic	ASIC5	.	nonsynonymous SNV	ASIC5:NM_017419:exon3:c.G499A:p.V167M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00998866552893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.082	0.41573	T	0.027	0.19556	B	0.039	0.23607	B	0.020124	0.27106	N	0.299523	0.999999	0.08975	N	0.345	0.11182	N	-0.03	0.63077	T	0.41	0.03407	N	0.099	0.08088	-0.9976	0.30590	T	0.115	0.40831	T	10	0.08508891	0.14330	T	0.009989	0.25990	T	0.056	0.15993	0.532	0.64002	0.107399877778	0.10242	0.33488565483183047	0.33401	0.0129100740628	0.01244	0.241972893476	0.02971	T	0.058681	0.30909	T	-0.224538	0.17379	T	-0.56031	0.16347	T	0.149191706457598	0.17039	T	0.312169	0.06100	T	0.027550003	0.01962	0.048619468	0.07258	0.027550003	0.01961	0.048619468	0.07257	-5.579	0.42600	T	0.1349474907629638	0.14623	0.082	0.08948	B	.	.	0.667031	0.10352	7.082	0.96621314403001768	0.30481	0.06170	0.12153	N	AEFBI	0.043719	0.06945	N	-0.504700697163747	0.21928	1.167278	-0.388621572289735	0.25334	1.392638	0.994661216543945	0.33742	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	1.98	0.25351	0.922000	0.28351	.	.	-0.233000	0.07663	0.882000	0.31029	0.618000	0.25802	0.603000	0.31463	0.0:0.1944:0.0:0.8056	7.675	0.27648	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	34	chr4	155854163	.	C	T	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.212;DP=394;ExcessHet=0;FS=5.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.393;SOR=0.715	GT:AD:DP:GQ:PL	0/1:41,36:77:99:838,0,979	9	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,14:64:99:0|1:168898668_T_C:184,0,1708:168898668	5	0	5	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,14:64:99:0|1:168898668_T_C:184,0,1708:168898668	3	0	7	0
chr4	185373066	185373066	T	C	exonic	LRP2BP	.	nonsynonymous SNV	LRP2BP:NM_001377442:exon5:c.A299G:p.H100R,LRP2BP:NM_001385605:exon5:c.A299G:p.H100R,LRP2BP:NM_001385606:exon5:c.A296G:p.H99R,LRP2BP:NM_001377441:exon6:c.A299G:p.H100R,LRP2BP:NM_001377443:exon6:c.A299G:p.H100R,LRP2BP:NM_018409:exon6:c.A593G:p.H198R,LRP2BP:NM_001377440:exon7:c.A593G:p.H198R,LRP2BP:NM_001385601:exon7:c.A593G:p.H198R,LRP2BP:NM_001385602:exon7:c.A590G:p.H197R,LRP2BP:NM_001385603:exon7:c.A593G:p.H198R,LRP2BP:NM_001385604:exon7:c.A593G:p.H198R	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0441569825441	7.7e-05	.	0.0006	0	8.654e-05	0	0	9.005e-05	0.0011	0.0038	0.0004592	71	154602	rs370147340	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	8.983e-05	0	0	0	0	0.0021	4.433e-05	0.0005	0.0038	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0.0001	0	0	0	0	0	0.0034	0.0001	0	0.0033	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.72	0.50976	T	-6.39	0.91141	D	0.837	0.86618	-0.4837	0.69234	T	0.298	0.66924	T	10	0.10767934	0.20013	T	0.044157	0.61348	D	0.526	0.79947	.	.	0.811935933034	0.81016	0.7998572522109603	0.79939	0.857081204955	0.68784	0.723107039928	0.70499	T	0.24509	0.61433	T	-0.096645	0.36979	T	0.0872438	0.76059	D	0.245826373691438	0.22685	T	0.89611	0.65400	D	0.8943871	0.90887	0.8714756	0.92968	0.8943871	0.90889	0.8714756	0.92968	-11.669	0.83202	D	.	.	0.949	0.87094	P	.;.;.	.;.;.	4.780458	0.77484	26.7	0.99770745562060625	0.85918	0.90688	0.52074	D	AEFBCI	0.717659	0.66910	D	0.782095541402458	0.84974	8.440078	0.780830504458427	0.88428	9.579137	0.999999995857163	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	6.736000	0.74614	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.629	0.84866	947	0.11584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1296.43	33	chr4	185373066	.	T	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.149;DP=578;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.564;SOR=0.815	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1308,0,1863	9	0	1	0
chr4	186271657	186271657	T	C	exonic	F11	.	nonsynonymous SNV	F11:NM_000128:exon3:c.T104C:p.I35T,F11:NM_001354804:exon3:c.T104C:p.I35T	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.169697025058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.87	0.47827	P	0.56	0.49558	P	0.141612	0.18271	N	0.519481	1	0.08975	N	2.885	0.83555	M	-2.51	0.89293	D	-1.8	0.66549	N	0.496	0.55019	0.156	0.85163	D	0.706	0.89900	D	10	0.90724206	0.90089	D	0.169697	0.84745	D	0.535	0.80486	0.819	0.93262	0.997179382917	0.99714	0.8210437408541396	0.82061	0.364402611098	0.38057	0.421573936939	0.28053	T	0.703139	0.91469	D	0.0996717	0.64257	D	-0.094605	0.63811	T	0.922048568725586	0.58199	D	0.847515	0.52873	T	0.5143157	0.67931	0.31995893	0.57953	0.5143157	0.67932	0.31995893	0.57952	-11.531	0.82492	D	0.2471582409110823	0.33469	0.344	0.57504	A	.;.;.	.;.;.	3.264088	0.44655	22.0	0.99132699596529983	0.53302	0.69527	0.34223	D	AEFBI	0.932839	0.92382	D	0.216588279888825	0.52004	3.377357	0.147824346044051	0.47027	2.939205	0.999629863652152	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.464000	0.66451	4.074000	0.41688	0.665000	0.62972	0.469000	0.26714	0.756000	0.26587	0.065000	0.16320	0.0:0.0:0.0:1.0	16.484	0.84016	589	0.68969	PAN/Apple domain|PAN/Apple domain|Apple domain|Apple domain;PAN/Apple domain|PAN/Apple domain|Apple domain|Apple domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1902.43	33	chr4	186271657	.	T	C	1902.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=462;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.592;SOR=0.856	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1914,0,1975	9	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	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	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:58:0|1:189953101_C_T:58,0,193:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:58:0|1:189953101_C_T:58,0,201:189953101	2	0	8	0
chr5	2755123	2755123	G	A	exonic	C5orf38	.	nonsynonymous SNV	C5orf38:NM_001365688:exon3:c.G428A:p.G143D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00476248670423	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255742214	7.688e-06	9.577e-06	4.175e-06	1.123e-05	0.0001	4.13e-06	3.02e-06	6.399e-05	4.869e-05	0	0	0	0	0	0	0	1.691e-05	0.0001	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.05	317.43	35	chr5	2755123	.	G	A	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.096;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-2.506;SOR=0.756	GT:AD:DP:GQ:PL	0/1:37,17:54:99:329,0,979	9	0	1	0
chr5	13721028	13721028	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon71:c.G12251A:p.R4084Q	Ciliary dyskinesia, primary, 3, with or without situs inversus	1	1519	2	0	0	2	0.000657895	.	.	.	221596	Infertility_disorder|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	0.0601748669562	0.0002	0.000399361	7.418e-05	0	0	0	0	0.0001	0	6.057e-05	8.41e-05	13	154602	rs140832239	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	8.944e-05	0	7.559e-05	1.872e-05	0	0.0002	0.0001	5.797e-05	0.0001	0.0001	5.141e-05	0.0002	0.0002	6.509e-05	5.321e-05	0.0001	8.878e-05	2.408e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.002	0.72154	D	.	.	.	0.995	0.67487	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.17	0.60663	M	3.1	0.08283	T	-3.91	0.73042	D	0.538	0.56576	-1.1414	0.01307	T	0.061	0.25310	T	10	0.4306407	0.57467	T	0.060175	0.67912	D	0.291	0.61040	.	.	0.431035450679	0.42721	0.6519883597301571	0.65134	0.304278428197	0.32738	0.498256921768	0.38585	T	0.279173	0.65184	T	-0.319026	0.06977	T	-0.426735	0.30306	T	0.629540503025055	0.37599	D	0.952605	0.81930	D	0.7459842	0.80636	0.66358155	0.80279	0.7459842	0.80637	0.66358155	0.80280	-8.662	0.65497	D	0.6701819666773238	0.74501	0.343	0.56118	A	.	.	3.864491	0.56067	23.7	0.99901546570077426	0.97350	0.98474	0.83158	D	AEFI	0.661117	0.63145	D	0.274142127660098	0.54840	3.648896	0.17796726010219	0.48642	3.077399	0.999855726135282	0.44174	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.18	4.31	0.50718	6.033000	0.70569	5.983000	0.52202	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.9279:0.0:0.0721	14.311	0.65969	804	0.43891	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	.	.	.	.	.	.	.	.	0.05	1398.43	33	chr5	13721028	.	C	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=434;ExcessHet=0;FS=2.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.658;SOR=0.466	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1410,0,1315	9	0	1	0
chr5	16711202	16711202	C	T	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon20:c.G1973A:p.R658Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.169617373823	8.3e-05	.	4.276e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs375527129	3.422e-05	3.42e-05	2.996e-05	3.853e-05	0.0002	2.633e-05	2.376e-05	4.586e-05	3.278e-05	5.975e-05	8.959e-05	0	2.52e-05	1.874e-05	0.0002	2.789e-05	3.314e-05	9.293e-05	1.972e-05	1.971e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.062	0.45318	T	0.966	0.56202	D	0.757	0.56292	P	.	.	.	.	0.999985	0.81001	D	2.38	0.68558	M	-2.25	0.87272	D	-3.1	0.67705	D	0.785	0.78167	0.620	0.92156	D	0.740	0.91105	D	9	0.7279956	0.74104	D	0.169617	0.84740	D	0.743	0.91112	.	.	0.861668090824	0.86033	0.6937109172877793	0.69312	0.315729416879	0.33850	0.546995401382	0.45433	T	0.223343	0.87849	T	0.0568224	0.59213	T	0.12328	0.78453	D	0.72850239276886	0.42132	D	0.981602	0.93790	D	0.5541385	0.70186	0.71197957	0.83007	0.5541385	0.70187	0.71197957	0.83008	-8.665	0.65517	D	.	.	0.155	0.47360	B	.;.;.	.;.;.	5.332591	0.89486	30	0.99956906423829683	0.99981	0.96310	0.68515	D	AEFDGBI	0.596172	0.59044	D	0.622561948521727	0.74602	6.160872	0.587763422607484	0.74062	6.073496	0.999999998729983	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.26	4.19	0.48645	4.136000	0.57766	4.802000	0.44976	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0:0.9181:0.0:0.0819	14.733	0.69016	850	0.35610	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	586.43	39	chr5	16711202	.	C	T	586.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.597;SOR=0.702	GT:AD:DP:GQ:PL	0/1:23,20:43:99:598,0,521	9	0	1	0
chr5	23527360	23527360	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2272A:p.R758S,PRDM9:NM_001376900:exon11:c.C2272A:p.R758S,PRDM9:NM_020227:exon11:c.C2272A:p.R758S	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0157748	7.574e-05	0.0009	0	0	0	0	0	6.089e-05	0.0009573	148	154602	rs112501567	0.0007	0.0021	0.0006	0.0008	0.0035	0.0006	0.0006	0.0029	0.0026	0.0035	0.0014	0.0022	0.0014	0.0004	0.0028	0.0004	0.0013	0.0018	0.0014	0.0020	0.0014	0.0013	0.0026	0.0011	0.0010	0.0010	0.0009	0.0018	0	0.0016	0	0	0.0011	0	0.0014	0	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.15	0.00907	N	1.3	0.35590	T	1.49	0.00747	N	0.044	0.01658	-1.0171	0.24657	T	0.001	0.00438	T	8	0.0039440393	0.00076	T	.	.	.	0.031	0.07369	.	.	0.0611884634855	0.05136	0.03481781596185732	0.03428	0.139674272888	0.15743	0.465482741594	0.34061	T	0.019719	0.15658	T	-0.709207	0.00032	T	-0.765043	0.02935	T	0.00023669731066395	0.00001	T	0.0772923	0.00570	T	0.47630665	0.65676	0.09665705	0.22975	0.47630665	0.65676	0.09665705	0.22975	-0.271	0.00460	T	.	.	0.281	0.51367	B	.	.	0.532115	0.09008	5.790	0.55493317965200339	0.05354	0.00050	0.00389	N	AEFDGBIJ	0.017414	0.00455	N	-1.36982181412534	0.02925	0.1298806	-1.37235076037868	0.03549	0.1657935	0.307357789252236	0.19251	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.65	2.65	0.30588	0.907000	0.28154	-2.751000	0.03399	-0.767000	0.03477	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.534:0.2366:0.0:0.2294	3.486	0.07182	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016437	0.015306	0.013587	0.020492	0.050000	0.025862	0.024540	0.003817	0.05	125.43	146	chr5	23527360	.	C	A	125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=1268;ExcessHet=0;FS=10.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.27;MQRankSum=-4.745;QD=1.12;ReadPosRankSum=-0.898;SOR=2.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:23527360_C_A:137,0,4086:23527360	9	0	1	0
chr5	23527383	23527383	-	CACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT	exonic	PRDM9	.	nonframeshift insertion	PRDM9:NM_001310214:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS,PRDM9:NM_001376900:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS,PRDM9:NM_020227:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS	.	430	1069	8	1	14	24	0.00465549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0031	0.0002	0.0001	0	0.0002	0	0	6.5e-06	1	154602	.	0.0007	0.0025	0.0007	0.0007	0.0069	0.0006	0.0006	0.0050	0.0044	0.0041	0.0016	0.0018	0.0028	0.0003	0.0069	0.0004	0.0014	0.0008	0.0002	0.0032	0.0002	0.0002	0.0004	0.0001	7.705e-05	0.0001	8.887e-05	0.0004	0	0.0004	0	0	0.0003	0	9.923e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1202.39	146	chr5	23527383	.	A	ACACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT	1202.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=1264;ExcessHet=0;FS=2.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.41;MQRankSum=-2.994;QD=21.09;ReadPosRankSum=-0.071;SOR=1.387	GT:AD:DP:GQ:PL	0/1:54,3:58:99:1214,0,1315	9	0	1	0
chr5	33947272	33947272	T	C	exonic	SLC45A2	.	nonsynonymous SNV	SLC45A2:NM_001012509:exon6:c.A1259G:p.N420S,SLC45A2:NM_016180:exon6:c.A1259G:p.N420S	Albinism, oculocutaneous, type IV	0	1521	1	0	0	1	0.000328623	.	.	.	1900102	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.105399602678	.	.	2.471e-05	0	8.639e-05	0	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs747149385	3.01e-05	3.01e-05	2.722e-05	3.3e-05	0.0003	2.281e-05	2.032e-05	6.092e-05	2.767e-05	0	0.0001	0	0	0	0.0003	2.338e-05	6.623e-05	8.115e-05	2.629e-05	2.627e-05	5.14e-05	0	6.549e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0	0.111	0.43085	T	0.097	0.44702	T	0.022	0.35540	B	0.034	0.39041	B	0.000024	0.55875	D	0.185631	0.999945	0.51968	D	1.465	0.36909	L	-3.67	0.95247	D	-1.56	0.62343	N	0.559	0.58373	0.134	0.84776	D	0.716	0.90239	D	10	0.33690852	0.50822	T	0.105	0.78049	D	0.352	0.67326	0.525	0.62967	0.946826179558	0.94626	0.5358164638390676	0.53506	0.0364196431978	0.03852	0.474712610245	0.35330	T	0.356711	0.72352	T	-0.137908	0.30222	T	-0.21017	0.53679	T	0.340211629867554	0.26632	T	0.855414	0.54290	D	0.08557857	0.19857	0.0919989	0.21658	0.08557857	0.19857	0.0919989	0.21657	-3.874	0.25892	T	0.16023554538392695	0.19535	0.068	0.07412	B	.;.;.	.;.;.	2.353175	0.30169	18.35	0.99250970519127668	0.56858	0.95858	0.66456	D	AEFBI	0.704218	0.66000	D	-0.327941972319369	0.28090	1.546549	-0.242254591782244	0.30039	1.687959	0.999999718843654	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.46	0.53567	4.948000	0.63290	2.927000	0.35595	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.906000	0.44173	0.0:0.0716:0.0:0.9284	11.236	0.48172	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	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	0.05	2086.43	34	chr5	33947272	.	T	C	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.54;SOR=0.697	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2098,0,2468	9	0	1	0
chr5	35047876	35047876	C	T	exonic	AGXT2	.	nonsynonymous SNV	AGXT2:NM_001306173:exon1:c.G17A:p.R6K,AGXT2:NM_031900:exon1:c.G17A:p.R6K	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.015701473215	7.7e-05	0.00179712	0.0011	0	0	0.0001	0	0.0002	0	0.0073	0.000912	141	154602	rs148595824	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0065	0.0063	0	0	3.826e-05	2.519e-05	1.872e-05	0.0017	0.0001	0.0005	0.0069	0.0003	0.0003	0.0002	0.0005	0.0085	0.0003	0.0002	0.0064	0.0057	0	0	6.539e-05	0	0.0002	0	0	0.0001	0	0.0085	0.038	0.43708	D	0.208	0.31125	T	0.162	0.28404	B	0.064	0.27215	B	0.004219	0.01012	N	2.892700	0.997093	0.22793	N	1.87	0.49600	L	-1.56	0.81815	D	-0.29	0.11728	N	0.431	0.51583	-0.5644	0.66235	T	0.382	0.73825	T	10	0.0059773624	0.00134	T	0.015701	0.36577	T	0.333	0.65522	.	.	0.782165406582	0.78015	0.322553307880973	0.32168	0.146745363841	0.16562	0.445568025112	0.31339	T	0.045539	0.27154	T	-0.321247	0.06797	T	-0.231057	0.51669	T	0.0670659290829569	0.08232	T	0.684632	0.29288	T	0.13571618	0.31488	0.14289369	0.33979	0.13571618	0.31488	0.14289369	0.33978	-3.912	0.22482	T	.	.	0.096	0.20235	B	.;.;.	.;.;.	2.548594	0.32983	19.21	0.98637607331916888	0.44001	0.72566	0.35514	D	AEFBHCI	0.357579	0.44856	N	-0.0792050083367159	0.38306	2.241472	0.0201629321064039	0.40651	2.429554	0.986015260477996	0.30989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.58	3.58	0.40133	1.707000	0.37507	2.697000	0.34132	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	10.996	0.46795	813	0.42397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1600.43	35	chr5	35047876	.	C	T	1600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=468;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.301;SOR=0.781	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1612,0,1661	9	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	57.27	114	chr5	36976312	.	G	C	57.27	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.656;DP=1135;ExcessHet=0.2348;FS=188.233;InbreedingCoeff=-0.2172;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.84;SOR=9.17	GT:AD:DP:GQ:PL	0/1:85,16:105:16:16,0,2914	5	0	2	3
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S,EGFLAM:NM_001205301:exon9:c.G1222T:p.A408S,EGFLAM:NM_152403:exon9:c.G1222T:p.A408S	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.043860	0.000000	0.025862	0.000000	0.003788	0.05	1241.43	34	chr5	38407879	.	G	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=429;ExcessHet=0;FS=4.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.853;SOR=1.16	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1253,0,1542	9	0	1	0
chr5	40853902	40853902	C	T	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2570T:p.S857L	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00410600996475	0.0027	0.00159744	0.0024	0.0006	0.0014	0	0.0014	0.0037	0.0044	0.0011	0.0024191	374	154602	rs148780446	0.0026	0.0026	0.0025	0.0027	0.0102	0.0025	0.0025	0.0081	0.0074	0.0006	0.0022	0.0016	0	0.0013	0.0102	0.0029	0.0027	0.0012	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0.0011	0.0031	0.0012	0	0.0023	0.0034	0.0043	0.0052	0.0008	1.0	0.00964	T	0.611	0.07666	T	0.002	0.09854	B	0.003	0.08700	B	0.429181	0.04694	N	1.414550	1	0.08975	N	0.255	0.09829	N	2.62	0.12988	T	-1.1	0.28497	N	0.092	0.07125	-0.9757	0.35970	T	0.020	0.08407	T	10	0.004354179	0.00088	T	0.004106	0.09806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.08456952007917354	0.08390	0.0254265368398	0.02595	0.262113213539	0.05144	T	0.013495	0.11662	T	-0.620703	0.00109	T	-0.663557	0.08028	T	0.00111350901734773	0.00011	T	0.556944	0.19352	T	0.020639135	0.00629	0.031389404	0.01720	0.020639135	0.00629	0.031389404	0.01720	-3.764	0.20268	T	.	.	0.096	0.15385	B	.	.	0.975961	0.13534	10.06	0.79962525394144957	0.12981	0.02723	0.07386	N	AEFDGBI	0.043554	0.06900	N	-0.977136948018202	0.09093	0.428983	-0.989187056023902	0.10027	0.5024787	0.999647585175809	0.41316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.9	0.847	0.18099	-0.071000	0.11465	0.597000	0.19884	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.5993:0.0:0.4007	7.925	0.29034	479	0.77495	.	.	.	.	.	.	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	0.015106	0.020202	0.017663	0.005848	0.000000	0.034483	0.018293	0.000000	0.05	1035.43	42	chr5	40853902	.	C	T	1035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=432;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.011;SOR=0.521	GT:AD:DP:GQ:PL	0/1:58,39:97:99:1047,0,1538	9	0	1	0
chr5	90720066	90720066	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon44:c.A9466G:p.I3156V	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1519	3	0	0	3	0.000986518	.	.	.	55570	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0652648251678	.	0.000599042	0.0004	0	0.0003	0	0	8.993e-05	0	0.0021	0.0003105	48	154602	rs372484022	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0.0002	0	2.521e-05	0	0.0014	2.069e-05	8.283e-05	0.0021	0.0001	0.0001	0.0002	0.0001	0.0023	9.734e-05	8.25e-05	0.0013	0.0010	2.404e-05	0	0.0005	0	0	0	0	2.94e-05	0.0005	0.0023	0.536	0.06891	T	0.26	0.23029	T	0.274	0.31856	B	0.056	0.26147	B	0.000091	0.51296	N	0.231325	0.936413	0.37155	D	.	.	.	1.63	0.28002	T	-0.17	0.09627	N	0.244	0.27554	-1.0865	0.06138	T	0.051	0.21689	T	10	0.0058565736	0.00131	T	0.065265	0.69526	D	0.035	0.08770	0.327	0.31034	0.238705975628	0.23479	0.22840618481394767	0.22755	0.124164387762	0.13980	0.30004876852	0.10408	T	0.046484	0.27437	T	-0.623443	0.00105	T	-0.675573	0.07256	T	0.0353833192621927	0.02873	T	0.59644	0.22167	T	0.034888167	0.04001	0.046645217	0.06548	0.03459016	0.03909	0.033438392	0.02239	-4.064	0.24757	T	.	.	0.074	0.05188	B	.;.	.;.	0.852493	0.12249	8.790	0.91320093928617307	0.20581	0.19504	0.20686	N	AEFBI	0.141647	0.26388	N	-0.556718231796892	0.20274	1.067548	-0.48020973165842	0.22699	1.234227	2.12360943132869E-4	0.05997	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	1.86	0.24489	0.088000	0.14821	-0.811000	0.07334	-0.041000	0.17446	0.032000	0.20554	0.000000	0.08366	0.993000	0.69303	0.8019:0.0:0.1981:0.0	9.695	0.39315	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	745.43	40	chr5	90720066	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=434;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.608;SOR=0.615	GT:AD:DP:GQ:PL	0/1:63,35:98:99:757,0,1429	9	0	1	0
chr5	95414053	95414053	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.C400T:p.R134C	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0068	0.00439297	0.0050	0.0014	0.0031	0	0.0017	0.0068	0.0078	0.0050	0.0049741	769	154602	rs76962324	0.0067	0.0067	0.0066	0.0067	0.0173	0.0065	0.0065	0.0146	0.0136	0.0016	0.0040	0.0050	5.038e-05	0.0021	0.0173	0.0074	0.0068	0.0055	0.0049	0.0049	0.0049	0.0048	0.0078	0.0046	0.0045	0.0072	0.0070	0.0015	0	0.0046	0.0035	0	0.0021	0.0238	0.0078	0.0080	0.0041	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000039	0.55875	D	0.085547	0.997046	0.43591	D	.	.	.	1.94	0.22678	T	-5.39	0.85027	D	0.658	0.66787	-0.9516	0.40695	T	0.106	0.38587	T	10	0.010783225	0.00239	T	.	.	.	0.253	0.56294	.	.	0.307648195649	0.30373	0.47366088601789136	0.47285	0.530407751899	0.50578	0.376723438501	0.21792	T	.	.	.	-0.339863	0.05397	T	-0.257101	0.49114	T	0.0388660275550963	0.03486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	5.268109	0.88451	29.6	0.99939570940083844	0.99734	0.80067	0.39806	D	AEFGBI	0.459933	0.51033	N	0.717791549098515	0.80798	7.374928	0.684031709257305	0.81166	7.463709	0.938823137378373	0.27360	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	1.640000	0.36801	4.887000	0.45725	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1589:0.8411:0.0:0.0	13.251	0.59479	646	0.63441	.	.	.	.	.	.	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	0.016616	0.005051	0.016304	0.032164	0.000000	0.025862	0.015244	0.011364	0.05	2172.43	121	chr5	95414053	.	C	T	2172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=918;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.92;SOR=0.546	GT:AD:DP:GQ:PL	0/1:86,87:173:99:2184,0,1952	9	0	1	0
chr5	95428662	95428662	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon6:c.G716A:p.R239Q	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00260826757858	0.0066	0.00379393	0.0050	0.0016	0.0038	0	0.0048	0.0061	0.0078	0.0059	0.0052845	817	154602	rs1541797	0.0068	0.0068	0.0068	0.0068	0.0077	0.0067	0.0066	0.0076	0.0075	0.0015	0.0044	0.0005	5.039e-05	0.0058	0.0029	0.0077	0.0053	0.0053	0.0047	0.0047	0.0051	0.0043	0.0073	0.0044	0.0043	0.0068	0.0066	0.0010	0	0.0063	0.0006	0.0002	0.0043	0	0.0073	0.0062	0.0046	0.875	0.02575	T	1.0	0.01155	T	.	.	.	.	.	.	0.042302	0.23855	N	0.456201	1	0.08975	N	.	.	.	2.41	0.15492	T	0.85	0.01736	N	0.113	0.10056	-0.9554	0.40024	T	0.011	0.03903	T	10	0.0054428577	0.00120	T	0.002608	0.05292	T	0.061	0.17616	.	.	0.199424873507	0.19547	0.030983326499687	0.03047	0.115101169572	0.12988	0.21596057713	0.01089	T	.	.	.	-0.706535	0.00033	T	-0.782397	0.02382	T	0.000934506258472898	0.00009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	0.566161	0.09345	6.128	0.32580228653386939	0.01895	0.02021	0.06069	N	AEFBI	0.044141	0.07066	N	-1.08749245223768	0.06873	0.3176371	-1.06533507115238	0.08391	0.4123364	9.62435615225125E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	0.132	0.14061	0.289000	0.18713	-0.116000	0.11774	-0.105000	0.15698	0.005000	0.17040	0.002000	0.18203	0.149000	0.20271	0.478:0.1226:0.3994:0.0	6.737	0.22604	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1472.43	33	chr5	95428662	.	G	A	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.243;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1484,0,1073	9	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	910.05	51	chr5	102270770	.	G	A	910.05	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.065;DP=424;ExcessHet=1.5895;FS=179.287;InbreedingCoeff=-0.291;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=1.44;SOR=6.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,8:43:99:0|1:102270770_G_A:133,0,1087:102270770	5	0	4	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	287.37	61	chr5	102270771	.	T	C	287.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.907;DP=427;ExcessHet=0.2348;FS=55.455;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=1.64;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,8:43:99:0|1:102270770_G_A:133,0,1087:102270770	7	0	2	1
chr5	113143311	113143311	G	A	exonic	MCC	.	nonsynonymous SNV	MCC:NM_002387:exon3:c.C221T:p.T74M,MCC:NM_001085377:exon5:c.C791T:p.T264M	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	2762111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0282641021458	7.7e-05	.	0.0001	9.615e-05	0	0.0013	0	1.5e-05	0	0	8.41e-05	13	154602	rs377332690	7.048e-05	7.251e-05	7.216e-05	6.877e-05	0.0005	5.915e-05	5.524e-05	0.0004	0.0003	0	0.0002	0	0.0005	1.875e-05	0.0002	4.497e-05	0.0003	4.641e-05	7.231e-05	7.224e-05	7.71e-05	6.729e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	4.83e-05	0	0	0	0.0008	0	0	7.349e-05	0	0	0.066	0.42783	T	0.194	0.39645	T	0.27	0.39935	B	0.007	0.22546	B	0.000005	0.62929	D	0.064542	0.999947	0.51968	D	0.55	0.14455	N	-1.17	0.78199	T	-0.13	0.10308	N	0.376	0.43126	-0.5700	0.66015	T	0.231	0.59732	T	10	0.07611409	0.11850	T	0.028264	0.50969	D	0.067	0.19503	.	.	0.794710338402	0.79280	0.5707770303441715	0.57005	0.107033212808	0.12085	0.745954275131	0.73849	T	0.087272	0.37906	T	-0.316188	0.07214	T	-0.27251	0.47565	T	0.0342713612929779	0.02684	T	0.90321	0.66112	D	0.06135075	0.12694	0.11445275	0.27627	0.06135075	0.12693	0.11445275	0.27626	-3.134	0.12238	T	0.2696907261640585	0.36300	0.096	0.20078	B	.;.;.;.	.;.;.;.	4.440978	0.68956	25.3	0.98290198038002097	0.39945	0.92196	0.55159	D	AEFDBI	0.455352	0.50767	N	0.0721620435136904	0.45166	2.777849	0.223018592562521	0.51127	3.297985	0.999987765614562	0.51787	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	4.92	0.64147	5.770000	0.68526	8.419000	0.77144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0739:0.0:0.9261:0.0	16.070	0.80726	914	0.21048	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	873.43	36	chr5	113143311	.	G	A	873.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.693;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.33;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,35:70:99:0|1:113143307_T_C:885,0,851:113143307	9	0	1	0
chr5	136059152	136059152	G	A	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon13:c.G1741A:p.G581R	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	892919	Corneal_dystrophy	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.677	0.189638166505	0.0002	.	0.0002	0	0.0002	0.0001	0	0.0003	0.0014	7.844e-05	0.0001682	26	154602	rs200887459	0.0001	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	7.205e-05	5.541e-05	2.991e-05	6.757e-05	0.0054	2.521e-05	0	0.0004	3.421e-05	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.243e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0055	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.13	0.59329	M	-2.88	0.91533	D	-3.56	0.68880	D	0.92	0.92317	-0.2468	0.76445	T	0.431	0.77277	T	10	0.3132028	0.48773	T	0.189638	0.86075	D	0.788	0.92988	0.521	0.62368	0.959502939549	0.95907	0.9414456165461513	0.94125	0.327434873958	0.34880	0.722441017628	0.70402	T	0.730044	0.92437	D	0.289466	0.82111	D	0.403723	0.92231	D	0.23852839643157	0.22351	T	0.949605	0.80601	D	0.8247368	0.85541	0.6811218	0.81261	0.8247368	0.85542	0.6811218	0.81262	-13.821	0.92461	D	0.663551305453614	0.73743	0.428	0.61098	A	.	.	4.858888	0.79490	27.1	0.99931844515136503	0.99387	0.83910	0.43001	D	AEFDBCI	0.975735	0.99635	D	0.604433698425129	0.73454	5.968803	0.660412205067538	0.79388	7.071949	1.0	0.98316	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.52	5.52	0.82153	8.950000	0.92925	9.989000	0.82972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	19.809	0.96535	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	353.43	36	chr5	136059152	.	G	A	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.58;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.278;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,14:39:99:365,0,511	9	0	1	0
chr5	138138780	138138780	T	-	exonic	NME5	.	startloss	NME5:NM_003551:exon2:c.1delA:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.254e-06	9.684e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs764022257	6.892e-07	6.84e-07	0	1.385e-06	3.063e-05	0	0	.	.	3.063e-05	0	0	0	0	0	0	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	554.39	34	chr5	138138779	.	AT	A	554.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.308;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.11;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:566,0,552	9	0	1	0
chr5	138257648	138257648	G	A	exonic	GFRA3	.	nonsynonymous SNV	GFRA3:NM_001496:exon4:c.C776T:p.P259L	.	426	1093	3	0	0	3	0.00137049	.	.	.	3258342	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00932382881748	0.0002	0.000199681	0.0002	0.0005	0.0004	0	0	0.0002	0.0030	0.0001	0.0001423	22	154602	rs202238427	0.0001	0.0001	0.0001	0.0002	0.0078	0.0001	0.0001	0.0059	0.0053	0.0004	0.0003	0	0	1.943e-05	0.0078	8.283e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	4.41e-05	0.0014	0	0.809	0.05152	T	0.541	0.13792	T	0.213	0.30041	B	0.026	0.20792	B	0.213043	0.16318	N	0.644563	0.999996	0.08975	N	1.78	0.46185	L	-0.07	0.63738	T	-2.56	0.55339	D	0.138	0.13626	-1.0367	0.18326	T	0.131	0.44268	T	10	0.06847432	0.09690	T	0.009324	0.24459	T	0.057	0.16321	.	.	0.756832680445	0.75462	0.6708975461751737	0.67027	1.26099718481	0.82023	0.440696179867	0.30672	T	0.176508	0.52647	T	-0.439083	0.01309	T	-0.499739	0.22374	T	0.0421947278082371	0.04090	T	0.616038	0.23564	T	0.1185666	0.27933	0.10179483	0.24379	0.1185666	0.27933	0.10179483	0.24379	-4.736	0.33836	T	.	.	0.102	0.17911	B	.;.	.;.	0.730210	0.10996	7.655	0.37827899425553801	0.02516	0.04880	0.10622	N	AEFBI	0.073381	0.14677	N	-0.64401200921902	0.17635	0.9091077	-0.626776709193095	0.18806	1.006256	1.32345764224134E-5	0.02871	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.81	3.8	0.42887	0.375000	0.20248	0.465000	0.18656	0.676000	0.76740	0.011000	0.18532	0.000000	0.08366	0.027000	0.12703	0.1891:0.0:0.8109:0.0	5.210	0.14633	240	0.90628	GDNF/GAS1|GDNF/GAS1;.	.	.	.	.	.	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	0.002533	0.010204	0.002717	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	365.43	34	chr5	138257648	.	G	A	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=376;ExcessHet=0;FS=1.164;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.059;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,16:45:99:377,0,652	9	0	1	0
chr5	138290666	138290666	C	G	exonic	CDC25C	.	nonsynonymous SNV	CDC25C:NM_022809:exon6:c.G618C:p.Q206H,CDC25C:NM_001364028:exon7:c.G708C:p.Q236H,CDC25C:NM_001287582:exon9:c.G837C:p.Q279H,CDC25C:NM_001287583:exon9:c.G1071C:p.Q357H,CDC25C:NM_001318098:exon9:c.G888C:p.Q296H,CDC25C:NM_001364026:exon9:c.G1071C:p.Q357H,CDC25C:NM_001790:exon9:c.G837C:p.Q279H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0028023457777	.	.	8.243e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs775523348	5.487e-06	5.473e-06	0	1.103e-05	0.0003	2.36e-06	1.71e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	1.66e-05	5.804e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.07211	T	0.269	0.37037	T	0.93	0.56768	P	0.365	0.52639	B	0.451606	0.12500	N	0.749252	1	0.08975	N	1.32	0.33002	L	2.5	0.23082	T	-0.18	0.12847	N	0.122	0.13484	-1.0705	0.09304	T	0.039	0.16634	T	10	0.062629044	0.08037	T	0.002802	0.05840	T	0.077	0.22490	0.378	0.39319	0.3571064206	0.35317	0.30399581988511487	0.30312	0.434166070331	0.43544	0.306147366762	0.11325	T	0.167743	0.51448	T	-0.294057	0.09232	T	-0.559539	0.16420	T	0.425309658050537	0.29887	T	0.0286971	0.00216	T	0.036910556	0.04632	0.03190018	0.01845	0.036910556	0.04631	0.03190018	0.01845	-4.101	0.35053	T	.	.	0.111	0.24967	B	.;.;.;.;.	.;.;.;.;.	1.133953	0.15208	11.67	0.97116135582135643	0.32434	0.21138	0.21295	N	AEFDBI	0.049917	0.08673	N	-0.686401650310987	0.16408	0.8357139	-0.695274466251396	0.17078	0.9064718	2.72290161979057E-4	0.06300	0.706298	0.61202	0	0.615513	0.52658	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.19	0.469	0.15952	0.407000	0.20770	-0.174000	0.11198	-0.265000	0.06832	0.985000	0.35982	0.000000	0.08366	0.810000	0.38174	0.1281:0.3358:0.2244:0.3117	1.171	0.01714	406	0.82375	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	723.43	35	chr5	138290666	.	C	G	723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.589;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-1.55;SOR=0.758	GT:AD:DP:GQ:PL	0/1:45,36:81:99:735,0,1054	9	0	1	0
chr5	139121137	139121137	T	G	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon3:c.A142C:p.T48P,SIL1:NM_001037633:exon4:c.A142C:p.T48P	Marinesco-Sjogren syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	443688	not_provided|Marinesco-Sjögren_syndrome	MedGen:C3661900|MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0174898456188	0.0002	0.000199681	4.118e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs185697854	7.525e-06	7.525e-06	6.806e-06	8.25e-06	0.0002	4.04e-06	2.95e-06	0.0001	8.675e-05	0.0002	0	0	0	0	0	0	4.967e-05	0	9.848e-05	9.842e-05	0.0002	2.686e-05	0.0003	6.002e-05	4.876e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0.0002	0.123	0.37118	T	0.347	0.32144	T	0.891	0.49025	P	0.372	0.43610	B	0.240710	0.15717	N	0.615629	1	0.08975	N	1.39	0.34934	L	-0.52	0.70717	T	-1.43	0.35194	N	0.129	0.12341	-0.9627	0.38664	T	0.183	0.53057	T	10	0.06568906	0.08901	T	0.01749	0.39209	T	0.157	0.40909	.	.	0.508455578974	0.50483	0.14762871186872856	0.14684	0.305525369266	0.32858	0.280414402485	0.07549	T	0.220948	0.58438	T	-0.273598	0.11358	T	-0.276748	0.47137	T	0.0927438139915466	0.11539	T	0.661134	0.27033	T	0.1544273	0.34954	0.1968136	0.43431	0.1544273	0.34954	0.1968136	0.43430	-3.154	0.11927	T	.	.	0.062	0.04198	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.984684	0.25217	16.68	0.9910373815000123	0.52546	0.16058	0.19211	N	AEFDBI	0.190058	0.31730	N	-0.200447115095213	0.33116	1.875183	-0.208878898774958	0.31215	1.764567	0.977516100742291	0.29829	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	2.72	0.31179	1.028000	0.29734	-0.240000	0.10600	0.665000	0.62972	0.720000	0.28821	0.000000	0.08366	0.996000	0.76049	0.0:0.0871:0.1695:0.7434	6.120	0.19367	643	0.63827	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	799.43	38	chr5	139121137	.	T	G	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.759;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.54;SOR=0.577	GT:AD:DP:GQ:PL	0/1:23,32:55:99:811,0,666	9	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	828.45	73	chr5	139887481	.	C	T	828.45	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.427;DP=978;ExcessHet=0.7463;FS=254.507;InbreedingCoeff=-0.2159;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.58;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,32:117:99:.:.:381,0,2393:.	6	0	3	1
chr5	140807559	140807559	G	C	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.G372C:p.R124S,PCDHA4:NM_031500:exon1:c.G372C:p.R124S	.	.	.	.	.	.	.	.	.	.	.	3578758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00915682147493	0.0004	.	5.767e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs150847383	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.312e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.55e-05	0	0	0	0	0	0	0.0002	0.235	0.18000	T	0.197	0.29249	T	0.224	0.30397	B	0.17	0.35299	B	0.082930	0.20781	U	0.335126	1	0.81001	D	1.485	0.37223	L	0.8	0.49919	T	-2.87	0.60348	D	0.079	0.11769	-1.0240	0.22410	T	0.081	0.31943	T	10	0.09467769	0.16853	T	0.009157	0.24083	T	0.019	0.03383	0.356	0.35734	0.533227312814	0.52972	0.3335826257798778	0.33271	.	.	.	.	.	0.207986	0.56778	T	-0.484535	0.00696	T	-0.569614	0.15484	T	0.0779756950118405	0.09725	T	0.717028	0.33902	T	0.20470421	0.42589	0.15301119	0.35975	0.20470421	0.42589	0.15301119	0.35974	-10.024	0.75519	D	.	.	0.274	0.50754	B	.;.;.;.	.;.;.;.	3.202466	0.43554	21.8	0.94121564315305073	0.24299	0.28290	0.23513	N	AEFDGBHCI	0.302378	0.41064	N	-0.531391483008145	0.21071	1.115557	-0.467475471322351	0.23055	1.255363	0.999964057163875	0.48965	0.525926	0.21836	0	0.615948	0.52940	0	0.504199	0.09095	0	0.554799	0.18163	0	.	.	4.62	2.7	0.31007	-0.963000	0.03947	.	.	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.671000	0.33280	0.0832:0.1531:0.6252:0.1386	5.417	0.15679	20	0.98525	Cadherin-like;.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3066.43	221	chr5	140807559	.	G	C	3066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=1576;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.89;MQRankSum=-4.758;QD=11.15;ReadPosRankSum=0.649;SOR=0.716	GT:AD:DP:GQ:PL	0/1:145,130:275:99:3078,0,3529	9	0	1	0
chr5	140822136	140822136	G	A	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.G361A:p.A121T,PCDHA5:NM_031501:exon1:c.G361A:p.A121T	.	.	.	.	.	.	.	.	.	.	.	3578766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0204591368216	0.0004	.	5.767e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs143698188	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.311e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.542e-05	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.039	0.57587	D	0.152	0.31898	B	0.085	0.39564	B	.	.	.	.	1	0.81001	D	-0.1	0.04694	N	1.28	0.35960	T	0.02	0.06739	N	0.117	0.23253	-0.9951	0.31272	T	0.050	0.21182	T	9	0.05954376	0.07173	T	0.020459	0.43059	T	0.137	0.36984	.	.	0.412328234245	0.40847	0.09319102768630674	0.09251	0.341023581507	0.36037	.	.	.	0.001361	0.00832	T	-0.433618	0.01410	T	-0.496476	0.22713	T	0.149927678941755	0.17098	T	0.950405	0.81010	D	0.08447173	0.19552	0.16658649	0.38477	0.08447173	0.19551	0.16658649	0.38476	-4.919	0.36666	T	.	.	0.077	0.06341	B	.;.;.	.;.;.	4.209376	0.63584	24.6	0.99782307472267417	0.86867	0.97927	0.78187	D	AEFDGBHCI	0.824788	0.74461	D	-0.144142571455081	0.35485	2.038793	0.0357894213744973	0.41391	2.485838	0.999998074475908	0.74766	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.01	4.01	0.45821	5.611000	0.67355	.	.	0.618000	0.50648	1.000000	0.71638	0.226000	0.23749	0.855000	0.40485	0.0881:0.0:0.9119:0.0	12.121	0.53192	28	0.98252	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2934.43	120	chr5	140822136	.	G	A	2934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=908;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.299;QD=13.28;ReadPosRankSum=-1.468;SOR=0.63	GT:AD:DP:GQ:PL	0/1:101,120:221:99:2946,0,2327	9	0	1	0
chr5	140834716	140834716	A	C	exonic	PCDHA7	.	nonsynonymous SNV	PCDHA7:NM_018910:exon1:c.A333C:p.E111D,PCDHA7:NM_031852:exon1:c.A333C:p.E111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00808518470642	.	0.000998403	0.0005	0.0010	0.0002	0.0028	0.0011	0.0001	0	0.0002	0.0002305	6	26028	rs17844306	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0003	0.0058	0.0055	0.0006	0.0002	0	0.0064	0.0008	0.0003	6.655e-05	0.0002	0.0002	0.0005	0.0006	0.0006	0.0005	0.0025	0.0004	0.0004	0.0015	0.0012	0.0010	0	0.0003	0	0.0025	0.0014	0	5.88e-05	0	0.0002	1.0	0.00964	T	1.0	0.03817	T	0.002	0.09854	B	0.035	0.22741	B	0.142694	0.18235	U	0.275715	1	0.81001	D	0.3	0.10203	N	1.37	0.34253	T	3.09	0.00129	N	0.067	0.05542	-0.9943	0.31485	T	0.032	0.13854	T	10	0.007409215	0.00168	T	0.008085	0.21418	T	0.031	0.07369	0.609	0.74182	0.269111216191	0.26524	0.4719633305995994	0.47115	.	.	.	.	.	0.002623	0.02014	T	-0.350771	0.04679	T	-0.741635	0.03822	T	0.00281180065286544	0.00029	T	0.517348	0.16736	T	0.053275935	0.10058	0.040319305	0.04329	0.053275935	0.10058	0.040319305	0.04329	-1.893	0.02801	T	.	.	0.067	0.02548	B	.;.	.;.	0.242787	0.06227	2.681	0.68759573712932553	0.08758	0.03054	0.07954	N	AEFDBCI	0.055780	0.10258	N	-1.20681426612539	0.04899	0.2221259	-1.09828847557308	0.07734	0.3773797	0.0135509858347515	0.12479	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	3.99	0.959	0.18747	-1.374000	0.02672	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.1331:0.329:0.3892:0.1487	3.26	0.06441	31	0.98186	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2139.43	35	chr5	140834716	.	A	C	2139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=690;ExcessHet=0;FS=19.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.57;MQRankSum=-11.27;QD=5.96;ReadPosRankSum=2.6;SOR=0.892	GT:AD:DP:GQ:PL	0/1:252,107:359:99:2151,0,6362	9	0	1	0
chr5	140871191	140871191	C	A	exonic	PCDHA11	.	nonsynonymous SNV	PCDHA11:NM_018902:exon1:c.C2088A:p.N696K,PCDHA11:NM_031861:exon1:c.C2088A:p.N696K	.	.	.	.	.	.	.	.	.	.	.	3578695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.148848918108	0.0003	.	4.187e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs370303558	8.212e-06	8.209e-06	1.089e-05	5.502e-06	0.0003	4.38e-06	3.46e-06	0.0001	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.312e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.539e-05	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.998	0.77913	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	3.36	0.91202	M	0.71	0.51228	T	-5.71	0.87457	D	0.528	0.59393	-0.6411	0.63099	T	0.372	0.73114	T	9	0.5178955	0.62472	D	0.148849	0.83073	D	0.247	0.55478	0.663	0.80098	0.819273391136	0.81756	0.5451039524438808	0.54436	0.740897167152	0.63259	.	.	.	0.047301	0.27682	T	-0.313798	0.07417	T	-0.343588	0.39939	T	0.843801081180573	0.49640	D	0.957004	0.83719	D	0.4444956	0.63691	0.53672653	0.73229	0.4444956	0.63691	0.53672653	0.73229	-10.195	0.76103	D	.	.	0.694	0.72721	P	.;.	.;.	2.490428	0.32130	18.95	0.99795878725834242	0.88106	0.32776	0.24668	N	AEFDGBCI	0.410242	0.48120	N	0.338663956850538	0.58145	3.985004	0.147706674999572	0.47021	2.938677	0.190273708619927	0.17990	0.553676	0.25195	0	0.588015	0.36545	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.75	2.94	0.33188	-0.558000	0.06069	.	.	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.568000	0.30603	0.0:0.6711:0.0:0.3289	7.955	0.29199	51	0.97631	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1841.43	39	chr5	140871191	.	C	A	1841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=571;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-1.222;SOR=0.78	GT:AD:DP:GQ:PL	0/1:137,77:214:99:1853,0,3273	9	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23,PCDHAC1:NM_031882:exon1:c.796dupG:p.E267Gfs*23	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.005051	0.009511	0.020468	0.000000	0.008621	0.003049	0.000000	0.05	1498.39	35	chr5	140927687	.	T	TG	1498.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.43;SOR=0.657	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1510,0,2127	9	0	1	0
chr5	140928379	140928379	G	A	exonic	PCDHAC1	.	nonsynonymous SNV	PCDHAC1:NM_018898:exon1:c.G1487A:p.S496N,PCDHAC1:NM_031882:exon1:c.G1487A:p.S496N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	.	0.0038	0.00319489	0.0010	0.0116	0.0004	0	0	0	0	0	0.0009767	151	154602	rs140058365	0.0003	0.0003	0.0003	0.0002	0.0090	0.0003	0.0002	0.0082	0.0079	0.0090	0.0011	0	0	0	0.0002	1.079e-05	0.0006	1.159e-05	0.0033	0.0033	0.0037	0.0030	0.0113	0.0031	0.0030	0.0105	0.0102	0.0113	0	0.0015	0	0	0	0	5.88e-05	0.0047	0.0002	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	1.905	0.50856	L	0.8	0.48769	T	-2.2	0.54217	N	0.102	0.14905	-0.9425	0.42218	T	0.172	0.51341	T	9	0.007452905	0.00169	T	.	.	.	0.199	0.48268	.	.	0.758533119349	0.75634	0.07061683190025982	0.06998	0.360950350727	0.37751	.	.	.	0.265004	0.63683	T	-0.60294	0.00140	T	-0.62847	0.10531	T	0.0280702786839769	0.01699	T	0.422258	0.11242	T	0.24221635	0.47147	0.32632187	0.58540	0.24221635	0.47146	0.32632187	0.58539	-6.816	0.53210	T	.	.	0.101	0.17445	B	.;.	.;.	3.138126	0.42432	21.5	0.9903411958181253	0.50873	0.88320	0.48195	D	AEFBI	0.416980	0.48521	N	0.298310432766598	0.56064	3.770562	0.236861824119408	0.51906	3.369155	0.972126020757375	0.29344	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.54	2.78	0.31702	2.563000	0.45585	.	.	0.676000	0.76740	0.653000	0.28198	0.044000	0.21668	0.999000	0.91618	0.2101:0.0:0.6532:0.1366	5.734	0.17325	60	0.97424	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1070.43	102	chr5	140928379	.	G	A	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=812;ExcessHet=0;FS=1.947;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,29:73:99:0|1:140928379_G_A:1082,0,1758:140928379	9	0	1	0
chr5	141179037	141179037	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1003A:p.L335M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0104	0.00778754	0.0029	0.0327	0.0007	0	0	7.492e-05	0.0011	0	0.0027167	420	154602	rs7700858	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0008	0	0	0	0.0012	2.788e-05	0.0017	6.956e-05	0.0087	0.0088	0.0090	0.0083	0.0304	0.0083	0.0081	0.0291	0.0285	0.0304	0	0.0028	0	0	0	0	5.879e-05	0.0043	0.0002	0.033	0.44358	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.64	0.01799	T	-0.71	0.20145	N	0.327	0.36779	-0.9633	0.38547	T	0.003	0.00961	T	9	0.0042194426	0.00084	T	.	.	.	0.032	0.07718	.	.	0.264081493735	0.26024	0.009740665806931805	0.00936	0.307721486312	0.33067	0.358101963997	0.19109	T	.	.	.	-0.691263	0.00041	T	-0.74066	0.03863	T	0.00452223462958757	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18414	B	.	.	1.531985	0.19653	14.37	0.98835475575925213	0.47035	0.01446	0.04850	N	AEFDGBI	0.068001	0.13394	N	-0.731732855537774	0.15133	0.760053	-0.858413263038488	0.13085	0.6768825	0.0456891990770014	0.14661	0.59774	0.34471	0	0.547309	0.14657	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.25	-0.176	0.12658	-4.407000	0.00274	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.0:0.3848:0.2733:0.3419	4.856	0.12920	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3292.43	275	chr5	141179037	.	C	A	3292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.449;DP=2403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-0.925;QD=5.03;ReadPosRankSum=-0.558;SOR=0.675	GT:AD:DP:GQ:PL	0/1:478,177:655:99:3304,0,12725	9	0	1	0
chr5	141180003	141180003	G	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.G1969A:p.A657T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0248731276948	.	.	8.719e-06	0	0	0	0	1.604e-05	0	0	.	.	.	rs782064898	6.866e-07	1.368e-06	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	6.568e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.44029	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	-1.41	0.34795	N	0.154	0.15888	-0.8915	0.48802	T	0.154	0.48481	T	9	0.18577588	0.34014	T	0.024873	0.47855	T	0.116	0.32463	0.64	0.77687	0.540970351286	0.53750	0.27035885635745177	0.26948	0.362057876894	0.37861	0.523856282234	0.42169	T	.	.	.	-0.184236	0.23107	T	-0.502419	0.22096	T	0.521791219711304	0.33431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.	.	2.588080	0.33566	19.38	0.99632989099144942	0.76142	0.04771	0.10481	N	AEFDBI	0.052388	0.09347	N	-0.382288687109739	0.26100	1.421877	-0.333873679062845	0.27013	1.49598	0.280240649048698	0.18981	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	1.192000	0.31759	.	.	0.347000	0.19874	0.002000	0.15269	0.057000	0.21958	0.013000	0.09966	0.0:0.0:1.0:0.0	16.283	0.82535	666	0.61362	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1022.43	96	chr5	141180003	.	G	A	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=982;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=0.247;QD=10.12;ReadPosRankSum=-1.996;SOR=0.803	GT:AD:DP:GQ:PL	0/1:60,41:101:99:1034,0,1426	9	0	1	0
chr5	141194351	141194351	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1799T:p.A600V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	.	0.00798722	0.0017	0.0256	0.0006	0	0	5.973e-05	0	0	0.0019978	52	26028	rs534628725	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0009	0	0	0	0.0005	3.42e-05	0.0017	6.973e-05	0.0089	0.0089	0.0092	0.0085	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0030	0	0	0	0	8.836e-05	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.872052	0.35582	D	3.915	0.96218	H	0.12	0.61089	T	-3.77	0.71397	D	0.371	0.41261	0.521	0.90846	D	0.520	0.82086	D	9	0.012220383	0.00264	T	.	.	.	0.385	0.70194	0.911	0.98230	0.88962124309	0.88853	0.3344237743359311	0.33355	.	.	0.627160727978	0.56742	T	0.114175	0.43177	T	-0.32185	0.06747	T	-0.214142	0.53298	T	0.0861729266805892	0.10757	T	0.972103	0.89869	D	0.5056685	0.67426	0.5521903	0.74105	0.5056685	0.67427	0.5521903	0.74105	-11.928	0.84497	D	.	.	0.808	0.77641	P	.	.	3.018391	0.40391	21.2	0.99921621983022568	0.98787	0.63597	0.32139	D	AEFI	0.555293	0.56579	D	0.554340876879688	0.70349	5.488187	0.353241945113823	0.58703	4.042481	0.927753107527927	0.26901	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.43	3.43	0.38372	2.519000	0.45206	.	.	0.420000	0.20791	0.011000	0.18532	0.772000	0.26708	0.293000	0.24333	0.0:1.0:0.0:0.0	15.076	0.71746	670	0.60992	Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.002398	0.000000	0.005618	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	317.43	59	chr5	141194351	.	C	T	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.181;DP=536;ExcessHet=0;FS=4.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.17;MQRankSum=0.257;QD=5.77;ReadPosRankSum=0.324;SOR=1.168	GT:AD:DP:GQ:PL	0/1:39,16:55:99:329,0,1099	9	0	1	0
chr5	141210318	141210318	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1411C:p.G471R	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0111	0.00958466	0.0034	0.0341	0.0008	0.0038	0.0002	0.0001	0.0011	0.0001	0.0031694	490	154602	rs145315035	0.0010	0.0010	0.0012	0.0009	0.0341	0.0010	0.0010	0.0324	0.0318	0.0341	0.0011	0	0.0020	1.872e-05	0.0014	0.0001	0.0020	0.0002	0.0091	0.0091	0.0095	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0030	0	0.0027	0	0	8.819e-05	0.0052	0.0004	0.007	0.59928	D	0.341	0.22016	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	3.61	0.04446	T	-7.82	0.95977	D	0.437	0.49146	-1.1054	0.03497	T	0.023	0.09787	T	9	0.006754726	0.00153	T	.	.	.	0.091	0.26358	.	.	0.446913017954	0.44314	0.46290196238067366	0.46209	0.837374831212	0.67867	0.583363950253	0.50560	T	0.11456	0.43247	T	-0.524249	0.00415	T	-0.500061	0.22342	T	0.0780224049285195	0.09732	T	0.791921	0.52631	T	0.5681954	0.70961	0.47368822	0.69494	0.5681954	0.70963	0.47368822	0.69494	-10.783	0.78454	D	.	.	0.627	0.76156	P	.;.	.;.	3.552458	0.49947	22.9	0.99842727283516974	0.92316	0.11205	0.16478	N	AEFBI	0.118241	0.23130	N	0.395162359066995	0.61159	4.313366	0.220928282326697	0.51011	3.287352	0.00829722530760405	0.11648	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	-0.158000	0.10058	.	.	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.0:0.1672:0.6611:0.1717	8.378	0.31614	692	0.58729	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2844.43	33	chr5	141210318	.	G	C	2844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.075;DP=563;ExcessHet=0;FS=0.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=1.08;QD=12.76;ReadPosRankSum=-0.833;SOR=0.649	GT:AD:DP:GQ:PL	0/1:104,119:223:99:2856,0,2536	9	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:158,89:247:99:453,0,2725	3	0	7	0
chr5	141423053	141423053	T	C	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.T1826C:p.L609P,PCDHGA11:NM_032091:exon1:c.T1826C:p.L609P,PCDHGA11:NM_032092:exon1:c.T1826C:p.L609P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0346886241507	0.0005	0.00179712	0.0003	0.0036	8.645e-05	0	0	0	0	0	0.0003299	51	154602	rs200154593	8.414e-05	8.414e-05	9.529e-05	7.288e-05	0.0027	7.203e-05	6.75e-05	0.0023	0.0021	0.0027	6.708e-05	0	0	0	0.0014	7.194e-06	0.0002	0	0.0006	0.0006	0.0006	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.88582	D	0.037463	0.24398	U	0.000000	1	0.81001	D	4.365	0.98522	H	0.43	0.56772	T	-6.8	0.92903	D	0.937	0.99100	0.341	0.88198	D	0.447	0.78300	T	10	0.07722458	0.12161	T	0.034689	0.55844	D	0.572	0.82629	.	.	0.930852390563	0.93014	0.8090009436739076	0.80855	1.54802404644	0.87850	.	.	.	0.290198	0.66297	T	0.0214491	0.54576	T	0.255928	0.85899	D	0.278957126303902	0.24128	T	0.928407	0.73561	D	0.9570379	0.96980	0.93761325	0.97610	0.9570379	0.96980	0.93761325	0.97611	-15.271	0.97108	D	.	.	0.775	0.86637	P	.;.;.	.;.;.	4.906669	0.80697	27.4	0.99843442883909239	0.92403	0.92583	0.56053	D	AEFDBCI	0.915682	0.88080	D	0.920988506235674	0.92749	11.60597	0.798934983003743	0.89719	10.09244	0.999999999997955	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.37	5.37	0.76949	6.015000	0.70444	.	.	0.645000	0.52629	1.000000	0.71638	0.996000	0.32793	0.972000	0.54974	0.0:0.0:0.0:1.0	15.371	0.74284	819	0.41190	.;Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2050.43	34	chr5	141423053	.	T	C	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.306;DP=965;ExcessHet=0;FS=0.56;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.659;SOR=0.749	GT:AD:DP:GQ:PL	0/1:84,89:173:99:2062,0,2255	9	0	1	0
chr5	141423693	141423693	G	T	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_032091:exon1:c.G2466T:p.W822C	.	25	1495	2	0	0	2	0.000668449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00599042	0.0013	0.0140	0.0002	0	0	8.69e-05	0	0	0.0012031	186	154602	rs114008539	0.0004	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0101	0.0097	0.0111	0.0004	0	0	0	0.0035	6.423e-05	0.0009	1.521e-05	0.0034	0.0033	0.0034	0.0033	0.0121	0.0031	0.0030	0.0111	0.0108	0.0121	0	0.0010	0	0	0	0	3.043e-05	0.0011	0.0002	.	.	.	0.163	0.31125	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.0038594902	0.00073	T	.	.	.	.	.	.	.	0.514530392947	0.51094	.	.	.	.	.	.	.	.	.	.	-0.544624	0.00314	T	-0.544703	0.17838	T	.	.	.	0.313069	0.06141	T	.	.	.	.	.	.	.	.	-1.748	0.02358	T	.	.	0.154	0.33981	B	.	.	-0.550722	0.01712	0.125	0.67608484943091163	0.08406	0.01976	0.05979	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999890498	0.74766	0.07523	0.01759	0	0.097471	0.02872	0	0.083675	0.02720	0	0.091162	0.02695	0	0.0520148	0.10893	5.24	-10.5	0.00234	-4.492000	0.00259	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.4278:0.23:0.1948:0.1474	1.948	0.03157	819	0.41190	.	.	.	.	.	.	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	0.003525	0.005051	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1679.43	34	chr5	141423693	.	G	T	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.97;DP=603;ExcessHet=0;FS=6.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.988;SOR=1.248	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1691,0,1272	9	0	1	0
chr5	141491458	141491458	G	T	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.G2218T:p.D740Y,PCDHGC5:NM_032407:exon1:c.G2218T:p.D740Y	.	.	.	.	.	.	.	.	.	.	.	4043944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00622863995656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867069360	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.116	0.28395	T	0.075	0.42794	T	0.004	0.13644	B	0.003	0.08700	B	0.179861	0.17133	N	0.473166	1	0.81001	D	1.385	0.34509	L	0.72	0.50976	T	-0.2	0.10136	N	0.211	0.25253	-1.0092	0.27167	T	0.091	0.34901	T	10	0.14185587	0.26949	T	0.006229	0.16347	T	0.102	0.29158	.	.	0.702099602486	0.69951	0.5870282005722526	0.58632	0.963660069342	0.73089	0.406212210655	0.25932	T	0.011534	0.10280	T	-0.128552	0.31730	T	-0.422432	0.30796	T	0.813677191734314	0.47310	D	0.727827	0.34232	T	0.116265886	0.27425	0.1315634	0.31589	0.116265886	0.27425	0.1315634	0.31588	-5.668	0.43408	T	.	.	0.141	0.41218	B	.;.	.;.	3.649721	0.51790	23.1	0.95068654794875007	0.26106	0.86589	0.45901	D	AEFDGBCI	0.533834	0.55312	D	-0.290826875056158	0.29502	1.636589	-0.113456932607951	0.34846	2.009133	0.999999996848466	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.93	4.93	0.64394	3.360000	0.52020	.	.	-0.106000	0.15538	0.788000	0.29570	1.000000	0.68203	0.428000	0.27405	0.0:0.0:1.0:0.0	13.491	0.60852	727	0.54702	Cadherin, cytoplasmic C-terminal 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	.	.	.	.	.	.	.	.	0.05	1866.43	82	chr5	141491458	.	G	T	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.25;DP=692;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.327;SOR=0.754	GT:AD:DP:GQ:PL	0/1:83,72:155:99:1878,0,2192	9	0	1	0
chr5	145820007	145820007	C	T	exonic	PRELID2	.	nonsynonymous SNV	PRELID2:NM_182960:exon3:c.G145A:p.G49R,PRELID2:NM_205846:exon3:c.G145A:p.G49R,PRELID2:NM_138492:exon4:c.G58A:p.G20R	.	440	1081	1	0	0	1	0.000462321	.	.	.	4049721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.029079870744	.	0.000199681	0.0001	0	0.0004	0	0	9.028e-05	0	0.0004	0.0001229	19	154602	rs557932254	3.349e-05	3.421e-05	2.498e-05	4.208e-05	0.0009	2.594e-05	2.294e-05	0.0003	0.0002	3.139e-05	0.0003	0	0	0	0.0009	9.1e-06	0.0001	0.0002	3.29e-05	3.284e-05	2.574e-05	4.04e-05	0.0002	1.262e-05	7.99e-06	4.88e-06	1.83e-06	2.413e-05	0	6.544e-05	0	0	0	0	2.942e-05	0	0.0002	0.004	0.65419	D	0.0	0.92824	D	0.959	0.55135	D	0.773	0.56974	P	0.000002	0.62929	D	0.000000	0.99974	0.48716	D	1.955	0.52871	M	1.73	0.26445	T	-4.13	0.89947	D	0.887	0.90363	-1.0679	0.09880	T	0.109	0.39344	T	10	0.8177788	0.81003	D	0.02908	0.51651	D	0.288	0.60691	0.798	0.91802	0.339074221408	0.33521	0.5490892485044587	0.54834	0.444476728638	0.44356	0.607520401478	0.53965	T	0.09666	0.39870	T	-0.0265861	0.47911	T	0.032902	0.72467	D	0.274794770298466	0.23951	T	0.906109	0.66926	D	0.42935735	0.62710	0.43482193	0.66989	0.42935735	0.62710	0.43482193	0.66989	-6.543	0.52915	T	.	.	0.442	0.61827	A	.;.;.;.	.;.;.;.	4.238937	0.64256	24.7	0.99821133291397779	0.90414	0.90509	0.51744	D	AEFBI	0.679281	0.64336	D	0.511195542151971	0.67751	5.123582	0.551511810538633	0.71501	5.66465	0.999920791021681	0.46280	0.651	0.46895	0	0.670034	0.63936	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	4.290000	0.58812	7.559000	0.60438	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.236	0.82200	566	0.70798	PRELI/MSF1 domain|PRELI/MSF1 domain;.;.;PRELI/MSF1 domain|PRELI/MSF1 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	.	.	.	.	.	.	.	.	0.05	939.43	53	chr5	145820007	.	C	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=447;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.47;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,35:68:99:951,0,770	9	0	1	0
chr5	146114228	146114228	C	T	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon31:c.G3271A:p.E1091K,LARS1:NM_001317965:exon31:c.G3247A:p.E1083K,LARS1:NM_016460:exon31:c.G3328A:p.E1110K,LARS1:NM_020117:exon32:c.G3409A:p.E1137K	.	437	1082	3	0	0	3	0.0013844	.	.	.	368239	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0207254352849	7.7e-05	0.000199681	0.0001	0	8.64e-05	0	0	4.497e-05	0	0.0007	0.00011	17	154602	rs201386463	9.304e-05	9.371e-05	5.037e-05	0.0001	0.0008	8.025e-05	7.518e-05	0.0006	0.0006	5.974e-05	0	0	0	0	0	5.756e-05	3.312e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0006	8.179e-05	6.733e-05	0.0002	9.904e-05	4.825e-05	0	0	0	0	0	0	0.0002	0	0.0006	0.328	0.13219	T	0.239	0.32249	T	0.005	0.12996	B	0.004	0.10090	B	0.013832	0.28718	N	0.404147	0.983937	0.40078	D	1.95	0.52479	M	-0.04	0.63240	T	-0.8	0.22078	N	0.249	0.32148	-0.7613	0.57334	T	0.188	0.53827	T	10	0.0733954	0.11083	T	0.020725	0.43381	T	0.045	0.12272	.	.	0.579527763308	0.57622	0.4832008114554515	0.48240	0.248207255185	0.27377	0.382381260395	0.22594	T	0.006611	0.06037	T	-0.348428	0.04826	T	-0.351256	0.39062	T	0.0489223454828262	0.05310	T	0.951005	0.81346	D	0.110197194	0.26050	0.097768046	0.23283	0.11858892	0.27938	0.11044969	0.26631	-3.222	0.12751	T	.	.	0.103	0.20896	B	.;.;.	.;.;.	3.425855	0.47591	22.5	0.99396205135691418	0.62565	0.95521	0.65052	D	AEFBI	0.375264	0.45986	N	-0.0146158910385933	0.41194	2.459677	0.0984352108504159	0.44470	2.728169	0.903914506169902	0.26165	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	4.63	0.57175	4.715000	0.61600	4.855000	0.45413	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.9238:0.0:0.0762	13.395	0.60291	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1458.43	33	chr5	146114228	.	C	T	1458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=428;ExcessHet=0;FS=7.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.4;SOR=1.408	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1470,0,1042	9	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	127.13	71	chr5	146286009	.	G	C	127.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.543;DP=724;ExcessHet=0.7463;FS=104.377;InbreedingCoeff=-0.2483;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,13:66:4:.:.:4,0,900:.	4	0	3	3
chr5	156951683	156951683	T	-	exonic	TIMD4	.	frameshift deletion	TIMD4:NM_001146726:exon3:c.508delA:p.T170Qfs*3,TIMD4:NM_138379:exon3:c.508delA:p.T170Qfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2523.39	34	chr5	156951682	.	GT	G	2523.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.028;SOR=0.714	GT:AD:DP:GQ:PL	0/1:96,82:178:99:2535,0,3005	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,184:468:99:.:.:19985,11507,10829:.	1	4	5	0
chr5	173086536	173086536	T	A	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon3:c.T45A:p.D15E,CREBRF:NM_001168394:exon3:c.T45A:p.D15E,CREBRF:NM_153607:exon3:c.T45A:p.D15E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0257200582635	.	.	0.0005	0	8.637e-05	0	0	0	0.0011	0.0035	0.0003816	59	154602	rs772772961	0.0002	0.0002	9.802e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0	8.993e-07	0.0001	0.0030	0.0001	0.0001	6.422e-05	0.0001	0.0031	6.505e-05	5.317e-05	0.0019	0.0015	0	0	0	0	0.0002	0	0	0	0	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	0.21	0.59983	T	-3.28	0.74051	D	0.937	0.94314	-0.6814	0.61307	T	0.254	0.62383	T	10	0.012847781	0.00275	T	0.02572	0.48675	D	0.227	0.52620	0.194	0.10571	0.284112513307	0.28011	0.30532862191357724	0.30445	0.867029497219	0.69248	0.780002176762	0.78927	T	0.042946	0.26344	T	-0.124012	0.32469	T	0.0466676	0.73365	D	0.126334812995933	0.15039	T	0.874313	0.61095	D	0.46899492	0.65228	0.36860675	0.62147	0.46899492	0.65229	0.36860675	0.62147	-3.371	0.14669	T	.	.	0.612	0.81367	P	.;.;.;.	.;.;.;.	4.141905	0.62066	24.4	0.99493018573673586	0.67573	0.93545	0.58509	D	AEFBI	0.392339	0.47043	N	0.515210091693959	0.67988	5.155795	0.557044842140459	0.71889	5.724106	0.999989986299318	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	2.439000	0.44504	4.265000	0.42822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0671:0.0:0.9329	12.407	0.54779	969	0.06854	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1462.43	35	chr5	173086536	.	T	A	1462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.237;DP=430;ExcessHet=0;FS=2.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.61;SOR=0.514	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1474,0,1340	9	0	1	0
chr5	173091407	173091407	A	G	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon4:c.A1228G:p.I410V,CREBRF:NM_001168394:exon4:c.A1228G:p.I410V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00399898201673	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923890609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	0	1.344e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.587	0.08302	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.55	0.02721	N	0.031	0.00942	-0.9883	0.33027	T	0.034	0.14552	T	7	0.029013157	0.01029	T	0.003999	0.09493	T	0.087	0.25287	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.325895	0.06427	T	-0.705902	0.05509	T	0.010231686264264	0.00139	T	0.212079	0.02586	T	.	.	.	.	.	.	.	.	-3.611	0.18016	T	.	.	0.133	0.28750	B	.;.	.;.	0.968909	0.13460	9.968	0.19062896219945719	0.00627	0.02539	0.07057	N	AEBI	0.030722	0.03146	N	-0.490478061950759	0.22392	1.195347	-0.622412095097058	0.18918	1.012746	0.656177580127516	0.22220	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.89	1.91	0.24841	0.797000	0.26660	1.602000	0.27589	0.756000	0.94297	0.281000	0.25150	0.002000	0.18203	0.880000	0.42090	0.6287:0.0:0.3713:0.0	7.074	0.24372	959	0.08690	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1734.43	35	chr5	173091407	.	A	G	1734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=464;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.004;SOR=1.034	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1746,0,1684	9	0	1	0
chr5	176384092	176384092	G	0	exonic	NOP16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4619.79	170	chr5	176384092	.	G	*	4619.79	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=970;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-0.869;SOR=0.669	GT:AD:DP:GQ:PL	0/1:89,57:146:99:1875,0,3123	8	0	2	0
chr5	179522679	179522679	C	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon1:c.C197T:p.P66L,C5orf60:NM_001305388:exon1:c.C197T:p.P66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.136e-06	1.543e-05	5.335e-06	4.951e-06	0.0001	1.2e-06	8.1e-07	1.994e-05	8.08e-06	0.0001	0	0	0	0	0	0	2.764e-05	1.509e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	49.58	32	chr5	179522679	.	C	T	49.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=301;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0622;MLEAC=1;MLEAF=0.05;MQ=37.07;MQRankSum=-0.967;QD=16.53;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,2:3:30:61,0,30	9	0	1	0
chr5	179644824	179644824	G	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon1:c.C197T:p.P66L,C5orf60:NM_001305388:exon1:c.C197T:p.P66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00775283603706	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866943228	5.718e-06	1.3e-05	4.231e-06	7.245e-06	6.336e-05	2.46e-06	1.78e-06	1.049e-05	3.92e-06	6.336e-05	0	0	0	0	0	2.781e-06	3.448e-05	1.262e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.999	0.77913	D	0.988	0.77976	D	.	.	.	.	1	0.08975	N	1.24	0.30952	L	.	.	.	.	.	.	.	.	-0.9758	0.35948	T	0.155	0.48636	T	8	0.21659702	0.38247	T	0.007753	0.20563	T	.	.	0.292	0.25400	.	.	0.016119422741370636	0.01567	.	.	.	.	.	.	.	.	-0.115666	0.33835	T	-0.403923	0.32928	T	0.339136657761011	0.26589	T	0.562644	0.19782	T	.	.	.	.	.	.	.	.	-3.522	0.16741	T	.	.	.	.	.	.	.	0.411975	0.07828	4.523	0.86328046283196314	0.16463	0.00447	0.02174	N	AEFDBI	0.037386	0.05132	N	-0.502103047588978	0.22012	1.172381	-0.771369689055998	0.15198	0.7981113	9.58122495297848E-5	0.04910	0.514905	0.20481	0	0.59043	0.45803	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	0.459	0.459	0.15890	0.497000	0.22222	0.162000	0.15417	-0.579000	0.04714	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1903.43	46	chr5	179644824	.	G	A	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.542;DP=963;ExcessHet=0;FS=1.228;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.96;MQRankSum=-6.311;QD=8.57;ReadPosRankSum=-0.243;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,59:222:99:0|1:179644824_G_A:1915,0,6609:179644824	9	0	1	0
chr5	179848051	179848051	A	C	exonic	MRNIP	.	nonsynonymous SNV	MRNIP:NM_016175:exon3:c.T142G:p.S48A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	0.0020	0.00319489	0.0006	0.0064	0.0003	0	0	2.998e-05	0	0	0.0005821	90	154602	rs144141070	0.0002	0.0002	0.0002	0.0002	0.0061	0.0001	0.0001	0.0054	0.0051	0.0061	0.0003	0	0	0	0.0002	7.196e-06	0.0002	2.319e-05	0.0019	0.0019	0.0019	0.0019	0.0065	0.0017	0.0016	0.0059	0.0056	0.0065	0	0.0004	0	0	0	0	0	0.0028	0	0.033	0.48642	D	0.098	0.44302	T	0.518	0.77913	P	0.303	0.82059	B	0.000536	0.43581	D	0.096682	0.608983	0.81001	D	.	.	.	3.07	0.08547	T	-2.45	0.54864	N	0.582	0.67218	-0.8706	0.50484	T	0.082	0.32266	T	10	0.010886997	0.00240	T	.	.	.	0.122	0.33800	.	.	0.478527412683	0.47483	0.10570033243001774	0.10500	0.375511120277	0.39009	.	.	.	0.048918	0.28854	T	-0.425383	0.01582	T	-0.381614	0.35533	T	0.0326731065889735	0.02417	T	.	.	.	0.4383027	0.63293	0.36885592	0.62167	0.4383027	0.63293	0.36885592	0.62167	-13.135	0.89911	D	.	.	0.219	0.49557	B	.;.;.;.	.;.;.;.	4.062583	0.60295	24.2	0.99710250594401861	0.81283	0.92348	0.55504	D	AEFBI	0.452857	0.50624	N	0.456740576572804	0.64585	4.716573	0.423201915967778	0.63015	4.527004	0.895313921528195	0.25951	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	3.491000	0.53015	7.242000	0.57903	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.889000	0.42754	1.0:0.0:0.0:0.0	9.776	0.39786	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	33	chr5	179848051	.	A	C	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.334;SOR=0.752	GT:AD:DP:GQ:PL	0/1:29,30:59:99:679,0,724	9	0	1	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W,TRIM7:NM_203293:exon7:c.C1348T:p.R450W,TRIM7:NM_203294:exon7:c.C724T:p.R242W,TRIM7:NM_203295:exon7:c.C724T:p.R242W,TRIM7:NM_203296:exon7:c.C724T:p.R242W	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012208	0.005263	0.006812	0.020588	0.000000	0.017544	0.003067	0.015267	0.1	1812.14	33	chr5	181195354	.	G	A	1812.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.006;SOR=0.727	GT:AD:DP:GQ:PL	0/1:24,20:44:99:589,0,595	8	0	2	0
chr6	3105554	3105554	C	A	exonic	RIPK1	.	nonsynonymous SNV	RIPK1:NM_001354931:exon8:c.C941A:p.A314D,RIPK1:NM_001354930:exon9:c.C1079A:p.A360D,RIPK1:NM_003804:exon9:c.C1079A:p.A360D,RIPK1:NM_001354932:exon10:c.C590A:p.A197D,RIPK1:NM_001354933:exon10:c.C590A:p.A197D,RIPK1:NM_001354934:exon10:c.C590A:p.A197D,RIPK1:NM_001317061:exon11:c.C590A:p.A197D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0368957835744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.291	0.20944	T	0.839	0.46454	P	0.209	0.37260	B	0.211035	0.16365	N	0.662530	0.61945	0.32692	D	2.19	0.61577	M	-1.17	0.78199	T	-0.94	0.25118	N	0.226	0.25377	-0.5123	0.68202	T	0.327	0.69513	T	10	0.1982145	0.35783	T	0.036896	0.57280	D	0.222	0.51872	0.075	0.00517	0.921689469548	0.92089	0.46873442237795304	0.46792	0.646045261288	0.58030	0.365286231041	0.20153	T	0.258067	0.62918	T	-0.0586109	0.43124	T	-0.321967	0.42360	T	0.760810077190399	0.43898	D	0.689231	0.29860	T	0.19935434	0.41872	0.17352605	0.39686	0.19935434	0.41871	0.17352605	0.39685	-3.452	0.15766	T	.	.	0.181	0.39408	B	.;.	.;.	2.095782	0.26665	17.20	0.99148923077370732	0.53765	0.66017	0.32933	D	AEFBI	0.102115	0.20493	N	0.0178851313427203	0.42667	2.575263	-0.0122447630503433	0.39161	2.31775	0.0142756002084906	0.12576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	2.8	0.31881	0.977000	0.29072	0.239000	0.16284	0.599000	0.40250	0.639000	0.28076	0.008000	0.19753	0.719000	0.34739	0.0:0.4552:0.5448:0.0	17.077	0.86464	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1311.43	35	chr6	3105554	.	C	A	1311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.958;DP=391;ExcessHet=0;FS=4.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=1.41;SOR=1.244	GT:AD:DP:GQ:PL	0/1:28,52:80:99:1323,0,676	9	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	131.78	78	chr6	7411419	.	G	C	131.78	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.634;DP=940;ExcessHet=1.5895;FS=160.175;InbreedingCoeff=-0.3345;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.831;SOR=10.2	GT:AD:DP:GQ:PL	0/1:59,18:77:15:15,0,1126	4	0	4	2
chr6	10586156	10586156	T	C	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_145655:exon1:c.T167C:p.M56T	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00678914	0.0035	9.61e-05	0.0003	0	0	2.997e-05	0	0.0251	0.0030142	466	154602	rs535308444	0.0015	0.0015	0.0007	0.0022	0.0237	0.0014	0.0014	0.0228	0.0224	8.961e-05	2.236e-05	0.0005	2.519e-05	0	0.0009	9.892e-06	0.0014	0.0237	0.0009	0.0009	0.0005	0.0014	0.0288	0.0008	0.0008	0.0249	0.0234	0	0	0	0.0006	0	0	0	1.47e-05	0	0.0288	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.05	0.08721	T	0.02	0.06739	N	0.07	0.04307	-0.9106	0.46781	T	0.004	0.01261	T	9	0.0027101636	0.00042	T	.	.	.	0.029	0.06676	.	.	0.130388298395	0.12655	.	.	.	.	0.255858838558	0.04409	T	.	.	.	-0.782518	0.00011	T	-0.879224	0.00660	T	0.0041690862256481	0.00044	T	0.10379	0.00771	T	.	.	.	.	.	.	.	.	-1.993	0.03154	T	.	.	0.079	0.07365	B	.	.	-0.036227	0.04038	0.931	0.3195687945118687	0.01827	0.07664	0.13670	N	AEFBCI	0.086801	0.17599	N	-1.30252460112498	0.03646	0.1632608	-1.26484466596924	0.04914	0.2329751	0.999660970412778	0.41534	0.493124	0.18060	0	0.601575	0.49859	0	0.694767	0.63188	0	0.613276	0.41899	0	.	.	5.58	1.39	0.21325	0.204000	0.17133	0.214000	0.15995	-0.569000	0.04791	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5833:0.2337:0.0713:0.1117	4.219	0.10004	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.030303	0.05	2250.43	35	chr6	10586156	.	T	C	2250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.875;DP=506;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.663;SOR=0.761	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2262,0,1987	9	0	1	0
chr6	20402602	20402602	-	GCG	exonic	E2F3	.	nonframeshift insertion	E2F3:NM_001949:exon1:c.370_371insGCG:p.G129_P130insG	.	324	1191	6	1	0	8	0.00334728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0023	0.0002329	36	154602	rs781324605	0.0007	0.0008	0.0004	0.0010	0.0128	0.0007	0.0007	0.0120	0.0117	4.278e-05	0	0	0.0001	0	0.0016	0.0002	0.0010	0.0128	0.0004	0.0004	0.0003	0.0005	0.0074	0.0003	0.0003	0.0054	0.0047	0.0001	0	6.732e-05	0	0	0	0.0034	0.0003	0	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	57.44	25	chr6	20402602	.	A	AGCG	57.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=213;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0567;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=1.47;SOR=2.258	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,184	9	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1640.75	71	chr6	24145554	.	C	T	1640.75	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,12:45:99:.:.:102,0,504:.	5	0	5	0
chr6	26508910	26508910	T	G	exonic	BTN1A1	.	nonsynonymous SNV	BTN1A1:NM_001732:exon8:c.T1317G:p.N439K	.	411	1110	1	0	0	1	0.000450248	.	.	.	4097975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0130990860857	0.0002	0.000399361	6.591e-05	0.0008	0	0	0	0	0	0	6.47e-05	10	154602	rs148364319	1.3e-05	1.3e-05	1.633e-05	9.625e-06	0.0004	8.31e-06	6.7e-06	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0	0	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.657e-05	7.25e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.576	0.06067	T	0.832	0.07342	T	0.02	0.18235	B	0.103	0.30945	B	0.951226	0.07657	N	1.022810	1	0.08975	N	0.36	0.11994	N	-0.31	0.68030	T	0.0	0.07008	N	0.089	0.15046	-1.0312	0.20066	T	0.034	0.14464	T	10	0.016797334	0.00356	T	0.013099	0.32235	T	0.061	0.17616	0.559	0.67821	0.353336612579	0.34937	0.36931215307837845	0.36845	0.601892447522	0.55219	0.323429882526	0.13940	T	0.068533	0.33481	T	-0.583525	0.00183	T	-0.687674	0.06525	T	0.0378672273697152	0.03308	T	0.667533	0.27667	T	0.0550944	0.10661	0.04505415	0.05978	0.0550944	0.10660	0.04505415	0.05978	-2.79	0.08092	T	.	.	0.123	0.32827	B	.;.	.;.	-1.406191	0.00356	0.006	0.17767358006170356	0.00531	0.04236	0.09758	N	AEFDBI	0.120574	0.23482	N	-1.5252916634504	0.01685	0.07371592	-1.59344354258248	0.01695	0.07700445	0.53709281849046	0.21222	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.84	-7.84	0.01061	-5.358000	0.00153	-5.063000	0.01865	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.099:0.2511:0.3051:0.3449	2.364	0.04050	563	0.71062	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1547.43	33	chr6	26508910	.	T	G	1547.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=422;ExcessHet=0;FS=3.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.24;SOR=1.136	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1559,0,1094	9	0	1	0
chr6	27400987	27400987	C	A	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.C617A:p.T206N,ZNF391:NM_001322293:exon3:c.C617A:p.T206N,ZNF391:NM_001322288:exon4:c.C617A:p.T206N,ZNF391:NM_001322289:exon4:c.C617A:p.T206N	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0082	0.0061901	0.0022	0.0249	0.0018	0	0	4.497e-05	0.0011	0	0.0021733	336	154602	rs114755441	0.0007	0.0007	0.0008	0.0006	0.0237	0.0007	0.0007	0.0224	0.0218	0.0237	0.0018	0	0	0	0.0012	4.227e-05	0.0015	6.956e-05	0.0066	0.0066	0.0069	0.0063	0.0233	0.0063	0.0061	0.0221	0.0216	0.0233	0	0.0014	0	0	0	0	8.82e-05	0.0047	0	0.047	0.40319	D	0.007	0.69154	D	0.944	0.53183	P	0.655	0.52639	P	.	.	.	.	1	0.08975	N	0.56	0.15190	N	3.19	0.07353	T	-2.12	0.48184	N	0.103	0.08646	-0.9757	0.35970	T	0.011	0.03996	T	9	0.0036744475	0.00067	T	.	.	.	0.110	0.31079	.	.	0.27855597813	0.27464	0.02127699188167222	0.02080	0.462538365587	0.45786	0.611326098442	0.54503	T	0.048566	0.28055	T	-0.717968	0.00028	T	-0.784491	0.02321	T	0.0292857124787465	0.01880	T	0.212079	0.02586	T	0.20231915	0.42272	0.239326	0.49278	0.20231915	0.42272	0.239326	0.49277	-6.892	0.53240	T	.	.	0.584	0.68223	P	.	.	3.009104	0.40238	21.1	0.97180720741461601	0.32718	0.01680	0.05366	N	AEFGBHCI	0.072838	0.14549	N	-0.169805972006157	0.34395	1.962715	-0.244313135769546	0.29967	1.683316	0.024917045281246	0.13612	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	0.039000	0.13770	1.364000	0.25903	0.524000	0.24156	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.0:0.7898:0.2102:0.0	9.846	0.40196	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	992.43	33	chr6	27400987	.	C	A	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.762;DP=379;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.378;SOR=0.851	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1004,0,913	9	0	1	0
chr6	29087019	29087019	G	A	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00178951095871	.	.	1.647e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs767546356	2.052e-06	2.052e-06	2.723e-06	1.375e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.684	0.04379	T	0.989	0.02371	T	0.034	0.20480	B	0.038	0.23361	B	0.022170	0.26687	U	0.174125	1	0.08975	N	0.01	0.07948	N	5.88	0.00632	T	-1.91	0.44471	N	0.077	0.05162	-0.9952	0.31245	T	0.000	0.00152	T	10	0.04743159	0.04060	T	0.00179	0.03063	T	0.055	0.15663	0.236	0.16608	0.297375071883	0.29337	0.22651449912282642	0.22566	0.0205895813288	0.02023	0.257685065269	0.04620	T	0.033019	0.22737	T	-0.471765	0.00829	T	-0.689733	0.06404	T	0.0444200623901237	0.04497	T	.	.	.	0.054559406	0.10483	0.12587725	0.30323	0.054559406	0.10483	0.12587725	0.30322	-4.602	0.32197	T	.	.	0.121	0.24967	B	.	.	0.937697	0.13134	9.634	0.36054590991674468	0.02298	0.01097	0.04030	N	AEFI	0.026261	0.01940	N	-0.874775260295911	0.11446	0.5523445	-0.739472399175385	0.15981	0.8432277	5.28764911934318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	3.02	0.33970	-0.520000	0.06338	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3021:0.0:0.6979:0.0	6.838	0.23132	754	0.51307	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	82.43	38	chr6	29087019	.	G	A	82.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.112;DP=622;ExcessHet=0;FS=112.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.44;SOR=6.803	GT:AD:DP:GQ:PL	0/1:140,25:169:94:94,0,3031	9	0	1	0
chr6	29725033	29725033	C	A	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098479:exon4:c.C613A:p.P205T,HLA-F:NM_018950:exon4:c.C613A:p.P205T	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00321361733172	0.0013	0.000399361	0.0003	0.0032	0.0002	0	0	0	0	0	0.0002393	37	154602	rs142311857	9.38e-05	9.371e-05	0.0001	8.397e-05	0.0030	8.1e-05	7.591e-05	0.0025	0.0023	0.0030	0.0004	0	0	0	0	8.999e-07	0.0002	4.639e-05	0.0006	0.0006	0.0007	0.0005	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0005	0	0	0	0	0	0	0	0.001	0.91255	D	0.01	0.66756	D	0.999	0.77913	D	0.924	0.65913	D	0.028753	0.25556	U	0.185313	1	0.81001	D	2.83	0.82355	M	2.47	0.14783	T	-4.59	0.78891	D	0.193	0.22486	-1.1174	0.02503	T	0.065	0.26737	T	10	0.0112665	0.00247	T	0.003214	0.07057	T	0.064	0.18567	.	.	0.327419511103	0.32360	0.22788755388502502	0.22703	1.45737370537	0.86285	0.261735677719	0.05099	T	0.293734	0.66644	T	-0.500544	0.00568	T	-0.494824	0.22886	T	0.0724126066829627	0.08986	T	0.715328	0.32778	T	0.30873558	0.53676	0.3293349	0.58814	0.30873558	0.53676	0.3293349	0.58813	-9.016	0.70003	D	.	.	0.116	0.23395	B	.;.;.	.;.;.	2.330991	0.29859	18.26	0.99493138493846722	0.67573	0.09356	0.15128	N	AEFDGBHCI	0.111855	0.22131	N	-0.205067747230101	0.32926	1.862303	-0.43852055417388	0.23876	1.304387	0.999999596953064	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.493711	0.08198	1	0.59522	0.37078	0	.	.	1.92	1.92	0.24912	0.183000	0.16729	.	.	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	7.232	0.25224	856	0.34373	.;.;.	.	.	.	.	.	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	0.001114	0.005618	0.000000	0.004902	0.000000	0.000000	0.000000	0.000000	0.05	1144.43	86	chr6	29725033	.	C	A	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.861;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.44;SOR=0.63	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1156,0,1579	9	0	1	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	23834.4	701	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	23834.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.988;DP=5966;ExcessHet=0.7463;FS=0.53;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.87;MQRankSum=0.834;QD=12.31;ReadPosRankSum=1.35;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,226:554:99:0|1:31028377_TGAGACCACCACAGCCTCTACTGAAGGCTCC_T:4453,0,12522:31028377	7	0	3	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.25	11464.1	165	chr6	31270002	.	C	T	11464.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.258;DP=1405;ExcessHet=0.2065;FS=0.534;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=59.39;MQRankSum=0.59;QD=23.4;ReadPosRankSum=1.55;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,72:123:99:.:.:2844,0,1843:.	6	1	3	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	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	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.25	4050.13	68	chr6	31270250	.	C	A	4050.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.496;DP=744;ExcessHet=0.2065;FS=1.027;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=49.57;MQRankSum=-1.008;QD=17.69;ReadPosRankSum=-1.436;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,22:66:99:0|1:31270188_G_C:719,0,1595:31270188	6	1	3	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	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	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.1	1502.14	157	chr6	31271120	.	C	G	1502.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.65;DP=1431;ExcessHet=0.2348;FS=1.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=52.39;MQRankSum=-0.146;QD=5.4;ReadPosRankSum=2.86;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,36:104:99:0|1:31271120_C_G:659,0,2289:31271120	8	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17174.2	173	chr6	31271153	.	A	*	17174.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.37;DP=1625;ExcessHet=2.4664;FS=1.091;InbreedingCoeff=-0.2;MLEAC=2;MLEAF=0.1;MQ=51.68;MQRankSum=-0.192;QD=13.25;ReadPosRankSum=-1.535;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,48:113:99:1|0:31271151_TCA_T:4731,2702,2566:31271151	8	0	2	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1070.39	121	chr6	31271334	.	G	GCC	1070.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=984;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.18;MQRankSum=0.433;QD=10.29;ReadPosRankSum=1.26;SOR=0.952	GT:AD:DP:GQ:PL	0/1:73,31:104:99:1082,0,2972	9	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1070.39	121	chr6	31271336	.	AGG	A	1070.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=983;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.15;MQRankSum=0.433;QD=10.29;ReadPosRankSum=1.19;SOR=0.952	GT:AD:DP:GQ:PL	0/1:73,31:104:99:1082,0,2972	9	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6204.3	122	chr6	31271337	.	G	*	6204.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.801;DP=993;ExcessHet=10.3881;FS=6.034;InbreedingCoeff=-0.6667;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-2.739;QD=7.63;ReadPosRankSum=-0.957;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,30:103:99:.:.:1083,0,2348:.	9	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13397.7	47	chr6	31356247	.	C	*	13397.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.58;DP=1059;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2493;MLEAC=3;MLEAF=0.15;MQ=50.89;MQRankSum=-3.36;QD=14.28;ReadPosRankSum=-1.328;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,11:96:99:0|1:31356168_A_C:206,0,3510:31356168	8	1	1	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,93:93:99:1|1:31356739_C_A:4185,280,0:31356739	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,88:136:99:0|1:31356827_T_C:5683,1992,1745:31356827	1	5	4	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,20:44:99:1|0:31412383_TG_T:2008,999,904:31412383	5	1	4	0
chr6	31505701	31505701	A	C	exonic	MICB	.	nonsynonymous SNV	MICB:NM_001289160:exon2:c.A59C:p.D20A,MICB:NM_001289161:exon2:c.A155C:p.D52A,MICB:NM_005931:exon2:c.A155C:p.D52A	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00562265162551	0.0027	0.00119808	0.0006	0.0068	0.0007	0	0	6.316e-05	0	0.0002	0.0005951	92	154602	rs202130166	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0002	0.0061	0.0058	0.0068	0.0011	0	0	0	0.0017	4.946e-05	0.0010	0.0002	0.0022	0.0022	0.0024	0.0020	0.0068	0.0020	0.0019	0.0062	0.0059	0.0068	0	0.0020	0	0	0	0.0034	0.0001	0.0038	0.0004	0.0	0.91255	D	0.004	0.76473	D	0.999	0.77913	D	0.998	0.88582	D	0.037580	0.24386	U	0.197295	1	0.08975	N	.	.	.	3.13	0.08014	T	-7.61	0.95815	D	0.573	0.60156	-1.0933	0.05005	T	0.051	0.21495	T	10	0.020665944	0.00480	T	0.005623	0.14530	T	0.138	0.37187	.	.	0.697899727133	0.69529	0.8101778300501764	0.80972	1.01152582874	0.74794	0.330769598484	0.15051	T	0.18249	0.78568	T	-0.370681	0.03559	T	-0.302761	0.44433	T	0.179321384915273	0.19192	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.60962	B	.;.;.	.;.;.	2.692106	0.35142	19.82	0.98913959519917349	0.48418	0.41487	0.26668	N	AEFGBI	0.059467	0.11232	N	0.159613803909215	0.49267	3.129094	-0.125402488680827	0.34370	1.97622	0.990274518390485	0.32098	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.68	2.68	0.30839	3.260000	0.51225	.	.	0.410000	0.20643	0.583000	0.27610	0.003000	0.18671	0.132000	0.19645	1.0:0.0:0.0:0.0	7.118	0.24607	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001638	0.000000	0.001359	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	2402.43	61	chr6	31505701	.	A	C	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=792;ExcessHet=0;FS=1.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.946;SOR=0.783	GT:AD:DP:GQ:PL	0/1:83,93:176:99:2414,0,2012	9	0	1	0
chr6	31581580	31581580	G	A	exonic	LTB	.	nonsynonymous SNV	LTB:NM_002341:exon3:c.C259T:p.L87F	.	424	1093	5	0	0	5	0.00228206	.	.	.	699521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0045	0.00219649	0.0017	0.0103	0.0036	0.0002	0.0002	0.0009	0.0023	0.0002	0.0016817	260	154602	rs4647187	0.0013	0.0013	0.0014	0.0012	0.0114	0.0012	0.0012	0.0105	0.0101	0.0114	0.0049	0.0002	0.0004	0.0004	0.0055	0.0009	0.0023	0.0003	0.0052	0.0052	0.0051	0.0053	0.0126	0.0049	0.0048	0.0117	0.0114	0.0126	0	0.0095	0	0.0021	0.0003	0.0102	0.0012	0.0071	0.0006	0.077	0.34095	T	0.197	0.27855	T	0.567	0.38485	P	0.248	0.38946	B	0.290425	0.14779	N	0.625226	0.999999	0.30616	N	.	.	.	1.93	0.22881	T	-1.08	0.28084	N	0.399	0.43995	-1.0755	0.08246	T	0.029	0.12278	T	9	0.009936571	0.00223	T	.	.	.	0.047	0.12962	.	.	0.59354303687	0.59032	0.22618342968329402	0.22533	0.44943043317	0.44730	0.37412494421	0.21422	T	0.240705	0.60908	T	-0.562179	0.00246	T	-0.570912	0.15365	T	0.015947791361668	0.00378	T	.	.	.	0.28953156	0.51949	0.16241783	0.37729	0.28953156	0.51949	0.16241783	0.37728	-5.203	0.38972	T	.	.	0.127	0.26947	B	.	.	3.033411	0.40645	21.2	0.99808313424943473	0.89264	0.57554	0.30407	D	AEFDGBCI	0.103483	0.20731	N	0.129614049849555	0.47849	3.004872	0.180457419081102	0.48777	3.089132	0.999999566504408	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	5.07	4.14	0.47821	2.137000	0.41754	.	.	0.668000	0.69082	0.879000	0.30968	1.000000	0.68203	0.882000	0.42233	0.0:0.0:0.798:0.2019	9.978	0.40968	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004357	0.010101	0.004076	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	424.43	36	chr6	31581580	.	G	A	424.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.913;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.205;SOR=0.736	GT:AD:DP:GQ:PL	0/1:23,17:40:99:436,0,566	9	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,28:98:99:0|1:31625601_T_C:614,0,2409:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,28:98:99:0|1:31625601_T_C:614,0,2409:31625601	0	0	10	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	35	chr6	32084509	.	T	C	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.794;DP=508;ExcessHet=0.2348;FS=119.95;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.59;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,16:101:79:0|1:32084509_T_C:79,0,3214:32084509	8	0	2	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	673.9	287	chr6	32521967	.	G	*	673.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=2106;ExcessHet=0.0405;FS=15.075;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=36.61;MQRankSum=-2.018;QD=1.8;ReadPosRankSum=-3.226;SOR=1.124	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,125:125:99:1|1:32521957_G_A:5417,376,0:32521957	8	1	1	0
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	31062.1	286	chr6	32521972	.	G	*	31062.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.479;DP=2055;ExcessHet=0.2065;FS=8.28;InbreedingCoeff=0.2;MLEAC=3;MLEAF=0.15;MQ=52.88;MQRankSum=-7.035;QD=19.62;ReadPosRankSum=0.444;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:32521957_G_A:4590,307,0:32521957	8	1	1	0
chr6	32521974	32521975	GC	0	exonic	HLA-DRB5	.	.	.	.	23	1037	300	132	30	594	0.213798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7781.7	277	chr6	32521974	.	GC	*	7781.7	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.78;DP=2002;ExcessHet=0.6204;FS=16.887;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=52.08;MQRankSum=-2.734;QD=9.01;ReadPosRankSum=-0.466;SOR=1.622	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:32521957_G_A:4590,307,0:32521957	9	1	0	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3048.87	115	chr6	32522157	.	C	*	3048.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.393;DP=1171;ExcessHet=0.0305;FS=0.797;MLEAC=2;MLEAF=0.125;MQ=51.64;MQRankSum=-3.602;QD=7.78;ReadPosRankSum=1.17;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:45:99:0|1:32522157_C_*:1890,1470,1440:32522157	6	0	2	2
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3006.87	115	chr6	32522159	.	T	*	3006.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.892;DP=1172;ExcessHet=0.0305;FS=0.382;MLEAC=2;MLEAF=0.125;MQ=51.61;MQRankSum=-3.602;QD=7.65;ReadPosRankSum=1.22;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:45:99:0|1:32522157_C_*:1890,1470,1440:32522157	6	0	2	2
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:81:1|1:32530183_CTT_C:1166,81,0:32530183	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:81:1|1:32530183_CTT_C:1166,81,0:32530183	5	3	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,121:204:99:.:.:8566,3485,3121:.	5	1	4	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	26398.6	196	chr6	32584177	.	CG	*	26398.6	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1758;ExcessHet=0.0657;FS=0.744;InbreedingCoeff=0.3939;MLEAC=3;MLEAF=0.15;MQ=51.98;MQRankSum=3.87;QD=25.38;ReadPosRankSum=2.53;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,82:211:99:.:.:8860,5417,5170:.	7	0	3	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:211:99:.:.:5805,388,0:.	4	3	3	0
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.15	10222.5	423	chr6	32584280	.	C	G	10222.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.414;DP=3898;ExcessHet=0.7463;FS=0.606;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.24;MQRankSum=0.958;QD=7.05;ReadPosRankSum=0.636;SOR=0.721	GT:AD:DP:GQ:PL	0/1:336,106:442:99:1790,0,11736	7	0	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,161:254:99:.:.:10890,3920,3420:.	3	0	7	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,16:197:99:0|1:32641430_C_T:127,0,7552:32641430	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,16:197:99:0|1:32641430_C_T:127,0,7552:32641430	4	2	4	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	24716.5	74	chr6	32666525	.	A	*	24716.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.75;DP=862;ExcessHet=0.2348;FS=0.765;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=28.91;ReadPosRankSum=0.933;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,38:89:99:0|1:32666525_A_G:3728,2138,2069:32666525	7	1	2	0
chr6	33725457	33725457	C	T	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon5:c.G749A:p.R250H,IP6K3:NM_001142883:exon6:c.G749A:p.R250H	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0372862837944	.	0.000599042	8.633e-05	0	8.985e-05	0.0001	0	0	0	0.0005	8.41e-05	13	154602	rs537814047	7.884e-05	8.072e-05	6.55e-05	9.231e-05	0.0004	6.681e-05	6.214e-05	0.0003	0.0003	0	0.0002	0	5.039e-05	0	0.0002	6.027e-05	3.313e-05	0.0004	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.542e-05	0	0.0002	0	0	0	0	0.0008	0.001	0.78490	D	0.01	0.65728	D	1.0	0.90584	D	0.98	0.74843	D	0.000051	0.53742	N	0.081645	1	0.81001	D	3.615	0.93875	H	1.89	0.23688	T	-4.44	0.77637	D	0.983	0.99260	-0.3500	0.73554	T	0.240	0.60738	T	10	0.90196383	0.89559	D	0.037286	0.57522	D	0.598	0.84074	0.935	0.99047	0.70357419934	0.70100	0.711571797505311	0.71099	0.836942912249	0.67851	0.655955910683	0.60831	T	0.150628	0.49018	T	0.0289462	0.55584	T	0.161287	0.80884	D	0.877320170402527	0.52721	D	0.999644	0.99868	D	0.79140246	0.83361	0.7133926	0.83088	0.79140246	0.83362	0.7133926	0.83089	-11.53	0.82486	D	.	.	0.885	0.81758	P	.;.	.;.	5.598879	0.92440	32	0.99957348016346304	0.99981	0.99670	0.98521	D	AEFDBI	0.953912	0.97060	D	1.04357448132592	0.96936	15.35066	0.971033785888951	0.97984	17.16936	0.999999999999997	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	7.870000	0.85529	7.555000	0.60355	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.832	0.96635	663	0.61610	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	709.43	35	chr6	33725457	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.992;DP=371;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.115;SOR=0.294	GT:AD:DP:GQ:PL	0/1:26,30:56:99:721,0,680	9	0	1	0
chr6	35239871	35239871	C	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon8:c.C946G:p.Q316E,SCUBE3:NM_152753:exon8:c.C949G:p.Q317E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0052	0.00439297	0.0020	0.0150	0.0020	0	0	0.0008	0.0023	0.0002	0.0019146	296	154602	rs35847323	0.0011	0.0011	0.0012	0.0011	0.0152	0.0011	0.0011	0.0141	0.0136	0.0152	0.0027	0.0014	0	0	0.0027	0.0008	0.0022	0.0001	0.0050	0.0050	0.0051	0.0049	0.0151	0.0047	0.0046	0.0142	0.0138	0.0151	0	0.0035	0.0026	0	0	0.0102	0.0007	0.0071	0	0.12	0.27904	T	0.272	0.22223	T	0.988	0.62325	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.05	0.08135	N	-2.23	0.87116	D	-2.0	0.46146	N	0.756	0.75466	0.080	0.83809	D	0.571	0.84458	D	10	0.016492635	0.00348	T	.	.	.	0.395	0.71004	.	.	0.79306112714	0.79113	0.8303890678036987	0.82997	1.81151216937	0.91805	0.726714015007	0.71027	T	0.360653	0.72686	T	-0.288765	0.09759	T	-0.174593	0.57021	T	0.0378166368876159	0.03299	T	0.889511	0.62170	D	0.35742292	0.57639	0.27449015	0.53377	0.35742292	0.57640	0.27449015	0.53376	-9.462	0.70622	D	.	.	0.115	0.22861	B	.	.	5.099969	0.85202	28.5	0.99126618432851732	0.53142	0.98585	0.84383	D	AEFDGBI	0.954704	0.97201	D	0.575891288524969	0.71671	5.686588	0.634439794025218	0.77459	6.683007	1.0	0.98316	0.740787	0.97801	0	0.547309	0.14657	0	0.877121	0.99996	0	0.673998	0.66042	0	.	.	5.66	5.66	0.87293	7.905000	0.86479	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	19.750	0.96260	248	0.90287	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006073	0.025253	0.005435	0.000000	0.000000	0.017241	0.003125	0.000000	0.05	1161.43	34	chr6	35239871	.	C	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.291;DP=417;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.78;SOR=0.573	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1173,0,1228	9	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.05	1366.43	34	chr6	36319517	.	G	A	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.697;DP=418;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.72;SOR=0.537	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1378,0,1095	9	0	1	0
chr6	36721185	36721185	-	AGGCTGCCTCCCCTGAGA	exonic	RAB44	.	nonframeshift insertion	RAB44:NM_001257357:exon9:c.1051_1052insAGGCTGCCTCCCCTGAGA:p.E356_E357insKAASPE	.	0	194	30	0	2	32	0.0717703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129792	0.0059	0.0192	0	0	0	0.0011	0.0714	0	0.0006147	16	26028	rs376539816	0.0010	0.0007	0.0011	0.0009	0.0354	0.0009	0.0009	0.0333	0.0325	0.0354	0.0030	0	0.0002	0	0.0029	0.0001	0.0025	0.0002	0.0090	0.0091	0.0091	0.0089	0.0310	0.0086	0.0084	0.0296	0.0290	0.0310	0	0.0044	0	0.0006	0	0.0034	0.0002	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4577.48	71	chr6	36721185	.	C	CAGGCTGCCTCCCCTGAGA	4577.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.278;DP=547;ExcessHet=2.8389;FS=4.333;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.223;SOR=0.917	GT:AD:DP:GQ:PL	0/1:31,25:56:99:956,0,1208	9	0	1	0
chr6	38908034	38908034	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon63:c.C8776T:p.R2926C,DNAH8:NM_001206927:exon64:c.C9427T:p.R3143C	.	.	.	.	.	.	.	.	.	.	.	634913	Spermatogenic_failure_46|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0448554868776	0.0002	0.000199681	5.795e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs151313083	6.027e-05	6.02e-05	6.951e-05	5.094e-05	0.0016	4.967e-05	4.632e-05	0.0013	0.0012	0.0016	8.975e-05	0	0	1.879e-05	0.0003	1.44e-05	0.0002	0	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0003	0.0012	0.0010	0.0014	0	0.0004	0	0	0	0.0034	2.94e-05	0.0005	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	1.58	0.29085	T	-7.53	0.95131	D	0.724	0.73555	-0.6765	0.61534	T	0.179	0.52489	T	10	0.2962436	0.47190	T	0.044855	0.61695	D	0.230	0.53062	.	.	0.768606373302	0.76648	0.5820628750730588	0.58135	0.672642297793	0.59544	0.668417453766	0.62611	T	0.145224	0.48224	T	-0.197819	0.21119	T	-0.0759436	0.65198	T	0.424587418856119	0.29860	T	0.985101	0.94867	D	0.6501636	0.75373	0.5621398	0.74663	0.6501636	0.75374	0.5621398	0.74664	-10.276	0.75548	D	.	.	0.449	0.62167	A	.;.;.	.;.;.	4.042093	0.59845	24.1	0.99915303256611754	0.98379	0.93565	0.58564	D	AEFI	0.503202	0.53529	D	0.821108374810118	0.87406	9.207452	0.751418909711316	0.86263	8.833533	0.963018084123763	0.28662	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.883000	0.55880	4.864000	0.45499	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.857000	0.40602	0.1386:0.8614:0.0:0.0	15.534	0.75723	678	0.60190	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	442.43	36	chr6	38908034	.	C	T	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.575;DP=356;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=2.75;SOR=0.446	GT:AD:DP:GQ:PL	0/1:19,22:41:99:454,0,395	9	0	1	0
chr6	39026654	39026654	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon91:c.C13172T:p.T4391M,DNAH8:NM_001206927:exon92:c.C13823T:p.T4608M	.	.	.	.	.	.	.	.	.	.	.	395182	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0015	0.00159744	0.0005	0.0053	0.0004	0	0	1.511e-05	0	0	0.0004398	68	154602	rs142438011	0.0001	0.0001	0.0002	0.0001	0.0041	0.0001	0.0001	0.0036	0.0033	0.0041	0.0003	0	0	0	0.0002	1.439e-05	0.0004	5.799e-05	0.0016	0.0016	0.0015	0.0017	0.0056	0.0014	0.0014	0.0050	0.0048	0.0056	0	0.0006	0	0	0	0	0	0.0009	0	0.064	0.36509	T	.	.	.	0.65	0.40644	P	0.569	0.49832	P	0.010018	0.30104	N	0.330753	0.899	0.36122	D	2.765	0.80766	M	3.02	0.08986	T	-2.66	0.56945	D	0.263	0.29774	-1.1379	0.01439	T	0.025	0.10598	T	10	0.0058651567	0.00131	T	.	.	.	0.106	0.30130	.	.	0.711946693247	0.70942	0.3993011695767112	0.39845	0.402848295305	0.41231	0.350839138031	0.18045	T	0.053906	0.29574	T	-0.594734	0.00157	T	-0.624736	0.10818	T	0.04610653272596	0.04802	T	0.649735	0.26051	T	0.06971989	0.15299	0.20986404	0.45349	0.07032313	0.15481	0.23570603	0.48821	-5.653	0.43273	T	.	.	0.080	0.08129	B	.;.	.;.	0.408986	0.07802	4.490	0.99490361585142217	0.67403	0.12416	0.17255	N	AEFBI	0.103062	0.20659	N	-0.210096819219514	0.32720	1.848298	-0.347618420090077	0.26583	1.469261	0.136769193473132	0.17197	0.549168	0.22868	0	0.627178	0.54094	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	1.88	0.24630	0.233000	0.17689	-0.113000	0.11807	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.0:0.6936:0.0:0.3064	9.981	0.40986	768	0.49510	Dynein heavy chain domain;Dynein heavy chain 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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	33	chr6	39026654	.	C	T	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.752;DP=471;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.342;SOR=0.595	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1747,0,1775	9	0	1	0
chr6	39357340	39357340	G	C	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon6:c.C470G:p.T157R,KIF6:NM_001351566:exon6:c.C470G:p.T157R,KIF6:NM_001289020:exon18:c.C2066G:p.T689R,KIF6:NM_001289021:exon18:c.C1949G:p.T650R,KIF6:NM_145027:exon19:c.C2117G:p.T706R	.	.	.	.	.	.	.	.	.	.	.	3991089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.0121838086423	0.0002	0.000399361	3.296e-05	0.0002	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs201592417	1.574e-05	1.573e-05	1.634e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	2.698e-06	4.968e-05	0	0.0001	0.0001	6.426e-05	0.0002	0.0004	8.662e-05	7.255e-05	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0	0	0	0.11	0.29158	T	0.402	0.51421	T	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.53	0.70833	T	-0.78	0.38345	N	0.07	0.12055	-1.0818	0.07003	T	0.056	0.23715	T	9	0.016656876	0.00352	T	0.012184	0.30521	T	0.060	0.17295	.	.	0.318828661733	0.31499	0.2846215029800656	0.28375	0.0692597278946	0.07753	0.20354488492	0.00567	T	0.00392	0.03333	T	-0.348736	0.04807	T	-0.422555	0.30783	T	0.0125838558485906	0.00209	T	0.662434	0.27137	T	0.0703928	0.15502	0.0650175	0.13116	0.0703928	0.15502	0.0650175	0.13116	-3.37	0.16940	T	.	.	0.057	0.00861	B	.;.;.;.	.;.;.;.	-1.722764	0.00185	0.003	0.6686489316756109	0.08184	0.00360	0.01845	N	AEFDBI	0.091233	0.18482	N	-1.72732340334161	0.00749	0.03235795	-1.84259227394559	0.00632	0.0280931	0.508146561241369	0.20997	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.0	-7.77	0.01090	-1.221000	0.03077	-3.299000	0.02895	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.2354:0.1361:0.495:0.1335	4.132	0.09621	907	0.22727	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1393.43	36	chr6	39357340	.	G	C	1393.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=588;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.03;SOR=0.547	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1405,0,1319	9	0	1	0
chr6	39906488	39906488	G	C	exonic	MOCS1	.	nonsynonymous SNV	MOCS1:NM_001358529:exon10:c.C1732G:p.L578V,MOCS1:NM_001358531:exon10:c.C1519G:p.L507V,MOCS1:NM_001358530:exon11:c.C1780G:p.L594V	Molybdenum cofactor deficiency A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2030077	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A|not_provided	MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.439	.	.	0.00199681	0.0004	0	0	0	0	0	0	0.0032	0.000401	62	154602	rs577245246	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	0	0	8.993e-07	0.0001	0.0032	0.0001	0.0001	7.707e-05	0.0002	0.0043	9.14e-05	7.697e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.016	0.52492	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.000000	0.549588	0.81001	D	4.305	0.98282	H	0.57	0.61443	T	-2.2	0.49519	N	0.757	0.79792	-0.5196	0.67929	T	0.270	0.64162	T	9	0.044270813	0.03365	T	.	.	.	0.439	0.74306	0.879	0.96784	0.757187420261	0.75498	0.6643614276299226	0.66373	.	.	0.621442735195	0.55933	T	0.520775	0.83237	D	-0.129686	0.31545	T	0.038203	0.72810	D	0.298174918868721	0.24928	T	0.996975	0.98834	D	0.23927979	0.46816	0.22516109	0.47452	0.20602609	0.42763	0.20567726	0.44747	-10.936	0.80463	D	0.7033797979206674	0.78265	0.275	0.50853	B	.;.	.;.	3.667385	0.52131	23.2	0.99796521115117709	0.88194	0.96153	0.67775	D	AEFDGBI	0.666379	0.63487	D	0.422394394680258	0.62654	4.48506	0.384920752703091	0.60634	4.253243	0.999927433918531	0.46280	0.719381	0.83141	0	0.547309	0.14657	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.34	3.54	0.39650	3.573000	0.53600	5.099000	0.47419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2282:0.0:0.7718:0.0	9.789	0.39862	851	0.35303	.;Molybdopterin cofactor biosynthesis C (MoaC) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2024.43	36	chr6	39906488	.	G	C	2024.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=488;ExcessHet=0;FS=2.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.855;SOR=0.496	GT:AD:DP:GQ:PL	0/1:62,87:149:99:2036,0,1501	9	0	1	0
chr6	41061555	41061555	C	A	exonic	APOBEC2	.	nonsynonymous SNV	APOBEC2:NM_006789:exon2:c.C359A:p.T120N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0530840902267	0.0069	0.00219649	0.0050	0.0018	0.0022	0.0001	0.0020	0.0074	0.0044	0.0033	0.0051746	800	154602	rs41273362	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0013	0.0023	0.0097	2.519e-05	0.0014	0.0012	0.0096	0.0082	0.0032	0.0049	0.0049	0.0056	0.0042	0.0084	0.0046	0.0045	0.0079	0.0076	0.0017	0	0.0024	0.0066	0	0.0012	0	0.0084	0.0038	0.0054	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.605	0.93784	H	0.52	0.55266	T	-4.59	0.78891	D	0.912	0.91391	-0.1959	0.77777	T	0.371	0.73016	T	10	0.03181091	0.01321	T	0.053084	0.65328	D	0.565	0.82232	.	.	0.805687181342	0.80387	0.889782823350155	0.88948	0.389843987297	0.40208	0.674383044243	0.63464	T	0.427369	0.77687	T	-0.290434	0.09593	T	-0.18057	0.56472	T	0.0390108040909898	0.03513	T	0.908009	0.67517	D	0.9353074	0.94771	0.8438327	0.91092	0.9353074	0.94771	0.8438327	0.91092	-9.493	0.70815	D	.	.	0.634	0.70263	P	.	.	4.242199	0.64330	24.7	0.99447075209479496	0.65071	0.99494	0.96712	D	AEFBI	0.851594	0.76846	D	0.900666441432376	0.91791	11.06694	0.854515918504477	0.93278	11.93798	0.999999999999994	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.69	5.69	0.88346	5.806000	0.68817	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.793	0.91946	480	0.77422	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	rs41273362	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2023.43	42	chr6	41061555	.	C	A	2023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.311;DP=623;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.851;SOR=0.854	GT:AD:DP:GQ:PL	0/1:81,88:169:99:2035,0,2030	9	0	1	0
chr6	43187720	43187720	G	C	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1589C:p.G530A	.	474	1030	17	1	0	19	0.00913901	.	.	.	2823052	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	.	0.0081	0.00419329	0.0072	0.0024	0.0037	0	0.0132	0.0103	0.0112	0.0016	0.007322	1132	154602	rs61739483	0.0091	0.0091	0.0092	0.0090	0.0111	0.0090	0.0089	0.0101	0.0100	0.0018	0.0046	0.0141	0	0.0108	0.0111	0.0103	0.0083	0.0015	0.0069	0.0069	0.0069	0.0069	0.0098	0.0066	0.0064	0.0092	0.0089	0.0020	0.0055	0.0050	0.0130	0.0002	0.0140	0.0068	0.0098	0.0104	0.0008	0.085	0.32929	T	0.029	0.54541	D	0.009	0.15093	B	0.004	0.10090	B	0.050672	0.02015	N	1.987250	1	0.08975	N	1.935	0.51832	L	-0.64	0.72125	T	-0.47	0.15178	N	0.112	0.09914	-1.0106	0.26729	T	0.099	0.36856	T	10	0.004929602	0.00106	T	.	.	.	0.124	0.34239	.	.	0.379559396232	0.37572	0.22434815014933449	0.22349	0.36479059056	0.38090	0.228973686695	0.01893	T	0.08527	0.37465	T	-0.525845	0.00406	T	-0.515792	0.20722	T	0.00875300935803619	0.00108	T	0.464354	0.13557	T	0.03551936	0.04196	0.043465547	0.05414	0.03551936	0.04196	0.043465547	0.05414	-3.919	0.22587	T	.	.	0.101	0.24599	B	.;.	.;.	0.780912	0.11512	8.110	0.92500138968775358	0.21936	0.60493	0.31211	D	AEFDBI	0.068857	0.13603	N	-0.532126256349192	0.21048	1.114139	-0.466610946254928	0.23079	1.256802	0.999441453182413	0.39736	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.61	0.888	0.18340	0.965000	0.28916	1.505000	0.26983	-0.169000	0.11342	0.763000	0.29277	0.888000	0.27792	0.487000	0.28723	0.4113:0.1688:0.2488:0.1712	0.723	0.00884	309	0.87553	.;.	.	.	.	.	rs61739483	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.000000	0.008152	0.008772	0.050000	0.060345	0.009146	0.003788	0.05	913.43	36	chr6	43187720	.	G	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=408;ExcessHet=0;FS=5.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.847;SOR=1.341	GT:AD:DP:GQ:PL	0/1:44,34:78:99:925,0,1142	9	0	1	0
chr6	43206170	43206170	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.C4957G:p.Q1653E	.	3	1493	25	1	0	27	0.00896117	.	.	.	2823056	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	.	0.0035	0.00419329	0.0073	0.0024	0.0040	0	0.0134	0.0103	0.0115	0.0016	0.0067916	1050	154602	rs142418416	0.0089	0.0089	0.0090	0.0087	0.0113	0.0087	0.0087	0.0098	0.0097	0.0018	0.0046	0.0139	0	0.0108	0.0113	0.0099	0.0081	0.0015	0.0068	0.0068	0.0068	0.0068	0.0096	0.0065	0.0063	0.0090	0.0087	0.0020	0.0055	0.0052	0.0130	0.0002	0.0138	0.0068	0.0096	0.0099	0.0010	0.044	0.41096	D	0.116	0.36497	T	0.003	0.11197	B	0.009	0.14300	B	0.000402	0.44736	N	0.233673	0.814351	0.36934	D	1.68	0.43186	L	-0.74	0.73205	T	-1.4	0.34596	N	0.308	0.34767	-0.7110	0.59903	T	0.204	0.56114	T	10	0.0067023337	0.00152	T	.	.	.	0.110	0.31079	.	.	0.409069985131	0.40521	0.3891948001785718	0.38834	0.489810199868	0.47734	0.363035976887	0.19827	T	0.232361	0.59890	T	-0.378587	0.03180	T	-0.304914	0.44203	T	0.0123168712985461	0.00200	T	0.845015	0.53247	T	0.2174411	0.44227	0.2518575	0.50804	0.2174411	0.44227	0.2518575	0.50803	-8.452	0.64111	D	.	.	0.107	0.19998	B	.;.	.;.	2.846380	0.37571	20.5	0.97788199928553543	0.35982	0.97264	0.73666	D	AEFBI	0.508009	0.53807	D	-0.00229966961702252	0.41752	2.503011	0.164421785088642	0.47911	3.014347	0.979522052657067	0.30037	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	4.31	0.50718	4.687000	0.61396	6.087000	0.53406	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8646:0.1354:0.0	17.385	0.87303	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010585	0.000000	0.008152	0.008772	0.050000	0.051724	0.009202	0.007576	0.05	855.43	35	chr6	43206170	.	C	G	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.9;DP=365;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.558;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,22:41:99:0|1:43206169_C_A:867,0,711:43206169	9	0	1	0
chr6	43369254	43369254	G	C	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon1:c.C112G:p.R38G	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.701909178479	.	0.000199681	0.0023	0	.	0	.	0	0	0.0028	0.0002846	44	154602	rs535382812	0.0049	0.0042	0.0049	0.0049	0.0050	0.0048	0.0047	0.0049	0.0049	0.0006	0.0009	0.0012	0	0.0218	0.0003	0.0050	0.0034	0.0015	0.0040	0.0040	0.0031	0.0049	0.0041	0.0037	0.0036	0.0037	0.0035	0.0005	0	0.0007	0.0012	0	0.0277	0.0034	0.0041	0.0038	0.0017	0.013	0.53900	D	0.613	0.07617	T	0.351	0.33667	B	0.023	0.19966	B	.	.	.	.	0.923464	0.27237	N	0.895	0.22405	L	4.19	0.02716	T	0.32	0.03955	N	0.269	0.30461	-0.8954	0.48446	T	0.002	0.00707	T	9	0.0040543973	0.00079	T	0.701909	0.97562	D	0.020	0.03691	.	.	0.12205267543	0.11705	0.30220818813039835	0.30133	0.0794955650032	0.08942	0.886402606964	0.94805	D	0.012493	0.10973	T	-0.526165	0.00405	T	-0.528309	0.19456	T	0.135818778229718	0.15910	T	0.458554	0.13215	T	0.113286674	0.26757	0.20436041	0.44557	0.113286674	0.26757	0.20436041	0.44556	-5.332	0.40259	T	.	.	0.193	0.41357	B	.	.	3.531200	0.49542	22.8	0.88211510470192345	0.17801	0.34168	0.25003	N	AEFDBHCIJ	0.092393	0.18706	N	-0.469136645120474	0.23096	1.237899	-0.411232128573418	0.24668	1.352094	0.999999338538378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.87	1.96	0.25203	1.032000	0.29786	6.493000	0.55764	0.407000	0.20612	0.882000	0.31029	1.000000	0.68203	0.647000	0.32611	0.0:0.0:0.7292:0.2708	7.043	0.24210	268	0.89479	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	205.43	33	chr6	43369254	.	G	C	205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=308;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.333;SOR=0.936	GT:AD:DP:GQ:PL	0/1:15,10:25:99:217,0,329	9	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:59,31:90:99:144,0,965	1	0	6	3
chr6	44273490	44273490	C	G	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon2:c.C560G:p.A187G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0180417461878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.185e-07	6.84e-07	0	1.46e-06	1.264e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.021	0.58089	D	0.964	0.90584	D	0.741	0.84481	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	.	.	.	-2.66	0.56945	D	0.638	0.65074	-0.0862	0.80413	T	0.463	0.79190	T	9	0.6321286	0.68577	D	0.018042	0.39967	T	0.307	0.62838	0.688	0.82558	0.136095386433	0.13204	0.6023350358830468	0.60164	.	.	0.834941506386	0.87321	D	0.221172	0.58467	T	0.246127	0.78236	D	0.115768	0.77953	D	0.985315203666687	0.76346	D	0.953605	0.82243	D	0.4454949	0.63755	0.39673615	0.64307	0.4454949	0.63756	0.39673615	0.64307	-10.674	0.77840	D	.	.	0.875	0.81170	P	.;.	.;.	5.070418	0.84568	28.3	0.99591846072432055	0.73631	0.98689	0.85611	D	AEFDBI	0.936379	0.93263	D	0.76430280005146	0.83832	8.122137	0.729708723173651	0.84635	8.346977	0.999999999999996	0.74766	0.695654	0.57023	0	0.563428	0.19063	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	7.718000	0.83709	7.712000	0.66855	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	18.453	0.90657	584	0.69381	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1004.43	33	chr6	44273490	.	C	G	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.261;DP=355;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=-0.376;SOR=1.593	GT:AD:DP:GQ:PL	0/1:16,35:51:99:1016,0,397	9	0	1	0
chr6	47681503	47681503	C	A	exonic	ADGRF2	.	nonsynonymous SNV	ADGRF2:NM_001368115:exon6:c.C944A:p.T315N,ADGRF2:NM_153839:exon7:c.C740A:p.T247N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00678296627839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	4.104e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.102	0.39492	T	0.996	0.70673	D	0.883	0.66185	P	0.001742	0.38106	N	0.183845	0.951974	0.26454	N	.	.	.	0.97	0.42502	T	-1.54	0.37955	N	0.346	0.46928	-1.0184	0.24236	T	0.108	0.39295	T	10	0.15124267	0.28591	T	0.006783	0.17925	T	0.083	0.24192	0.306	0.27646	0.259761712551	0.25597	0.41618726711975756	0.41534	0.0251822954519	0.02561	0.342235088348	0.16772	T	0.023671	0.18025	T	-0.203169	0.20349	T	-0.529614	0.19324	T	0.61580902338028	0.37035	D	0.578742	0.20864	T	0.07447951	0.16716	0.09268537	0.21856	0.07447951	0.16716	0.09268537	0.21856	-5.427	0.41178	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.992254	0.13703	10.24	0.98900404800908159	0.48181	0.46946	0.27873	N	AEFI	0.121689	0.23647	N	0.104803147850789	0.46685	2.905258	-0.0162456225995629	0.38980	2.304461	0.00322967831008175	0.10001	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	4.35	0.51454	1.192000	0.31759	-0.678000	0.07901	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.0:0.7642:0.1539:0.0819	8.517	0.32414	477	0.77662	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2292.43	103	chr6	47681503	.	C	A	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.888;DP=1414;ExcessHet=0;FS=4.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.718;SOR=0.736	GT:AD:DP:GQ:PL	0/1:76,91:167:99:2304,0,2001	9	0	1	0
chr6	53013697	53013708	GCAACGGGCTTG	-	exonic	CILK1	.	nonframeshift deletion	CILK1:NM_001375397:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_001375402:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_014920:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_001375398:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375400:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375401:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_016513:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375399:exon11:c.1106_1117del:p.P369_L372del	.	0	1513	9	0	0	9	0.0029654	.	.	.	586698	Endocrine-cerebro-osteodysplasia_syndrome|Epilepsy,_juvenile_myoclonic,_susceptibility_to,_10|not_specified|CILK1-related_disorder|not_provided	MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332|MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0057	0.00339457	0.0074	0.0025	0.0030	0	0.0077	0.0104	0.0055	0.0051	0.0011526	30	26028	rs201964851	0.0095	0.0097	0.0098	0.0092	0.0109	0.0093	0.0093	0.0107	0.0107	0.0009	0.0033	0.0044	0	0.0091	0.0017	0.0109	0.0086	0.0049	0.0061	0.0061	0.0063	0.0059	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0	0.0050	0.0026	0	0.0068	0	0.0096	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1679.39	39	chr6	53013696	.	AGCAACGGGCTTG	A	1679.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.7;DP=439;ExcessHet=0;FS=7.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.701;SOR=0.995	GT:AD:DP:GQ:PL	0/1:80,46:126:99:1691,0,3199	9	0	1	0
chr6	56592246	56592246	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon30:c.A4970G:p.K1657R,DST:NM_001374730:exon40:c.A5948G:p.K1983R,DST:NM_183380:exon40:c.A5948G:p.K1983R,DST:NM_001144770:exon41:c.A6068G:p.K2023R,DST:NM_001144769:exon43:c.A6482G:p.K2161R,DST:NM_001374729:exon45:c.A12206G:p.K4069R,DST:NM_001374722:exon49:c.A12839G:p.K4280R,DST:NM_001374734:exon49:c.A12866G:p.K4289R,DST:NM_001374736:exon49:c.A12839G:p.K4280R	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	787366	not_provided|DST-related_disorder|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.00326567700318	0.0038	0.00239617	0.0033	0.0011	0.0010	0.0003	0.0048	0.0043	0.0063	0.0028	0.0029495	456	154602	rs186813964	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0042	0.0006	0.0012	0.0007	7.568e-05	0.0045	0.0016	0.0044	0.0029	0.0024	0.0028	0.0028	0.0029	0.0028	0.0046	0.0026	0.0025	0.0040	0.0038	0.0011	0	0.0010	0.0006	0.0002	0.0043	0	0.0044	0.0024	0.0046	0.144	0.43393	T	.	.	.	0.004	0.12183	B	0.012	0.16012	B	0.010236	0.30012	N	0.226724	.	.	.	.	.	.	1.35	0.34648	T	-2.23	0.50012	N	0.172	0.21580	-1.0708	0.09238	T	0.042	0.18076	T	9	0.005561888	0.00123	T	0.003266	0.07207	T	0.025	0.05312	.	.	0.291402777868	0.28757	0.2731268755976801	0.27225	0.0975165906878	0.11011	0.39683637023	0.24628	T	0.033204	0.22814	T	-0.49675	0.00596	T	-0.483294	0.24097	T	0.0176732326785334	0.00499	T	0.822018	0.50011	T	.	.	.	.	.	.	.	.	-5.498	0.43210	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.602758	0.20489	14.77	0.95116286782943249	0.26208	0.88405	0.48318	D	AEFBI	0.193932	0.32103	N	-0.368328530148326	0.26605	1.453204	-0.208193138218174	0.31240	1.766179	0.999397119206064	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	3.23	0.36150	1.129000	0.30994	0.659000	0.20486	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.883000	0.42306	0.0:0.1428:0.0:0.8572	10.214	0.42335	245	0.90404	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1060.43	38	chr6	56592246	.	T	C	1060.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=1.05;SOR=0.622	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1072,0,1105	9	0	1	0
chr6	70668040	70668040	G	A	exonic	SMAP1	.	nonsynonymous SNV	SMAP1:NM_001044305:exon1:c.G17A:p.C6Y,SMAP1:NM_001281439:exon1:c.G17A:p.C6Y,SMAP1:NM_021940:exon1:c.G17A:p.C6Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.172439895136	.	.	3.904e-05	0	0	0	0	7.176e-05	0	0	1.94e-05	3	154602	rs753923496	3.174e-05	3.147e-05	3.433e-05	2.913e-05	3.975e-05	2.433e-05	2.176e-05	3.013e-05	2.683e-05	0	0	0	0	0	0	3.975e-05	3.343e-05	0	6.574e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.029	0.45756	D	0.051	0.55341	T	0.969	0.56768	D	0.558	0.49494	P	0.045629	0.23517	N	0.448085	0.88373	0.35804	D	0	0.06538	N	2.28	0.21865	T	-1.01	0.26639	N	0.305	0.34444	-1.0623	0.11190	T	0.045	0.19316	T	10	0.22296	0.39062	T	0.17244	0.84942	D	0.105	0.29889	0.28	0.23483	0.117191471859	0.11215	0.7454368369057555	0.74489	2.59650284428	0.98161	0.846943676472	0.89153	D	0.023929	0.18176	T	-0.271575	0.11583	T	-0.462019	0.26380	T	0.359811126570356	0.27402	T	0.945605	0.79272	D	0.3051532	0.53363	0.5257476	0.72600	0.3051532	0.53363	0.5257476	0.72600	-10.216	0.77613	D	.	.	0.567	0.74342	P	.;.;.	.;.;.	4.746463	0.76591	26.5	0.72162146122267756	0.09877	0.66456	0.33084	D	ALL	0.499638	0.53323	N	0.137075666989766	0.48200	3.03537	0.20308260555608	0.50019	3.19832	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.28	5.28	0.74118	4.573000	0.60606	11.244000	0.90520	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.120000	0.19168	0.081:0.0:0.919:0.0	11.955	0.52266	644	0.63734	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	680.43	33	chr6	70668040	.	G	A	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.975;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-0.234;SOR=0.626	GT:AD:DP:GQ:PL	0/1:62,39:101:99:692,0,1533	9	0	1	0
chr6	78955640	78955640	C	A	exonic	PHIP	.	nonsynonymous SNV	PHIP:NM_017934:exon33:c.G3825T:p.M1275I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00992830778939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.062e-06	5.719e-06	0	2.052e-06	1.505e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.505e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.561	0.09083	T	0.008	0.14655	B	0.01	0.14941	B	0.000002	0.62929	D	0.061355	0.999997	0.58761	D	1.445	0.36358	L	1.08	0.39401	T	-0.58	0.17417	N	0.426	0.46555	-1.0898	0.05565	T	0.039	0.16634	T	9	0.22626242	0.39477	T	0.009928	0.25856	T	0.102	0.29158	0.235	0.16457	0.70819069214	0.70564	0.5213145317216192	0.52054	0.724763160997	0.62413	0.714088201523	0.69186	T	0.068	0.33321	T	0.0344155	0.56310	T	-0.188341	0.55746	T	0.800812005996704	0.46408	D	0.813119	0.46553	T	0.123438925	0.28984	0.12247751	0.29542	0.123438925	0.28984	0.12247751	0.29542	-3.483	0.16195	T	.	.	0.735	0.74430	P	.	.	3.602508	0.50895	23.0	0.96877988047832342	0.31446	0.98243	0.80867	D	AEFGBI	0.553945	0.56499	D	-0.021017022561338	0.40905	2.437347	0.18021869730585	0.48762	3.088003	0.999689537206565	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	4.460000	0.59844	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9191:0.0:0.0809	11.752	0.51123	909	0.22467	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	457.43	33	chr6	78955640	.	C	A	457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=343;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.391;SOR=0.512	GT:AD:DP:GQ:PL	0/1:20,22:42:99:469,0,447	9	0	1	0
chr6	79214995	79214995	C	T	exonic	HMGN3	.	nonsynonymous SNV	HMGN3:NM_001201362:exon2:c.G43A:p.G15R,HMGN3:NM_001201363:exon2:c.G43A:p.G15R,HMGN3:NM_001318884:exon2:c.G43A:p.G15R,HMGN3:NM_001318886:exon2:c.G43A:p.G15R,HMGN3:NM_001318887:exon2:c.G43A:p.G15R,HMGN3:NM_001318888:exon2:c.G43A:p.G15R,HMGN3:NM_004242:exon2:c.G43A:p.G15R,HMGN3:NM_138730:exon2:c.G43A:p.G15R	.	.	.	.	.	.	.	.	.	.	.	2431920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.0163661386091	.	.	4.156e-05	0	0	0	0	4.536e-05	0	0.0001	3.23e-05	5	154602	rs753089354	5.1e-05	5.683e-05	5.539e-05	4.66e-05	0.0069	4.11e-05	3.77e-05	0.0051	0.0045	0	2.773e-05	0	0	0	0.0069	1.812e-05	5.252e-05	0.0001	5.91e-05	5.906e-05	2.57e-05	9.401e-05	0.0006	3.076e-05	2.209e-05	0.0002	9e-05	2.407e-05	0	0	0	0	0	0.0034	5.88e-05	0	0.0006	0.019	0.72154	D	0.447	0.50226	T	1.0	0.90584	D	0.999	0.92359	D	0.000473	0.44119	D	0.146309	0.708832	0.33497	D	.	.	.	.	.	.	0.41	0.23156	N	0.23	0.33904	-0.4778	0.69447	T	0.295	0.66659	T	7	0.19896257	0.35887	T	0.016366	0.37594	T	0.199	0.48268	0.349	0.34598	0.522344865107	0.51879	0.19502163057696256	0.19420	1.49107376783	0.86883	0.624811172485	0.56410	T	0.13152	0.46106	T	-0.180262	0.23697	T	-0.237031	0.51089	T	0.462768516797936	0.31266	T	0.954005	0.82752	D	0.19342649	0.41052	0.13581632	0.32509	0.19342649	0.41052	0.13581632	0.32508	-8.494	0.64390	D	.	.	0.355	0.58505	A	.;.;.	.;.;.	5.516637	0.91739	32	0.99779968930028207	0.86693	0.88482	0.48430	D	AEFBI	0.545604	0.56004	D	0.537321203108101	0.69314	5.339307	0.511146975811371	0.68738	5.261829	0.996137400782838	0.34546	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	4.016000	0.56871	7.617000	0.62147	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.913	0.63385	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	234.43	34	chr6	79214995	.	C	T	234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.402;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=0.377;SOR=0.711	GT:AD:DP:GQ:PL	0/1:41,14:55:99:246,0,993	9	0	1	0
chr6	79916753	79916753	A	G	exonic	ELOVL4	.	nonsynonymous SNV	ELOVL4:NM_022726:exon6:c.T800C:p.I267T	Ichthyosis, spastic quadriplegia, and mental retardation, Autosomal recessive;Stargardt disease 3, Autosomal dominant	0	1487	32	3	0	38	0.0126162	.	.	.	140907	Stargardt_disease_3|Retinal_dystrophy|not_provided|not_specified	MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0055	0.00579073	0.0071	0.0011	0.0022	0	0.0228	0.0068	0.0066	0.0129	0.0067464	1043	154602	rs148594713	0.0082	0.0082	0.0081	0.0082	0.0141	0.0080	0.0080	0.0135	0.0132	0.0010	0.0025	0.0018	0	0.0196	0.0101	0.0080	0.0093	0.0141	0.0066	0.0066	0.0058	0.0074	0.0124	0.0062	0.0061	0.0099	0.0090	0.0013	0	0.0073	0.0012	0	0.0219	0.0136	0.0077	0.0052	0.0124	0.343	0.12592	T	0.319	0.19188	T	0.0	0.02946	B	0.005	0.11217	B	0.044023	0.23680	N	0.517989	0.999158	0.21565	N	1.365	0.34158	L	1.83	0.24841	T	-0.94	0.25118	N	0.064	0.03613	-0.9856	0.33687	T	0.015	0.06186	T	10	0.0051600635	0.00112	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.6968851545026064	0.69629	0.474802337914	0.46665	0.357197225094	0.18978	T	0.102273	0.40983	T	-0.595285	0.00156	T	-0.616185	0.11487	T	0.013321040287571	0.00239	T	0.724428	0.33821	T	0.057682335	0.11511	0.045149926	0.06010	0.06052741	0.12429	0.05890448	0.10963	-7.566	0.58073	D	0.19057206633329046	0.24972	0.24	0.47404	B	.	.	2.009121	0.25529	16.79	0.81669222591450186	0.13801	0.85382	0.44509	D	AEFI	0.156425	0.28177	N	-0.457078194631508	0.23501	1.262472	-0.36000022960442	0.26202	1.445678	0.00141027761161683	0.08512	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.95	2.12	0.26372	3.218000	0.50894	2.048000	0.30332	0.756000	0.94297	1.000000	0.71638	0.002000	0.18203	0.992000	0.67800	0.4745:0.0:0.1967:0.3288	3.571	0.07468	692	0.58729	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.030303	0.05	1357.43	35	chr6	79916753	.	A	G	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.205;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.622;SOR=0.762	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1369,0,1029	9	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	2742.67	63	chr6	80007990	.	G	C	2742.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.702;DP=385;ExcessHet=1.5895;FS=272.212;InbreedingCoeff=-0.4966;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.21;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,23:48:99:0|1:80007990_G_C:724,0,948:80007990	2	0	3	5
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	TCCCC	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,23:46:99:0|1:80007990_G_C:730,0,878:80007990	2	0	2	6
chr6	87255764	87255764	A	G	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.A2135G:p.K712R,ZNF292:NM_001351444:exon9:c.A1715G:p.K572R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0169757680738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.112	0.37589	T	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.085392	0.987339	0.40574	D	1.555	0.39373	L	0.77	0.49642	T	-1.56	0.37759	N	0.204	0.29774	-0.7820	0.56189	T	0.176	0.52068	T	10	0.19593701	0.35465	T	0.016976	0.38486	T	0.143	0.38195	0.42	0.46200	0.268702046668	0.26493	0.38918279183651977	0.38833	.	.	0.7731128335	0.77891	T	0.145039	0.48196	T	-0.0873648	0.38510	T	-0.36327	0.37672	T	0.856568217277527	0.50741	D	0.908009	0.67517	D	0.26205432	0.49266	0.2707598	0.52970	0.26205432	0.49266	0.2707598	0.52969	-4.808	0.34685	T	0.5214958039403004	0.59369	0.118	0.23952	B	.;.	.;.	4.280439	0.65203	24.8	0.99791346962526883	0.87661	0.88375	0.48274	D	AEFDBCI	0.400222	0.47519	N	0.626997210454761	0.74887	6.209858	0.652838559467563	0.78823	6.954297	0.417376288077897	0.20263	0.719381	0.83141	0	0.723133	0.82719	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	4.332000	0.59063	9.425000	0.80773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.445	0.83760	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	730.43	35	chr6	87255764	.	A	G	730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.972;DP=411;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.18;SOR=0.877	GT:AD:DP:GQ:PL	0/1:31,28:59:99:742,0,873	9	0	1	0
chr6	87260932	87260932	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I	.	427	1012	79	4	0	87	0.0412127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00499201	0.0100	0.0022	0.0049	0.0001	0.0017	0.0104	0.0121	0.0245	0.0084087	1300	154602	rs61744959	0.0096	0.0096	0.0091	0.0100	0.0230	0.0094	0.0094	0.0222	0.0218	0.0019	0.0041	0.0017	0	0.0015	0.0193	0.0099	0.0093	0.0230	0.0063	0.0063	0.0065	0.0061	0.0201	0.0060	0.0058	0.0169	0.0157	0.0016	0	0.0041	0.0012	0	0.0009	0.0068	0.0103	0.0057	0.0201	0.406	0.10278	T	0.396	0.15206	T	0.006	0.13644	B	0.009	0.14300	B	0.461370	0.12387	N	0.768728	0.999999	0.08975	N	1.735	0.44892	L	3.34	0.06063	T	-0.22	0.10480	N	0.053	0.02462	-0.9008	0.47910	T	0.004	0.01400	T	10	0.0027675629	0.00043	T	.	.	.	0.033	0.08068	.	.	0.216943180021	0.21308	0.05458345058221593	0.05400	.	.	0.256128549576	0.04441	T	0.031842	0.22223	T	-0.710375	0.00032	T	-0.775596	0.02589	T	0.000202353479089497	0.00001	T	0.667533	0.27667	T	0.03097521	0.02854	0.028164731	0.01028	0.03119373	0.02914	0.028164731	0.01028	-3.79	0.20655	T	0.4322768024131565	0.51920	0.072	0.04198	B	.;.	.;.	0.563888	0.09324	6.105	0.75564123995781296	0.11124	0.51125	0.28823	D	AEFBCI	.	.	.	-0.591901078762334	0.19188	1.002366	-0.479853640002633	0.22708	1.234817	0.969723715095948	0.29151	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.52	2.71	0.31092	0.799000	0.26688	0.955000	0.22950	0.618000	0.50648	0.128000	0.23311	0.915000	0.28207	0.944000	0.48669	0.0713:0.1142:0.6677:0.1467	6.622	0.22002	824	0.40336	.;.	.	.	.	.	rs61744959	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	0.018630	0.000000	0.017663	0.011696	0.000000	0.000000	0.030488	0.030303	0.1	2317.14	39	chr6	87260932	.	G	A	2317.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.892;DP=494;ExcessHet=0.2348;FS=4.283;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.293;SOR=1.035	GT:AD:DP:GQ:PL	0/1:52,36:88:99:897,0,1293	8	0	2	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	619.04	57	chr6	87418396	.	G	C	619.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.755;DP=604;ExcessHet=1.5895;FS=224.048;InbreedingCoeff=-0.2907;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.865;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,34:91:99:.:.:197,0,525:.	5	0	4	1
chr6	89265642	89265642	C	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon7:c.G860A:p.R287H	.	419	1097	5	1	0	7	0.00318037	.	.	.	2253864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0156123209126	0.0004	0.000399361	0.0005	9.61e-05	0.0008	0	0	0.0006	0.0011	0.0005	0.0005045	78	154602	rs74529557	0.0004	0.0004	0.0004	0.0005	0.0080	0.0004	0.0004	0.0061	0.0055	0.0003	0.0010	3.827e-05	2.52e-05	0	0.0080	0.0004	0.0009	0.0003	0.0005	0.0005	0.0005	0.0004	0.0011	0.0004	0.0003	0.0007	0.0006	9.624e-05	0	0.0011	0	0	0	0.0102	0.0006	0.0014	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	0.000007	0.62929	N	0.148471	0.999713	0.48481	D	1.255	0.31814	L	-2.09	0.86077	D	.	.	.	0.36	0.40164	-0.9687	0.37468	T	0.114	0.40605	T	8	0.047377884	0.04049	T	0.015612	0.36438	T	0.099	0.28413	.	.	0.863850240467	0.86253	0.6242270559348848	0.62355	0.194380720479	0.21778	0.248048335314	0.03565	T	0.119236	0.44062	T	-0.389919	0.02694	T	-0.400344	0.33344	T	0.0386358872056007	0.03444	T	0.80472	0.45238	T	0.07583913	0.17113	0.14301969	0.34005	0.07583913	0.17112	0.14301969	0.34004	-8.951	0.67381	D	.	.	0.235	0.46825	B	.	.	2.445339	0.31476	18.75	0.98550227747727059	0.42833	0.87704	0.47333	D	AEFBI	0.356870	0.44810	N	-0.0748548186322868	0.38498	2.255715	0.0599880693048118	0.42555	2.576128	0.0319895884635855	0.14031	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.83	3.59	0.40253	2.058000	0.41001	0.136000	0.15109	-0.171000	0.11205	1.000000	0.71638	0.964000	0.29435	0.985000	0.61073	0.0:0.7953:0.0:0.2047	10.585	0.44467	905	0.23532	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.025253	0.005435	0.002924	0.000000	0.017241	0.000000	0.000000	0.05	2707.43	52	chr6	89265642	.	C	T	2707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=581;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.318;SOR=0.637	GT:AD:DP:GQ:PL	0/1:84,115:199:99:2719,0,1872	9	0	1	0
chr6	93410600	93410600	C	T	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon3:c.G733A:p.A245T,EPHA7:NM_001288630:exon3:c.G733A:p.A245T,EPHA7:NM_001376465:exon3:c.G733A:p.A245T,EPHA7:NM_001376466:exon3:c.G733A:p.A245T,EPHA7:NM_001376467:exon3:c.G733A:p.A245T,EPHA7:NM_001376468:exon3:c.G733A:p.A245T,EPHA7:NM_001376469:exon3:c.G733A:p.A245T,EPHA7:NM_001376470:exon3:c.G505A:p.A169T,EPHA7:NM_001376471:exon3:c.G505A:p.A169T,EPHA7:NM_004440:exon3:c.G733A:p.A245T	.	421	1081	20	0	0	20	0.0091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0116223800209	0.0009	0.00119808	0.0016	0.0008	0.0014	0	0	0.0017	0	0.0033	0.0014683	227	154602	rs41273629	0.0011	0.0011	0.0011	0.0012	0.0068	0.0011	0.0011	0.0051	0.0045	0.0002	0.0013	0.0022	0.0001	0	0.0068	0.0010	0.0016	0.0034	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0013	0.0012	0.0003	0	0.0018	0.0026	0.0004	0	0	0.0016	0.0014	0.0023	0.538	0.08787	T	1.0	0.07244	T	0.003	0.17573	B	0.002	0.19346	B	0.000000	0.84330	D	0.053473	0.924721	0.27208	N	0.36	0.11994	N	-0.59	0.71543	T	0.65	0.03521	N	0.128	0.12198	-1.0578	0.12311	T	0.073	0.29483	T	10	0.0044355392	0.00091	T	0.011622	0.29427	T	0.043	0.11576	.	.	0.204265027416	0.20035	0.4742936788225149	0.47348	0.382226825231	0.39557	0.694450557232	0.66345	T	0.028586	0.20673	T	-0.490374	0.00647	T	-0.479901	0.24457	T	0.00553933447773177	0.00060	T	0.427757	0.27667	T	0.14621846	0.33482	0.17927508	0.40650	0.14621846	0.33482	0.17927508	0.40650	-4.173	0.29638	T	.	.	0.066	0.02228	B	.;.	.;.	3.397506	0.47066	22.4	0.92953703828481027	0.22526	0.87652	0.47263	D	AEFBI	0.123608	0.23929	N	-0.42491439724956	0.24598	1.32935	-0.190630508207039	0.31880	1.808361	0.0229919285950948	0.13474	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.46	4.3	0.50540	3.356000	0.51987	5.395000	0.48494	-0.045000	0.17359	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.865:0.135:0.0:0.0	13.048	0.58346	944	0.12746	.;.	.	.	.	.	.	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.05	1691.43	33	chr6	93410600	.	C	T	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=577;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.334;SOR=0.899	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1703,0,1815	9	0	1	0
chr6	106552204	106552204	G	C	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon13:c.G4236C:p.R1412S,CRYBG1:NM_001371242:exon15:c.G5460C:p.R1820S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0146556277939	.	.	9.861e-05	0	0	0	0	1.852e-05	0	0.0006	6.47e-05	10	154602	rs768985297	3.512e-05	3.559e-05	1.819e-05	5.219e-05	0.0006	2.701e-05	2.438e-05	0.0005	0.0004	0	0	0	0	0	0.0004	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.102	0.38450	T	0.259	0.31472	B	0.053	0.25678	B	0.247217	0.15586	N	0.700738	0.862062	0.35406	D	.	.	.	-0.56	0.72889	T	-2.32	0.64246	N	0.318	0.38541	-1.0744	0.08472	T	0.069	0.28280	T	10	0.06874469	0.09766	T	0.014656	0.34921	T	0.166	0.42578	0.358	0.36060	0.516884031612	0.51331	0.49623780846876203	0.49544	0.0972937747423	0.10992	0.407148391008	0.26063	T	0.014665	0.18504	T	-0.248996	0.14221	T	-0.24827	0.49986	T	0.0736326823794987	0.09152	T	0.787921	0.42712	T	0.16072899	0.36033	0.09640647	0.22904	0.16072899	0.36033	0.09640647	0.22903	-6.567	0.50800	T	.	.	0.239	0.49038	B	.;.;.	.;.;.	3.016522	0.40355	21.2	0.48572518399038517	0.04065	0.91355	0.53366	D	AEFBI	0.285050	0.39777	N	-0.445077739965204	0.23907	1.287173	-0.268774438722516	0.29132	1.629792	0.995018460045077	0.33909	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	2.76	0.31527	2.818000	0.47741	1.933000	0.29783	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1595:0.2979:0.4023:0.1403	2.415	0.04164	748	0.52143	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	434.43	47	chr6	106552204	.	G	C	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=337;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.191;SOR=0.648	GT:AD:DP:GQ:PL	0/1:16,18:34:99:446,0,342	9	0	1	0
chr6	110393281	110393281	G	A	exonic	DDO	.	nonsynonymous SNV	DDO:NM_001368171:exon4:c.C181T:p.P61S,DDO:NM_001368173:exon4:c.C343T:p.P115S,DDO:NM_004032:exon4:c.C343T:p.P115S,DDO:NM_001368172:exon5:c.C520T:p.P174S,DDO:NM_001368174:exon5:c.C166T:p.P56S,DDO:NM_001368175:exon5:c.C166T:p.P56S,DDO:NM_001372108:exon5:c.C520T:p.P174S,DDO:NM_001368170:exon6:c.C358T:p.P120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00580773282757	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749465890	1.369e-06	1.368e-06	1.361e-06	1.376e-06	2.521e-05	2.3e-07	9e-08	.	.	0	0	0	2.521e-05	0	0	0	0	1.159e-05	1.314e-05	1.314e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.695	0.06106	T	0.794	0.04155	T	0.024	0.32716	B	0.02	0.21540	B	0.053429	0.22809	N	0.501675	1	0.08975	N	.	.	.	1.01	0.41058	T	-0.67	0.19297	N	0.089	0.10198	-1.0534	0.13466	T	0.020	0.08453	T	10	0.051725358	0.05099	T	0.005808	0.15101	T	0.065	0.18881	0.323	0.30387	0.322786055943	0.31880	0.5481034490024028	0.54736	0.0417887643183	0.04490	0.254505872726	0.04257	T	.	.	.	-0.374724	0.03362	T	-0.55034	0.17294	T	0.103180615949623	0.12703	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	-2.162	0.03860	T	.	.	0.098	0.16143	B	.;.	.;.	0.933832	0.13095	9.595	0.16824774836651707	0.00466	0.21102	0.21282	N	AEFBI	0.248914	0.36923	N	-0.706300473933109	0.15845	0.8021195	-0.628528936954826	0.18762	1.003677	0.344924687628058	0.19622	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.95	5.06	0.67838	0.678000	0.24956	3.623000	0.39291	0.676000	0.76740	0.000000	0.06391	0.999000	0.35428	0.528000	0.29660	0.0:0.3375:0.5299:0.1327	8.98	0.35121	578	0.69858	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1010.43	34	chr6	110393281	.	G	A	1010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=404;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.498;SOR=0.81	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1022,0,1069	9	0	1	0
chr6	123352541	123352541	T	C	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon21:c.A1370G:p.Q457R,TRDN:NM_006073:exon21:c.A1367G:p.Q456R	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	6	1506	10	0	0	10	0.00330907	0.8442	0.57	.	229398	Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_1|not_specified|not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia_5	MedGen:CN230736|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0117083682409	0.0024	0.000399361	0.0012	0.0010	8.908e-05	0	0.0003	0.0017	0.0022	0.0012	0.0013519	209	154602	rs200243235	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0001	0	0	0.0003	0.0005	0.0025	0.0018	0.0016	0.0013	0.0013	0.0014	0.0012	0.0024	0.0011	0.0011	0.0021	0.0020	0.0006	0	6.564e-05	0	0	0	0	0.0024	0	0.0014	0.0	0.91255	D	0.196	0.27943	T	0.999	0.77913	D	0.915	0.65091	D	0.000193	0.48115	D	0.000000	0.936174	0.26924	N	0.805	0.20218	L	2.29	0.17113	T	-0.82	0.22508	N	0.322	0.36254	-1.0853	0.06353	T	0.032	0.13767	T	10	0.013671964	0.00289	T	0.011708	0.29605	T	0.054	0.15330	.	.	0.101711395817	0.09552	0.0055751895314358705	0.00527	.	.	0.497182607651	0.38436	T	0.142311	0.47783	T	-0.452048	0.01099	T	-0.421983	0.30847	T	0.057154620617361	0.06713	T	0.451655	0.12799	T	0.3994474	0.60694	0.45604387	0.68380	0.3994474	0.60694	0.45604387	0.68381	-4.292	0.28065	T	0.3408897636466289	0.43862	0.132	0.28521	B	.	.	4.703091	0.75479	26.3	0.99842116485199861	0.92229	0.84673	0.43758	D	AEFGHCIJ	0.599758	0.59265	D	0.369983115890946	0.59801	4.162756	0.417521236726718	0.62654	4.484724	0.999520267661672	0.40175	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.42	0.52775	2.961000	0.48861	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1631:0.8369	10.434	0.43612	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	35	chr6	123352541	.	T	C	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.783;DP=435;ExcessHet=0;FS=2.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.42;SOR=0.484	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1221,0,1618	9	0	1	0
chr6	129267185	129267185	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon16:c.C2288T:p.A763V,LAMA2:NM_001079823:exon16:c.C2288T:p.A763V	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	455207	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|LAMA2-related_muscular_dystrophy|not_provided	MedGen:C1842898|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.383	0.0384690841205	.	0.000399361	0.0002	0	0	0.0012	0	8.992e-05	0	0.0004	0.0001552	24	154602	rs141521127	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0028	0.0026	0	0	0.0018	0.0032	0	0.0003	4.86e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0021	8.167e-05	6.723e-05	0.0012	0.0009	0	0	6.543e-05	0.0009	0.0021	0	0	2.941e-05	0	0.0004	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.889	0.63100	P	0.000011	0.62929	D	0.064550	0.999996	0.58761	D	2.31	0.66127	M	0.04	0.62051	T	-3.14	0.64019	D	0.622	0.64989	-0.2539	0.76254	T	0.385	0.74091	T	10	0.09862691	0.17845	T	0.038469	0.58239	D	0.383	0.70029	.	.	0.8349895251	0.83341	0.568770039781489	0.56805	0.433853106296	0.43527	0.543026685715	0.44874	T	0.058498	0.62120	T	-0.139031	0.30045	T	-0.0229262	0.68836	D	0.242683126496826	0.22542	T	0.877312	0.60617	D	0.42491737	0.62417	0.40663326	0.65031	0.42491737	0.62418	0.40663326	0.65031	-11.305	0.81304	D	0.2467909815087228	0.33422	0.225	0.45714	B	.;.;.	.;.;.	4.709538	0.75645	26.4	0.99935615425962498	0.99579	0.91224	0.53104	D	AEFDBHCIJ	0.641705	0.61894	D	0.789214879695692	0.85425	8.572434	0.776923975787765	0.88149	9.474432	0.999999993010954	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	5.241000	0.65206	4.922000	0.46051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	19.953	0.97209	828	0.39726	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	.	.	.	.	.	.	.	.	0.05	1058.43	36	chr6	129267185	.	C	T	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.319;DP=405;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.094;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1070,0,1088	9	0	1	0
chr6	132324056	132324056	C	T	exonic	MOXD1	.	nonsynonymous SNV	MOXD1:NM_015529:exon7:c.G988A:p.D330N	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0065	0.00199681	0.0077	0.0013	0.0032	0.0001	0.0139	0.0110	0.0067	0.0030	0.0077748	1202	154602	rs35248832	0.0089	0.0089	0.0090	0.0089	0.0171	0.0088	0.0087	0.0144	0.0134	0.0012	0.0031	0.0173	5.04e-05	0.0139	0.0171	0.0098	0.0071	0.0027	0.0070	0.0070	0.0073	0.0067	0.0097	0.0066	0.0065	0.0091	0.0088	0.0017	0.0493	0.0034	0.0156	0.0002	0.0138	0.0272	0.0097	0.0066	0.0025	0.104	0.32296	T	0.636	0.07127	T	0.0	0.07471	B	0.002	0.08700	B	0.245554	0.15619	N	0.653662	1	0.08975	N	0.865	0.21413	L	1.38	0.34050	T	-1.13	0.29114	N	0.294	0.33250	-1.0322	0.19745	T	0.022	0.09513	T	10	0.0050245225	0.00108	T	.	.	.	0.051	0.14325	.	.	0.148003135375	0.14442	0.4082048456799976	0.40736	0.0284185129673	0.02920	0.449232816696	0.31839	T	0.131283	0.46067	T	-0.655778	0.00067	T	-0.6985	0.05908	T	0.00325797391021722	0.00034	T	0.812719	0.46458	T	0.051059015	0.09321	0.03765972	0.03465	0.051059015	0.09320	0.03765972	0.03465	-3.251	0.14338	T	.	.	0.068	0.02765	B	.;.	.;.	2.245368	0.28674	17.88	0.98060817535635492	0.37944	0.38948	0.26103	N	AEFBI	0.114995	0.22628	N	-0.520750415464647	0.21411	1.136018	-0.404473039873985	0.24865	1.364079	0.210563440174863	0.18234	0.638212	0.43195	0	0.60822	0.50512	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.75	3.96	0.45097	1.254000	0.32500	2.628000	0.33675	0.599000	0.40250	0.735000	0.28974	0.992000	0.31684	0.914000	0.44937	0.0:0.7361:0.1264:0.1376	8.331	0.31345	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.020202	0.004076	0.023392	0.000000	0.043103	0.003049	0.000000	0.05	939.43	33	chr6	132324056	.	C	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=385;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.608;SOR=0.735	GT:AD:DP:GQ:PL	0/1:31,42:73:99:951,0,740	9	0	1	0
chr6	132328019	132328019	C	T	exonic	MOXD1	.	nonsynonymous SNV	MOXD1:NM_015529:exon6:c.G940A:p.E314K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0051219262319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468276907	3.429e-06	4.104e-06	1.365e-06	5.513e-06	2.327e-05	1.01e-06	7.3e-07	3.86e-06	1.45e-06	0	0	0	0	0	0	2.705e-06	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01958	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.207910	0.16437	N	0.591600	1	0.08975	N	-1.125	0.00941	N	1.62	0.28189	T	0.11	0.05706	N	0.169	0.18239	-0.9218	0.45307	T	0.005	0.01833	T	10	0.035981655	0.01873	T	0.005122	0.13001	T	0.010	0.01040	0.455	0.51938	0.0716867268079	0.06686	0.3438528016329582	0.34299	0.0303853612218	0.03137	0.226025626063	0.01687	T	0.042957	0.26348	T	-0.447586	0.01167	T	-0.780073	0.02451	T	0.00840913872507467	0.00102	T	0.751425	0.37327	T	0.029086871	0.02347	0.039500028	0.04056	0.029086871	0.02346	0.039500028	0.04056	-3.12	0.11644	T	.	.	0.050	0.00154	B	.;.	.;.	0.295511	0.06715	3.224	0.20512353419482404	0.00741	0.01796	0.05610	N	AEFBI	0.037838	0.05266	N	-1.43949862505002	0.02300	0.1014312	-1.35343527504108	0.03765	0.1763219	0.0178010249579584	0.12990	0.638212	0.43195	0	0.659912	0.62753	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.38	-0.922	0.09936	0.190000	0.16864	0.940000	0.22845	-0.193000	0.09282	0.101000	0.22814	0.989000	0.31174	0.140000	0.19946	0.0:0.3135:0.1961:0.4904	6.905	0.23483	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	608.43	35	chr6	132328019	.	C	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.966;SOR=0.657	GT:AD:DP:GQ:PL	0/1:36,27:63:99:620,0,905	9	0	1	0
chr6	132553382	132553382	T	G	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.T690G:p.I230M	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00399155185411	.	.	8.28e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs770118880	7.183e-05	7.182e-05	7.079e-05	7.288e-05	0.0002	6.047e-05	5.595e-05	6.959e-05	6.455e-05	0	0	0	2.521e-05	0	0.0002	8.363e-05	1.656e-05	0.0001	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.02	0.58613	D	0.669	0.41149	P	0.633	0.51840	P	0.000482	0.43931	D	0.087644	1	0.08975	N	1.655	0.42436	L	1.14	0.38397	T	-2.05	0.47008	N	0.227	0.25499	-1.0589	0.12032	T	0.047	0.19958	T	10	0.13998279	0.26611	T	0.003992	0.09462	T	0.146	0.38789	0.56	0.67958	0.268660756437	0.26461	0.10717012870932109	0.10647	0.0839010262368	0.09463	0.420461237431	0.27900	T	0.018438	0.14866	T	-0.327388	0.06311	T	-0.611192	0.11889	T	0.183806338927193	0.19472	T	0.757524	0.38090	T	0.14800546	0.33809	0.093583494	0.22112	0.14800546	0.33808	0.093583494	0.22111	-7.4	0.56905	T	.	.	0.087	0.11172	B	.	.	0.126582	0.05232	1.736	0.80764298918331368	0.13358	0.03238	0.08256	N	AEFBI	0.044228	0.07088	N	-1.35168725098943	0.03108	0.1382859	-1.60687904749513	0.01614	0.07322769	0.873300710873721	0.25463	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.72	-7.91	0.01031	-2.187000	0.01335	-14.411000	0.00405	-3.102000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3582:0.1466:0.3651:0.1302	2.370	0.04064	816	0.41767	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	841.43	33	chr6	132553382	.	T	G	841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=376;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.417;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,32:73:99:853,0,1154	9	0	1	0
chr6	134171072	134171072	C	T	exonic	SGK1	.	nonsynonymous SNV	SGK1:NM_001291995:exon9:c.G857A:p.G286D,SGK1:NM_001143677:exon10:c.G1073A:p.G358D,SGK1:NM_001143678:exon10:c.G1031A:p.G344D,SGK1:NM_005627:exon10:c.G989A:p.G330D,SGK1:NM_001143676:exon12:c.G1274A:p.G425D	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0444944609108	.	0.000199681	6.592e-05	0	8.64e-05	0	0	1.499e-05	0.0011	0.0003	5.82e-05	9	154602	rs552502455	3.626e-05	3.625e-05	1.497e-05	5.776e-05	0.0005	2.828e-05	2.565e-05	0.0003	0.0003	0	0	0	0	0	0	8.993e-06	6.623e-05	0.0005	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.026	0.64786	D	0.971	0.65571	D	0.788	0.63708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.825	0.20901	L	-0.85	0.74371	T	-4.56	0.78636	D	0.826	0.83371	-0.2067	0.77499	T	0.408	0.75734	T	10	0.7106863	0.73024	D	0.044494	0.61517	D	0.702	0.89284	0.566	0.68768	0.782791714654	0.78078	0.8354687892861793	0.83506	1.83023166883	0.92039	0.872366189957	0.92905	D	0.506982	0.82493	D	0.0885815	0.63029	D	0.225724	0.84460	D	0.45173321323263	0.30860	T	0.89921	0.64678	D	0.88661176	0.90219	0.8159419	0.89279	0.88661176	0.90220	0.8159419	0.89280	-12.798	0.89842	D	.	.	0.555	0.70767	A	.;.;.;.;.;.	.;.;.;.;.;.	5.117285	0.85582	28.6	0.99836444143805259	0.91714	0.98571	0.84224	D	AEFDBHCIJ	0.964448	0.98658	D	0.698379798962617	0.79527	7.096245	0.749189720127464	0.86097	8.781333	1.0	0.98316	0.719381	0.83141	0	0.670034	0.63936	0	0.723133	0.82415	0	0.638787	0.57140	0	.	.	5.77	5.77	0.91077	7.905000	0.86479	4.923000	0.46060	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.983	0.97336	826	0.39940	.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	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	0.05	1425.43	43	chr6	134171072	.	C	T	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.522;DP=437;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.927;SOR=0.64	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1437,0,1658	9	0	1	0
chr6	152310431	152310431	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon88:c.C16771T:p.R5591C,SYNE1:NM_182961:exon89:c.C16984T:p.R5662C	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1511	7	0	4	11	0.00231099	.	.	.	268711	not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Arthrogryposis_multiplex_congenita_3,_myogenic_type|SYNE1-related_disorder|Intellectual_disability|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|.|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|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.0747394446894	.	.	0.0007	0.0004	0.0003	0	0	0.0010	0	0.0006	0.0006339	98	154602	rs145899734	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	0.0003	0.0007	0.0005	0	0.0001	0.0036	0.0007	0.0008	0.0005	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0004	0.0007	0.0007	0.0001	0	0.0008	0	0	0	0	0.0009	0.0019	0.0004	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	0.000008	0.62929	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.34	0.34841	T	-4.02	0.75297	D	0.248	0.32701	-0.5699	0.66019	T	0.284	0.65596	T	10	0.11012933	0.20572	T	0.074739	0.72116	D	0.310	0.63162	.	.	0.507928266286	0.50432	0.3026325838704886	0.30176	0.632827426536	0.57198	0.371376037598	0.21030	T	0.71194	0.91790	D	-0.0795272	0.39793	T	0.0566404	0.74023	D	0.0476017507632833	0.05072	T	0.990501	0.97142	D	0.21561357	0.43998	0.19910575	0.43777	0.21561357	0.43998	0.19910575	0.43776	-8.753	0.66093	D	.	.	0.084	0.09772	B	.;.;.	.;.;.	4.081962	0.60724	24.3	0.9993263535315039	0.99439	0.97288	0.73812	D	AEFBI	0.738954	0.68367	D	0.692491788489018	0.79140	7.015314	0.639927948192023	0.77861	6.761905	0.999999920426181	0.74766	0.475973	0.10046	0	0.547309	0.14657	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.06	6.06	0.98340	4.963000	0.63403	8.572000	0.77610	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	20.621	0.99492	886	0.28090	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1537.43	36	chr6	152310431	.	G	A	1537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=465;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.27;SOR=0.606	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1549,0,1732	9	0	1	0
chr6	152387199	152387199	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon54:c.C8381T:p.T2794M,SYNE1:NM_182961:exon54:c.C8360T:p.T2787M	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	4	1517	1	0	0	1	0.000329489	.	.	.	266532	not_specified|SYNE1-related_disorder|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0196976552992	0.0006	0.000599042	0.0006	9.612e-05	0	0	0	0.0003	0	0.0030	0.0005304	82	154602	rs142676206	0.0005	0.0005	0.0004	0.0006	0.0026	0.0005	0.0005	0.0023	0.0022	0.0002	8.944e-05	0	0	7.488e-05	0.0007	0.0004	0.0005	0.0026	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	0.0001	0	0	0	0	0	0	0.0004	0	0.0029	0.004	0.68238	D	0.006	0.70582	D	0.861	0.47410	P	0.186	0.36104	B	0.673302	0.10322	N	0.844168	1	0.08975	N	1.39	0.34934	L	1.33	0.35031	T	-3.07	0.65171	D	0.154	0.18920	-1.0949	0.04766	T	0.038	0.16505	T	10	0.004671514	0.00098	T	0.019698	0.42129	T	0.054	0.15330	.	.	0.396044805602	0.39223	0.058306367123164525	0.05771	0.218494503368	0.24388	0.274333715439	0.06714	T	0.526751	0.83549	D	-0.554033	0.00276	T	-0.573533	0.15127	T	0.0736786626600094	0.09159	T	0.89551	0.65583	D	0.050842647	0.09248	0.10352412	0.24841	0.06368297	0.13434	0.104431875	0.25081	-6.652	0.51448	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	0.973545	0.13505	10.03	0.48836804643797771	0.04108	0.51148	0.28828	D	AEFI	0.319170	0.42265	N	-0.256684570780881	0.30837	1.723282	-0.327549145300613	0.27212	1.508418	0.736961653415461	0.23147	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.42	0.38259	3.237000	0.51043	0.953000	0.22937	0.676000	0.76740	0.334000	0.25623	0.000000	0.08366	0.063000	0.16184	0.0752:0.1244:0.8004:0.0	12.107	0.53117	854	0.34840	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1255.43	44	chr6	152387199	.	G	A	1255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=495;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.14;SOR=0.947	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1267,0,2074	9	0	1	0
chr6	166324574	166324574	C	G	exonic	SFT2D1	.	nonsynonymous SNV	SFT2D1:NM_145169:exon6:c.G373C:p.V125L	.	433	1082	7	0	0	7	0.00322432	.	.	.	2342798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00295808346105	.	0.000399361	0.0003	0	8.642e-05	0	0	0.0003	0	0.0011	0.0003234	50	154602	rs201368298	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	0	0.0002	0	0	7.49e-05	0.0024	0.0002	0.0005	0.0008	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.405e-05	0	0.0004	0	0.0004	0	0.0102	0.0003	0.0009	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.014781	0.28435	N	0.327095	0.999953	0.19072	N	-1.085	0.01025	N	0.34	0.58176	T	1.23	0.01037	N	0.356	0.39760	-0.9801	0.34979	T	0.006	0.02093	T	10	0.009871125	0.00221	T	0.002958	0.06309	T	0.135	0.36572	0.492	0.57890	0.139678290688	0.13603	0.4993991559953314	0.49860	0.152145718627	0.17166	0.382497042418	0.22611	T	0.007865	0.07247	T	-0.506802	0.00523	T	-0.568239	0.15611	T	0.00590209279276971	0.00065	T	0.805019	0.45286	T	0.018547177	0.00377	0.030315278	0.01473	0.018547177	0.00376	0.030315278	0.01472	-0.111	0.00390	T	.	.	0.054	0.00321	B	.	.	-1.689793	0.00199	0.003	0.13993490628087332	0.00294	0.02588	0.07146	N	AEFBI	0.032589	0.03708	N	-1.97229769805181	0.00242	0.01039188	-1.91756206770573	0.00452	0.01999473	0.999999984539548	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.08	-10.2	0.00305	-1.207000	0.03118	-3.915000	0.02455	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.248000	0.23210	0.125:0.48:0.213:0.1819	4.405	0.10833	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	642.43	38	chr6	166324574	.	C	G	642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.809;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=1.37;SOR=0.766	GT:AD:DP:GQ:PL	0/1:63,35:98:99:654,0,1625	9	0	1	0
chr6	169636488	169636488	G	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon14:c.C1313A:p.S438Y,WDR27:NM_001202550:exon16:c.C1505A:p.S502Y,WDR27:NM_182552:exon19:c.C1886A:p.S629Y	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	.	0.00139776	0.0018	0	8.654e-05	0	0	0	0.0011	0.0132	0.0014942	231	154602	rs368366196	0.0008	0.0009	0.0005	0.0012	0.0137	0.0008	0.0008	0.0131	0.0128	5.998e-05	0	0	2.524e-05	0	0.0005	1.261e-05	0.0008	0.0137	0.0004	0.0004	0.0001	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	0	0	0	0	0	0	0	0.0122	0.162	0.31235	T	0.029	0.54541	D	0.969	0.56768	D	0.742	0.55764	P	0.910468	0.08556	N	0.957561	1	0.08975	N	.	.	.	4.92	0.01404	T	-2.18	0.49187	N	0.38	0.42149	-1.0778	0.07781	T	0.024	0.10148	T	10	0.0055630505	0.00123	T	.	.	.	0.074	0.21613	0.438	0.49157	0.0920862733494	0.08535	0.22242305592860523	0.22157	0.155788624017	0.17585	0.318107306957	0.13134	T	.	.	.	-0.548297	0.00299	T	-0.54869	0.17451	T	0.0362154092553473	0.03018	T	0.738226	0.35599	T	.	.	.	.	.	.	.	.	-10.733	0.80285	D	.	.	0.149	0.32851	B	.;.	.;.	2.558865	0.33135	19.25	0.88509531089104054	0.18033	0.04201	0.09709	N	AEFGBI	0.096747	0.19526	N	-0.371706082549989	0.26482	1.445621	-0.442100829068884	0.23773	1.298249	0.0829988894724713	0.15915	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	4.98	4.09	0.47038	1.796000	0.38428	5.810000	0.50000	0.589000	0.31548	0.014000	0.18986	0.988000	0.31051	0.472000	0.28386	0.0:0.1931:0.671:0.1359	9.205	0.36444	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	394.43	36	chr6	169636488	.	G	T	394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-1.957;SOR=0.814	GT:AD:DP:GQ:PL	0/1:41,17:58:99:406,0,1081	9	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	14892.7	98	chr6	170561964	.	G	*	14892.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,6:50:77:1|0:170561949_GCAA_G:3363,1724,1594:170561949	5	0	5	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,9:22:28:.:.:28,0,162:.	3	0	6	1
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.05	1290.43	35	chr7	1434651	.	T	G	1290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=443;ExcessHet=0;FS=5.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.235;SOR=1.001	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1302,0,1572	9	0	1	0
chr7	2220959	2220960	GG	-	exonic	MAD1L1	.	frameshift deletion	MAD1L1:NM_001304524:exon3:c.119_120del:p.S40Wfs*8	Lymphoma, somatic (3);Prostate cancer, somatic	8	1512	2	0	0	2	0.000660939	.	.	.	3546962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00678914	0.0015	0.0187	0.0009	0	0	0.0001	0.0012	6.421e-05	0.0002305	6	26028	rs113197514	0.0007	0.0007	0.0008	0.0006	0.0172	0.0006	0.0006	0.0160	0.0156	0.0172	0.0008	0	0	0	0.0019	0.0002	0.0015	6.965e-05	0.0042	0.0042	0.0044	0.0040	0.0142	0.0039	0.0038	0.0133	0.0129	0.0142	0	0.0013	0	0	0	0.0034	0.0002	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1735.39	36	chr7	2220958	.	CGG	C	1735.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=626;ExcessHet=0;FS=2.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.84;SOR=0.877	GT:AD:DP:GQ:PL	0/1:72,47:119:99:1747,0,2854	9	0	1	0
chr7	4800263	4800263	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon13:c.C2890T:p.R964C	.	432	1053	37	0	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.00199681	0.0034	0.0003	0.0011	0	0	0.0030	0.0158	0.0159	0.0015459	239	154602	rs200704658	0.0011	0.0012	0.0009	0.0013	0.0161	0.0011	0.0011	0.0134	0.0124	0.0005	0.0007	0.0070	2.722e-05	2.062e-05	0.0161	0.0007	0.0024	0.0052	0.0010	0.0010	0.0009	0.0010	0.0060	0.0008	0.0008	0.0043	0.0037	0.0003	0	0.0011	0.0049	0	9.409e-05	0.0102	0.0009	0.0028	0.0060	0.061	0.37118	T	0.193	0.28210	T	0.001	0.07471	B	0.0	0.01387	B	0.586789	0.11089	N	0.824423	0.999999	0.08975	N	-0.035	0.05024	N	1.08	0.39401	T	-1.42	0.34992	N	0.087	0.06454	-1.0439	0.16148	T	0.040	0.17404	T	10	0.004285276	0.00086	T	.	.	.	0.012	0.01476	.	.	0.159798565429	0.15598	0.3952173417645482	0.39436	0.0535115294369	0.05900	0.273139417171	0.06555	T	0.004797	0.04217	T	-0.602885	0.00140	T	-0.635611	0.09992	T	0.00588679547701272	0.00065	T	0.717528	0.33029	T	0.05840386	0.11744	0.042782318	0.05176	0.05840386	0.11744	0.042782318	0.05175	-5.97	0.46028	T	.	.	0.076	0.06024	B	.	.	1.010739	0.13896	10.46	0.94012572603210043	0.24115	0.05531	0.11423	N	AEFBCI	0.085644	0.17362	N	-1.33126222504903	0.03324	0.1482498	-1.33676038859087	0.03964	0.1860297	0.999248373678898	0.38873	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.02	-1.93	0.07180	0.072000	0.14482	-0.581000	0.08376	-0.712000	0.03928	0.410000	0.26249	0.000000	0.08366	0.112000	0.18829	0.3372:0.2701:0.3927:0.0	5.244	0.14806	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011819	0.000000	0.019126	0.005917	0.000000	0.008621	0.009494	0.019231	0.05	778.43	35	chr7	4800263	.	G	A	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=388;ExcessHet=0;FS=3.468;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.818;SOR=1.197	GT:AD:DP:GQ:PL	0/1:31,32:63:99:790,0,762	9	0	1	0
chr7	6409889	6409889	G	A	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon13:c.C1580T:p.A527V,DAGLB:NM_139179:exon15:c.C1967T:p.A656V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0125400066305	.	.	1.658e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757205077	9.578e-06	9.577e-06	1.089e-05	8.251e-06	0.0002	5.56e-06	4.35e-06	4.578e-05	3.272e-05	0	0	0	2.519e-05	0	0.0002	8.993e-07	4.967e-05	9.275e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.217	0.32610	T	0.089	0.40586	T	0.87	0.47827	P	0.084	0.29270	B	0.500530	0.11955	N	0.767743	1	0.08975	N	2.4	0.69460	M	1.54	0.30133	T	-0.31	0.12472	N	0.084	0.11197	-1.0491	0.14649	T	0.065	0.26983	T	10	0.08355847	0.13912	T	0.01254	0.31203	T	0.055	0.15663	0.33	0.31519	0.299770980665	0.29595	0.30033108596477376	0.29946	0.0649935155264	0.07263	0.243623971939	0.03126	T	0.039032	0.25050	T	-0.410152	0.01983	T	-0.645403	0.09280	T	0.32060769200325	0.25847	T	0.730627	0.34608	T	0.0245967	0.01307	0.032053273	0.01884	0.0245967	0.01307	0.032053273	0.01884	-4.427	0.32083	T	.	.	0.085	0.10159	B	.;.;.	.;.;.	1.229842	0.16246	12.41	0.98823469935701613	0.46819	0.62370	0.31761	D	AEFDGBCI	0.166274	0.29284	N	-0.631725805312693	0.17996	0.9308076	-0.735327075475505	0.16084	0.8491457	0.999989150825171	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.79	0.684	0.17167	1.471000	0.34973	.	.	-0.135000	0.12811	0.005000	0.17040	0.045000	0.21693	0.015000	0.10482	0.1211:0.3195:0.4495:0.1098	5.079	0.13982	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	35	chr7	6409889	.	G	A	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.63;DP=455;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.702;SOR=0.803	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1207,0,1305	9	0	1	0
chr7	6583386	6583386	T	C	exonic	ZDHHC4	.	nonsynonymous SNV	ZDHHC4:NM_001371293:exon5:c.T451C:p.C151R,ZDHHC4:NM_001371298:exon5:c.T391C:p.C131R,ZDHHC4:NM_001134387:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134389:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371292:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371296:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371297:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371299:exon6:c.T451C:p.C151R,ZDHHC4:NM_018106:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134388:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371294:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371295:exon7:c.T451C:p.C151R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0078	0.00279553	0.0051	0.0012	0.0036	0	0.0029	0.0076	0.0011	0.0026	0.0056274	870	154602	rs144937586	0.0080	0.0081	0.0083	0.0078	0.0094	0.0079	0.0079	0.0093	0.0092	0.0011	0.0025	0.0109	2.52e-05	0.0029	0.0057	0.0094	0.0071	0.0028	0.0056	0.0056	0.0058	0.0054	0.0089	0.0053	0.0052	0.0083	0.0081	0.0017	0.0285	0.0043	0.0115	0	0.0023	0	0.0089	0.0057	0.0021	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.05	0.99895	H	0.39	0.86010	T	-11.0	0.99399	D	0.978	0.99611	0.814	0.94584	D	0.813	0.93690	D	10	0.027118385	0.00863	T	.	.	.	0.614	0.84932	.	.	0.945805394361	0.94524	0.9826998763058142	0.98261	0.403258950643	0.41270	0.667209327221	0.62439	T	0.379432	0.74219	T	-0.129121	0.31639	T	0.0521385	0.73725	D	0.146796232529743	0.16845	T	0.690631	0.30012	T	0.9589247	0.97171	0.929022	0.97027	0.9589247	0.97172	0.929022	0.97028	-9.559	0.71226	D	.	.	0.848	0.82688	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626628	0.73518	26.0	0.99693707556912481	0.80112	0.99358	0.94979	D	AEFBI	0.952257	0.96756	D	0.799268391164261	0.86061	8.765888	0.637258878546838	0.77663	6.723262	0.999998400705788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	7.303000	0.78192	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	13.111	0.58686	858	0.34001	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;.;Palmitoyltransferase, DHHC domain	.	.	.	.	rs144937586	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	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.05	1204.43	35	chr7	6583386	.	T	C	1204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.392;DP=458;ExcessHet=0;FS=1.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.247;SOR=0.562	GT:AD:DP:GQ:PL	0/1:82,59:141:99:1216,0,1929	9	0	1	0
chr7	21894771	21894771	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon78:c.G12899A:p.R4300H	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	229589	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|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	.	.	.	.	.	.	.	.	0.130	0.00540154496653	0.0002	0.000399361	0.0005	0.0002	0.0006	0	0	0.0003	0	0.0022	0.0004657	72	154602	rs377388499	0.0003	0.0003	0.0002	0.0003	0.0022	0.0003	0.0002	0.0020	0.0019	6.004e-05	0.0002	0	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0022	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0	0.0004	0	0.0021	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.000007	0.62929	N	0.104170	0.992916	0.41780	D	.	.	.	2.89	0.10196	T	-3.92	0.73151	D	0.229	0.28965	-1.0863	0.06173	T	0.027	0.11485	T	9	0.010042906	0.00225	T	0.005402	0.13862	T	0.130	0.35528	.	.	0.247322355667	0.24350	0.3876008304815128	0.38675	.	.	0.246520906687	0.03410	T	0.209726	0.57002	T	-0.430524	0.01472	T	-0.397361	0.33691	T	0.0487815743853669	0.05284	T	0.822518	0.48242	T	0.1951857	0.41297	0.21421741	0.45963	0.19428328	0.41172	0.23337096	0.48523	-5.884	0.45299	T	0.4281443655002869	0.51574	0.089	0.12228	B	.;.;.	.;.;.	2.390271	0.30693	18.52	0.99597207696157319	0.73983	0.29028	0.23713	N	AEFBHI	0.241632	0.36322	N	-0.378700305676832	0.26229	1.429921	-0.476162998931966	0.22812	1.240914	0.0714775686266725	0.15568	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.6	2.83	0.32150	0.400000	0.20657	1.242000	0.25113	0.676000	0.76740	0.000000	0.06391	0.376000	0.24592	0.299000	0.24476	0.2869:0.0:0.7131:0.0	9.740	0.39580	841	0.37094	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2924.43	34	chr7	21894771	.	G	A	2924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.886;SOR=0.678	GT:AD:DP:GQ:PL	0/1:97,115:212:99:2936,0,2265	9	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	128.48	191	chr7	27094574	.	GACCC	G	128.48	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.838;DP=649;ExcessHet=0.2348;FS=132.811;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=2.2;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,16:145:10:0|1:27094574_GACCC_G:10,0,5025:27094574	8	0	2	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2035.01	38	chr7	27095697	.	ATGGTGGTGG	A	2035.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.29;DP=668;ExcessHet=0;FS=3.335;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=3.72;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,54:121:99:1|0:27095695_C_T:2046,0,2518:27095695	8	0	1	1
chr7	27095700	27095700	G	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	10	1349	116	9	38	172	0.0473164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2100.6	38	chr7	27095700	.	G	*	2100.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=673;ExcessHet=0.2348;FS=2.504;InbreedingCoeff=-0.113;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=1.56;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,54:121:99:1|0:27095695_C_T:2046,0,2518:27095695	9	0	1	0
chr7	27827745	27827745	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001362795:exon14:c.A1772G:p.E591G,TAX1BP1:NM_001206902:exon15:c.A1496G:p.E499G,TAX1BP1:NM_001079864:exon16:c.A1967G:p.E656G,TAX1BP1:NM_001206901:exon16:c.A1967G:p.E656G,TAX1BP1:NM_001362794:exon16:c.A2063G:p.E688G,TAX1BP1:NM_006024:exon16:c.A2093G:p.E698G	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0100391378195	.	0.00119808	0.0009	0.0002	0.0004	0	0	5.998e-05	0.0044	0.0058	0.0007568	117	154602	rs557561150	0.0005	0.0005	0.0003	0.0007	0.0060	0.0004	0.0004	0.0056	0.0054	0.0002	0.0002	0	0	0	0.0023	0.0001	0.0005	0.0060	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0	0.0079	0.133	0.26409	T	0.326	0.20422	T	0.003	0.27003	B	0.004	0.31755	B	0.010281	0.29986	N	0.229900	0.999971	0.18612	N	1.1	0.28011	L	2.76	0.34452	T	-1.67	0.43524	N	0.253	0.33030	-1.0558	0.12829	T	0.050	0.21222	T	10	0.0037594736	0.00070	T	0.010039	0.26102	T	0.054	0.15330	.	.	0.52991035303	0.52639	0.19708113009405367	0.19625	0.27360457221	0.29856	0.359190165997	0.19268	T	0.134693	0.46609	T	-0.550393	0.00290	T	-0.561182	0.16267	T	0.0307653312747144	0.02108	T	0.859214	0.55237	D	0.04913051	0.08677	0.06017375	0.11416	0.04913051	0.08676	0.06017375	0.11416	-4.464	0.30414	T	.	.	0.070	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.336400	0.45955	22.2	0.99398469161555514	0.62702	0.96687	0.70405	D	AEFBI	0.784441	0.71513	D	-0.208811591779282	0.32771	1.851958	-0.0836054969567901	0.36067	2.094313	0.988689451905778	0.31595	0.732398	0.92422	0	0.709663	0.81188	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.87	4.71	0.59010	4.189000	0.58156	9.245000	0.79449	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.7925:0.0:0.0713:0.1362	6.711	0.22466	502	0.75873	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	1310.43	35	chr7	27827745	.	A	G	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.461;DP=411;ExcessHet=0;FS=1.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.94;SOR=0.923	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1322,0,1049	9	0	1	0
chr7	38260101	38260101	C	-	exonic	TARP	.	frameshift deletion	TARP:NM_001003806:exon4:c.323delG:p.G108Efs*26	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.000998403	0.0052	0.0017	0.0040	0	0.0043	0.0076	0.0046	0.0012	0.0005379	14	26028	rs561829877	0.0052	0.0053	0.0053	0.0050	0.0061	0.0051	0.0050	0.0060	0.0060	0.0010	0.0024	0.0022	0	0.0040	0.0023	0.0061	0.0038	0.0010	0.0036	0.0036	0.0038	0.0035	0.0057	0.0034	0.0033	0.0052	0.0050	0.0012	0	0.0030	0.0023	0	0.0032	0.0035	0.0057	0.0050	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001868	0.000000	0.000000	0.000000	0.000000	0.008929	0.004032	0.000000	0.05	871.39	34	chr7	38260100	.	TC	T	871.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.95;MQRankSum=2.02;QD=4.76;ReadPosRankSum=-0.291;SOR=0.711	GT:AD:DP:GQ:PL	0/1:144,39:183:99:883,0,4812	9	0	1	0
chr7	42912022	42912022	G	T	exonic	C7orf25	.	nonsynonymous SNV	C7orf25:NM_001099858:exon1:c.C46A:p.P16T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.021676176121	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370605170	7.516e-06	7.525e-06	5.929e-06	9.148e-06	0.0002	3.8e-06	2.77e-06	9.719e-05	6.657e-05	0.0002	3.626e-05	0	0	0	0	0	5.421e-05	0	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.717e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0.0002	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.21933	N	.	.	.	0.69	0.51714	T	-0.08	0.08187	N	0.113	0.10056	-1.0455	0.15680	T	0.062	0.25780	T	9	0.049670786	0.04591	T	0.021676	0.44481	T	0.123	0.34020	0.17	0.07536	0.193865811164	0.18958	0.1842729939024889	0.18346	0.286599048066	0.31053	.	.	.	.	.	.	-0.459399	0.00992	T	-0.508085	0.21512	T	0.178984736439183	0.19171	T	0.448855	0.12628	T	.	.	.	.	.	.	.	.	-4.46	0.30362	T	.	.	0.090	0.12702	B	.;.	.;.	0.333038	0.07071	3.638	0.93349383348464454	0.23083	0.01238	0.04371	N	ALL	0.044686	0.07219	N	-0.904979672407977	0.10724	0.5139092	-0.877261702806252	0.12634	0.651006	0.999999999999994	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.003489	0.00041	3	.	.	4.55	2.61	0.30255	-1.786000	0.01862	-0.079000	0.12201	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1024:0.0:0.6448:0.2528	5.341	0.15288	856	0.34373	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	781.43	36	chr7	42912022	.	G	T	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.747;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.03;SOR=0.599	GT:AD:DP:GQ:PL	0/1:24,36:60:99:793,0,557	9	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:61,21:96:21:21,0,1190	4	0	6	0
chr7	43878610	43878610	G	A	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.C826T:p.P276S,URGCP:NM_001077663:exon6:c.C853T:p.P285S,URGCP:NM_001077664:exon6:c.C724T:p.P242S,URGCP:NM_001290075:exon6:c.C724T:p.P242S,URGCP:NM_001290076:exon7:c.C724T:p.P242S	.	.	.	.	.	.	.	.	.	.	.	3629333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00594796369794	.	.	8.333e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs754964606	6.842e-06	6.84e-06	9.531e-06	4.126e-06	0.0002	3.46e-06	2.52e-06	7.712e-05	5.305e-05	0.0002	2.236e-05	0	0	0	0	0	4.968e-05	0	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0002	2.109e-05	1.526e-05	7.889e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.041	0.45393	D	0.025	0.56192	D	0.024	0.19075	B	0.028	0.21332	B	0.069881	0.21575	N	0.474164	0.733902	0.29802	N	1.83	0.48079	L	3.03	0.08986	T	-3.13	0.63901	D	0.137	0.19593	-1.1147	0.02696	T	0.026	0.11131	T	10	0.1281023	0.24366	T	0.005948	0.15520	T	0.033	0.08068	.	.	0.137902524267	0.13322	0.45937540702013735	0.45855	0.920550017077	0.71431	0.299716502428	0.10359	T	0.21693	0.57923	T	-0.422682	0.01645	T	-0.608261	0.12126	T	0.0913736695088608	0.11380	T	0.741926	0.36121	T	0.073170446	0.16330	0.123116575	0.29691	0.073170446	0.16330	0.123116575	0.29690	-5.275	0.39695	T	.	.	0.092	0.13644	B	.;.;.;.	.;.;.;.	1.808229	0.22980	15.84	0.99358344020749756	0.60904	0.86272	0.45520	D	AEFDBI	0.275908	0.39076	N	-0.12678103935778	0.36228	2.091308	0.00122991127160547	0.39772	2.363343	0.999987195282235	0.51787	0.566229	0.32551	0	0.653731	0.59785	0	0.679469	0.61720	0	0.662433	0.64102	0	.	.	5.52	3.69	0.41483	1.193000	0.31771	3.466000	0.38548	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0799:0.1414:0.7787:0.0	9.680	0.39232	769	0.49307	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1531.43	38	chr7	43878610	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=473;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.185;SOR=0.606	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1543,0,1510	9	0	1	0
chr7	44966149	44966149	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.G2081A:p.R694H	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.0391720357182	.	0.000199681	8.388e-06	0	0	0	0	0	0	6.121e-05	1.29e-05	2	154602	rs555267455	1.643e-05	1.847e-05	1.362e-05	1.926e-05	1.979e-05	1.112e-05	9.34e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	3.313e-05	0	1.314e-05	1.312e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.538e-05	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001313	0.39449	N	0.000000	1	0.81001	D	4.65	0.99371	H	-0.86	0.74477	T	-4.53	0.78388	D	0.738	0.73826	0.634	0.92343	D	0.682	0.89014	D	10	0.85239625	0.84423	D	0.039172	0.58658	D	0.838	0.94914	.	.	0.789728907447	0.78777	0.8652226791420855	0.86487	0.44856165249	0.44682	0.654122114182	0.60571	T	0.761021	0.93526	D	0.302728	0.83186	D	0.297701	0.88093	D	0.940769173617047	0.61339	D	0.994251	0.98100	D	0.74256366	0.80439	0.44272697	0.67513	0.74256366	0.80440	0.44272697	0.67513	-10.619	0.77528	D	.	.	0.196	0.51472	B	.;.	.;.	4.931471	0.81311	27.5	0.99958836196075562	0.99990	0.89588	0.50148	D	AEFDGBHCI	0.823147	0.74332	D	0.813490059049641	0.86942	9.050285	0.708180006915315	0.83000	7.908352	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	4.877000	0.62779	5.918000	0.51122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	16.232	0.82169	716	0.55970	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1540.43	34	chr7	44966149	.	C	T	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.526;SOR=0.687	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1552,0,1233	9	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:101,20:135:83:83,0,3599	1	0	7	2
chr7	55170344	55170344	C	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_201284:exon16:c.C1918A:p.L640I	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	137772	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00479233	0.0023	0	0	0	0	5.995e-05	0.0033	0.0165	0.002044	316	154602	rs140443314	0.0010	0.0010	0.0006	0.0014	0.0155	0.0009	0.0009	0.0148	0.0145	2.987e-05	0	0	0	0	0.0003	4.047e-05	0.0011	0.0155	0.0006	0.0006	0.0004	0.0008	0.0170	0.0005	0.0004	0.0140	0.0129	7.221e-05	0	0	0	0	0	0	4.41e-05	0.0005	0.0170	0.0	0.91255	D	0.085	0.41074	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	-1.45	0.80899	T	0.46	0.03140	N	0.19	0.20793	-0.9562	0.39879	T	0.202	0.55822	T	9	0.0040607452	0.00079	T	.	.	.	0.045	0.12272	.	.	0.660808681621	0.65796	.	.	.	.	.	.	.	.	.	.	-0.492785	0.00628	T	-0.467654	0.25770	T	0.0528644290660819	0.05996	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	-4.304	0.28232	T	.	.	0.074	0.05274	B	.	.	0.627728	0.09959	6.718	0.9671195275431389	0.30814	0.02856	0.07618	N	AEFDBI	0.032448	0.03667	N	-1.15787368592074	0.05651	0.2581947	-1.19098643122914	0.06060	0.2905468	0.953866192536632	0.28098	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	2.7	0.736	0.17456	0.328000	0.19425	-0.056000	0.12484	0.580000	0.29708	0.052000	0.21487	0.000000	0.08366	0.134000	0.19723	0.2439:0.6123:0.0:0.1438	3.503	0.07239	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1045.43	34	chr7	55170344	.	C	A	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.754;DP=417;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.547;SOR=1.292	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1057,0,1398	9	0	1	0
chr7	75422156	75422156	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.C2096T:p.P699L	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	.	0.0236	0.1553	0.0160	0.0705	0.0013	0.0031	0.0055	0.0054	0.0051164	791	154602	rs111245070	0.0014	0.0024	0.0014	0.0015	0.0040	0.0014	0.0013	0.0035	0.0032	0.0040	0.0020	0.0008	0.0003	0.0009	0.0021	0.0013	0.0016	0.0019	0.0022	0.0065	0.0022	0.0022	0.0034	0.0020	0.0020	0.0029	0.0028	0.0034	0	0.0031	0.0017	0.0006	0.0007	0.0068	0.0016	0.0057	0.0023	.	.	.	0.004	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.342870	0.13936	N	0.537521	0.997966	0.22421	N	.	.	.	.	.	.	.	.	.	0.491	0.54322	-1.1328	0.01653	T	0.001	0.00318	T	10	0.0036511421	0.00067	T	.	.	.	.	.	.	.	.	.	0.1515238076535719	0.15074	.	.	0.536111354828	0.43897	T	0.048898	0.28150	T	-0.412054	0.01926	T	-0.301284	0.44589	T	0.0380778894381519	0.03347	T	0.90371	0.66210	D	0.047115937	0.08001	0.08508483	0.19619	0.047115937	0.08001	0.08508483	0.19618	-3.303	0.16501	T	.	.	0.132	0.28348	B	.;.	.;.	4.520773	0.70884	25.6	0.99069324025608885	0.51692	0.77522	0.38125	D	AEFBI	0.292973	0.40371	N	0.0167897836888215	0.42618	2.571334	-0.152695531575312	0.33305	1.903723	0.0503385009946496	0.14836	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	2.84	2.84	0.32241	4.077000	0.57320	8.546000	0.77510	0.480000	0.22105	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	11.205	0.47993	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017162	0.038961	0.016575	0.022124	0.000000	0.008772	0.006803	0.007937	0.05	660.43	53	chr7	75422156	.	G	A	660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=437;ExcessHet=0;FS=18.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.04;MQRankSum=0.304;QD=10.65;ReadPosRankSum=-1.815;SOR=2.828	GT:AD:DP:GQ:PL	0/1:39,23:62:99:672,0,981	9	0	1	0
chr7	76400331	76400331	C	T	exonic	SSC4D	.	nonsynonymous SNV	SSC4D:NM_080744:exon4:c.G430A:p.V144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00376251418997	7.7e-05	0.000399361	5.581e-05	0.0001	8.761e-05	0.0002	0	3.237e-05	0	0	5.17e-05	8	154602	rs370215401	2.666e-05	3.42e-05	2.615e-05	2.718e-05	0.0001	1.952e-05	1.732e-05	4.725e-05	2.77e-05	0.0001	0	0	0	2.001e-05	0	2.467e-05	3.619e-05	4.187e-05	2.625e-05	2.624e-05	1.284e-05	4.026e-05	6.533e-05	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.533e-05	0	0	0	0	4.409e-05	0	0	0.289	0.15047	T	0.292	0.20877	T	0.032	0.20242	B	0.015	0.17295	B	0.000146	0.49130	N	0.136428	0.970194	0.81001	N	1.225	0.30651	L	0.66	0.52416	T	-0.3	0.11913	N	0.131	0.12627	-1.0996	0.04140	T	0.066	0.27087	T	10	0.04336375	0.03178	T	0.003763	0.08744	T	0.017	0.02790	.	.	0.303123707472	0.29912	0.11048834208946198	0.10977	0.0402003435154	0.04305	0.378241479397	0.22006	T	0.049378	0.28290	T	-0.402462	0.02231	T	-0.622236	0.11010	T	0.0339255774417912	0.02624	T	0.70393	0.31399	T	0.056099024	0.10991	0.035759915	0.02890	0.056099024	0.10990	0.035759915	0.02889	-6.291	0.48650	T	.	.	0.070	0.03625	B	.	.	1.142167	0.15295	11.74	0.99101689228759648	0.52496	0.15435	0.18910	N	AEFDBI	0.114225	0.22507	N	-0.731075073778076	0.15152	0.7611324	-0.660772400310276	0.17945	0.9564666	0.966015804127323	0.28872	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.45	1.55	0.22356	0.020000	0.13359	-1.114000	0.06289	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.992000	0.67800	0.127:0.5232:0.0:0.3498	5.292	0.15043	871	0.31377	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	432.43	35	chr7	76400331	.	C	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=375;ExcessHet=0;FS=4.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.034;SOR=1.152	GT:AD:DP:GQ:PL	0/1:31,16:47:99:444,0,805	9	0	1	0
chr7	76440265	76440265	C	T	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon6:c.C847T:p.H283Y,ZP3:NM_007155:exon7:c.C694T:p.H232Y	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0368710030897	0.0003	0.000998403	0.0003	0.0023	0	0	0	0.0001	0	0	0.0002305	6	26028	rs149689401	5.826e-05	8.003e-05	6.955e-05	4.685e-05	0.0020	4.819e-05	4.44e-05	0.0016	0.0015	0.0020	4.522e-05	0	2.539e-05	0	0	4.501e-06	0.0001	1.165e-05	0.0005	0.0006	0.0005	0.0004	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0003	0	0	0	0	0	0	0	0.044	0.43393	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.002206	0.37012	U	0.257437	0.811873	0.34652	D	2.435	0.70606	M	-1.61	0.82254	D	-4.67	0.82221	D	0.463	0.51494	0.488	0.90374	D	0.662	0.88265	D	10	0.0400486	0.02542	T	0.036871	0.57261	D	0.507	0.78786	.	.	0.660900288065	0.65805	0.6588668950473383	0.65823	2.72559754066	0.98638	0.510797142982	0.40334	T	0.549505	0.84720	D	-0.256413	0.13323	T	-0.148359	0.59389	T	0.182223783253397	0.19375	T	0.918208	0.72410	D	0.28272206	0.51308	0.30194813	0.56227	0.28272206	0.51308	0.30194813	0.56226	-10.826	0.78695	D	0.4793334283647458	0.55828	0.262	0.54448	B	.;.;.	.;.;.	3.513899	0.49220	22.7	0.99245668372199591	0.56695	0.74686	0.36542	D	AEFBI	0.121890	0.23678	N	0.312522211025924	0.56790	3.844433	0.305874027946764	0.55883	3.751282	0.214347660820583	0.18278	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.33	4.33	0.51083	2.529000	0.45292	7.373000	0.58408	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.848000	0.40082	0.1966:0.8034:0.0:0.0	10.363	0.43188	881	0.29269	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	260.43	35	chr7	76440265	.	C	T	260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=441;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.95;MQRankSum=0.054;QD=2.43;ReadPosRankSum=-0.845;SOR=0.439	GT:AD:DP:GQ:PL	0/1:89,18:107:99:272,0,2526	9	0	1	0
chr7	77273711	77273711	-	GAT	exonic	CCDC146	.	nonframeshift insertion	CCDC146:NM_020879:exon10:c.1191_1192insGAT:p.D399_S400insD	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000998403	0.0003	0.0030	0	0	0	1.504e-05	0	0	0.0002587	40	154602	rs370083763	8.919e-05	8.961e-05	0.0001	7.172e-05	0.0033	7.645e-05	7.189e-05	0.0028	0.0026	0.0033	0.0001	0	0	0	0.0005	2.704e-06	0.0001	1.168e-05	0.0008	0.0008	0.0008	0.0009	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0003	0	0	0	0	4.412e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1277.39	33	chr7	77273711	.	A	AGAT	1277.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.351;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=-0.984;SOR=0.622	GT:AD:DP:GQ:PL	0/1:32,33:65:99:1289,0,1244	9	0	1	0
chr7	80646851	80646854	AATT	-	exonic	CD36	.	frameshift deletion	CD36:NM_001127444:exon1:c.111_114del:p.I38Kfs*38,CD36:NM_001289908:exon1:c.111_114del:p.I38Kfs*38,CD36:NM_001127443:exon2:c.111_114del:p.I38Kfs*38,CD36:NM_001289909:exon2:c.111_114del:p.I38Kfs*38,CD36:NM_000072:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001001547:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001001548:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371074:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371075:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371077:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371078:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371079:exon3:c.111_114del:p.I38Kfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1513	5	0	0	5	0.00164962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1923.39	35	chr7	80646850	.	CAATT	C	1923.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.206;DP=385;ExcessHet=0;FS=2.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.17;ReadPosRankSum=-1.239;SOR=0.414	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1935,0,1280	9	0	1	0
chr7	80673392	80673392	-	TTCT	exonic	CD36	.	frameshift insertion	CD36:NM_001289908:exon9:c.1120_1121insTTCT:p.W376Sfs*4,CD36:NM_001371080:exon10:c.772_773insTTCT:p.W260Sfs*4,CD36:NM_001127444:exon11:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001289909:exon11:c.1057_1058insTTCT:p.W355Sfs*4,CD36:NM_001289911:exon11:c.1009_1010insTTCT:p.W339Sfs*4,CD36:NM_001127443:exon12:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_000072:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001547:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001548:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371074:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371075:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371077:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371078:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371079:exon13:c.1135_1136insTTCT:p.W381Sfs*4,CD36:NM_001371081:exon13:c.772_773insTTCT:p.W260Sfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020402	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.703e-05	0	0	0	0	0.0019	0.0002135	33	154602	rs757142781	0.0002	0.0002	6.199e-05	0.0003	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	0	0.0002	0.0025	0.0001	0.0001	2.577e-05	0.0002	0.0035	8.683e-05	7.271e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	789.39	37	chr7	80673392	.	A	ATTCT	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.833;DP=306;ExcessHet=0;FS=5.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.793;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,20:33:99:801,0,481	9	0	1	0
chr7	90384936	90384936	G	A	exonic	GTPBP10	.	nonsynonymous SNV	GTPBP10:NM_001042717:exon8:c.G709A:p.V237I,GTPBP10:NM_033107:exon10:c.G946A:p.V316I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00296216610313	.	.	5.777e-05	0	0	0	0	1.501e-05	0	0.0004	4.53e-05	7	154602	rs745997084	1.507e-05	1.505e-05	5.453e-06	2.478e-05	0.0002	9.87e-06	8.42e-06	0.0002	0.0001	0	0	0	0	0	0	1.801e-06	0	0.0002	1.97e-05	1.968e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.768	0.04417	T	0.746	0.04877	T	0.0	0.02946	B	0.003	0.08700	B	0.622612	0.05764	N	1.178770	1	0.08975	N	-1.05	0.01069	N	2.02	0.21119	T	0.42	0.03352	N	0.031	0.00770	-0.9936	0.31670	T	0.025	0.10688	T	9	0.020967573	0.00493	T	0.002962	0.06309	T	0.054	0.15330	0.467	0.53891	0.104622674875	0.10061	0.10024040645703976	0.09955	0.026182334358	0.02673	0.226937502623	0.01749	T	0.001744	0.01167	T	-0.596026	0.00154	T	-0.814491	0.01567	T	0.0220093538525983	0.00910	T	0.711229	0.32236	T	0.01565001	0.00150	0.025746789	0.00631	0.01565001	0.00150	0.025746789	0.00630	-2.33	0.04722	T	.	.	0.076	0.06024	B	.;.	.;.	-1.174284	0.00558	0.013	0.6606148213474381	0.07950	0.01832	0.05685	N	AEFGBCI	0.033368	0.03942	N	-1.68644357294473	0.00891	0.03855901	-1.79022293174679	0.00791	0.03529434	0.999999999995449	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.74	-11.5	0.00057	-2.318000	0.01202	-4.096000	0.02345	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1656:0.2997:0.5346:0.0	14.869	0.70074	674	0.60593	.;OBG-type guanine nucleotide-binding (G) domain|OBG-type guanine nucleotide-binding (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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	34	chr7	90384936	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.534;DP=373;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.76;SOR=1.061	GT:AD:DP:GQ:PL	0/1:25,34:59:99:900,0,563	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,30:181:22:0|1:93102964_C_G:22,0,5264:93102964	2	0	8	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,30:181:22:0|1:93102964_C_G:22,0,5264:93102964	0	0	10	0
chr7	93103090	93103090	T	C	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.A3008G:p.N1003S,SAMD9:NM_017654:exon3:c.A3008G:p.N1003S	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	2	1504	15	1	0	17	0.00561983	.	.	.	700285	not_provided|SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00166449485854	0.0011	0.00139776	0.0016	0	0	0	0.0014	0.0018	0	0.0039	0.0014165	219	154602	rs146087534	0.0011	0.0011	0.0009	0.0013	0.0044	0.0010	0.0010	0.0041	0.0039	0.0001	6.709e-05	0.0049	0	0.0015	0.0017	0.0008	0.0012	0.0044	0.0010	0.0010	0.0012	0.0008	0.0048	0.0009	0.0008	0.0033	0.0028	0	0.0022	0.0002	0.0046	0	0.0010	0	0.0014	0	0.0048	0.524	0.08384	T	0.607	0.07766	T	0.001	0.07471	B	0.001	0.04355	B	0.306339	0.03987	N	1.562160	1	0.08975	N	-0.205	0.04094	N	2.06	0.20523	T	-0.16	0.09460	N	0.034	0.00942	-1.0068	0.27912	T	0.026	0.11087	T	10	0.0070096552	0.00159	T	0.001664	0.02728	T	0.021	0.04004	.	.	0.236890367714	0.23314	0.13326230050143367	0.13250	0.119802300629	0.13497	0.281596302986	0.07715	T	0.002163	0.06460	T	-0.718153	0.00028	T	-0.80551	0.01768	T	0.00708051648783643	0.00081	T	0.514549	0.16570	T	0.04568088	0.07518	0.036580313	0.03134	0.04568088	0.07518	0.036580313	0.03134	-1.471	0.01706	T	0.06905291115663832	0.02557	0.062	0.01512	B	.;.;.	.;.;.	0.348753	0.07221	3.814	0.26150751685118251	0.01239	0.13109	0.17668	N	AEFBI	0.128610	0.24644	N	-0.993866258884984	0.08734	0.4106606	-0.930594312053717	0.11374	0.5790482	0.0214806124056829	0.13352	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.645948	0.59608	0	.	.	4.79	0.837	0.18032	0.482000	0.21985	0.685000	0.20714	0.643000	0.52288	0.000000	0.06391	0.001000	0.17328	0.104000	0.18471	0.0:0.1903:0.2439:0.5657	5.079	0.13984	805	0.43675	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4495.14	98	chr7	93103090	.	T	C	4495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.805;DP=1033;ExcessHet=0.2348;FS=1.744;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.544;SOR=0.848	GT:AD:DP:GQ:PL	0/1:109,89:198:99:2146,0,2666	8	0	2	0
chr7	94664227	94664227	C	T	exonic	PEG10	.	nonsynonymous SNV	PEG10:NM_001040152:exon2:c.C671T:p.A224V,PEG10:NM_001172438:exon2:c.C899T:p.A300V,PEG10:NM_001184962:exon2:c.C773T:p.A258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00673069802974	.	.	1.663e-05	0	8.652e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs763573128	9.579e-06	9.577e-06	6.807e-06	1.238e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	0	6.708e-05	0	0	0	0	3.598e-06	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.18	0.54934	T	0.043	0.21573	B	0.011	0.15521	B	.	.	.	.	0.999994	0.08975	N	1.715	0.44382	L	2.65	0.12676	T	-1.58	0.38151	N	0.218	0.24385	-1.0538	0.13359	T	0.023	0.09878	T	9	0.11167851	0.20920	T	0.006731	0.17784	T	0.051	0.14325	0.383	0.40134	0.134007934775	0.12933	0.5585139792387334	0.55778	1.00237348674	0.74455	0.493125855923	0.37872	T	0.051662	0.28944	T	-0.265263	0.12291	T	-0.416155	0.31517	T	0.348654270172119	0.26966	T	0.752925	0.37500	T	.	.	.	.	.	.	.	.	-4.239	0.27313	T	.	.	0.262	0.49616	B	.;.;.;.;.;.	.;.;.;.;.;.	4.171386	0.62719	24.5	0.99710936366329461	0.81353	0.21167	0.21305	N	AEFDBCI	0.105780	0.21126	N	-0.41012166204321	0.25114	1.360903	-0.315940761979142	0.27583	1.531629	0.990907378749474	0.32307	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.05	4.05	0.46415	3.067000	0.49706	7.441000	0.58873	0.596000	0.33519	0.034000	0.20669	0.994000	0.32194	0.019000	0.11356	0.0:0.8864:0.0:0.1136	7.877	0.28764	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1443.43	34	chr7	94664227	.	C	T	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.248;DP=429;ExcessHet=0;FS=4.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=0.385	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1455,0,1534	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,22:86:99:0|1:100175805_G_C:313,0,2217:100175805	0	0	10	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,56:96:99:0|1:100773851_A_G:4005,1138,861:100773851	2	3	5	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	21426.9	92	chr7	100773854	.	G	*	21426.9	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.684;DP=859;ExcessHet=0.0952;FS=0.694;InbreedingCoeff=0.3407;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=-0.848;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,38:94:99:0|1:100773849_CCAT_C:3938,1651,1399:100773849	8	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,160:663:99:0|1:100952942_T_G:5584,0,15349:100952942	3	0	7	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,109:505:99:0|1:100953098_G_C:3472,0,15082:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:366,103:498:99:3223,0,15058	1	0	9	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	42275.8	541	chr7	100960582	.	T	*	42275.8	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.435;DP=6282;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.055;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,112:513:99:0|1:100960582_T_A:5212,0,11611:100960582	7	0	3	0
chr7	101032659	101032659	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A1243G:p.T415A	.	427	1088	7	0	0	7	0.0032066	.	.	.	2826027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000956035110075	0.0046	0.00179712	0.0037	0.0012	0.0016	0	0.0011	0.0054	0.0066	0.0024	0.0037128	574	154602	rs145279256	0.0070	0.0068	0.0072	0.0068	0.0083	0.0069	0.0068	0.0081	0.0081	0.0011	0.0029	0.0052	2.692e-05	0.0016	0.0014	0.0083	0.0059	0.0030	0.0043	0.0043	0.0046	0.0039	0.0074	0.0040	0.0039	0.0069	0.0066	0.0014	0.0033	0.0034	0.0035	0	0.0008	0	0.0074	0.0038	0.0015	0.169	0.22920	T	.	.	.	0.191	0.29411	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	4.37	0.02277	T	-0.08	0.08187	N	0.046	0.01825	-0.8978	0.48214	T	0.003	0.01026	T	9	0.0050201714	0.00108	T	9.56E-4	0.00957	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.004178214482374494	0.00391	.	.	0.207869395614	0.00724	T	0.016724	0.13769	T	-0.716533	0.00029	T	-0.797742	0.01960	T	0.00760748272969029	0.00088	T	0.271373	0.04588	T	0.028834486	0.02283	0.03241514	0.01973	0.028834486	0.02283	0.03241514	0.01973	-6.201	0.47931	T	.	.	0.101	0.17530	B	.	.	-0.201024	0.03086	0.485	0.2842355011326142	0.01459	0.00189	0.01098	N	AEFBI	0.028769	0.02595	N	-1.26590189969864	0.04093	0.1841085	-1.37517767006904	0.03518	0.1642871	2.62622569382389E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	1.22	-0.0841	0.13026	-0.919000	0.04125	-7.147000	0.01220	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7905:0.0:0.2094:0.0	4.615	0.11808	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	15771.1	33	chr7	101032659	.	A	G	15771.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.82;DP=3207;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0.993;QD=13.1;ReadPosRankSum=0.917;SOR=0.642	GT:AD:DP:GQ:PL	0/1:247,272:519:99:7057,0,6176	8	0	2	0
chr7	101037268	101037268	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5852A:p.A1951D	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00143959125715	0.0002	0.000798722	0.0001	0.0012	0.0002	0	0	0	0	6.3e-05	0.0001229	19	154602	rs188270675	6.101e-05	6.088e-05	5.455e-05	6.753e-05	0.0018	5.038e-05	4.681e-05	0.0015	0.0013	0.0018	8.968e-05	0	0	0	0.0003	0	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	0	0	0	0.116	0.28395	T	.	.	.	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	4.16	0.02791	T	-0.87	0.23590	N	0.082	0.05799	-0.9022	0.47760	T	0.004	0.01365	T	9	0.012021303	0.00260	T	0.00144	0.02164	T	0.008	0.00669	.	.	0.0666544352282	0.05500	0.006063868460400826	0.00575	.	.	0.306573241949	0.11389	T	0.017711	0.14403	T	-0.650916	0.00072	T	-0.753324	0.03358	T	0.00456563713266082	0.00049	T	0.29867	0.05569	T	0.09071954	0.21235	0.06501221	0.13116	0.09071954	0.21235	0.06501221	0.13116	-7.367	0.56671	T	.	.	0.226	0.45762	B	.	.	-0.883857	0.00954	0.037	0.24732363827834219	0.01107	0.01816	0.05653	N	AEFBCI	0.056240	0.10381	N	-1.78680665893069	0.00578	0.02490591	-1.85624590862087	0.00595	0.02644586	1.5260082399649E-4	0.05650	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.932	-1.86	0.07340	-1.955000	0.01614	-20.000000	0.00162	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2497:0.5521:0.0:0.1982	3.114	0.05984	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	7279.43	569	chr7	101037268	.	C	A	7279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.134;DP=4452;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=1.06;QD=13.46;ReadPosRankSum=-1.089;SOR=0.591	GT:AD:DP:GQ:PL	0/1:255,286:541:99:7291,0,6767	9	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	302.73	151	chr7	102934283	.	G	C	302.73	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.272;DP=1206;ExcessHet=0.2348;FS=174.798;InbreedingCoeff=-0.2507;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.04;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,26:166:21:0|1:102934282_G_C:21,0,4921:102934282	5	0	2	3
chr7	138659924	138659924	T	C	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_001331192:exon3:c.A137G:p.Y46C,SVOPL:NM_001139456:exon6:c.A410G:p.Y137C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.123583705591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999981	0.81001	D	3.75	0.95014	H	0.13	0.60973	T	-6.62	0.92128	D	0.983	0.99260	-0.0264	0.81707	T	0.429	0.77120	T	9	0.9077872	0.90143	D	0.123584	0.80478	D	0.664	0.87479	0.618	0.75232	0.844916820699	0.84343	0.9173685877691236	0.91711	0.262336419958	0.28795	0.796622633934	0.81449	T	0.64702	0.89243	D	0.352294	0.86657	D	0.26827	0.86482	D	0.989731132984161	0.79956	D	0.948805	0.80311	D	0.64127547	0.74899	0.56262267	0.74690	0.64127547	0.74901	0.56262267	0.74691	-12.23	0.85953	D	.	.	0.708	0.73280	P	.	.	5.156418	0.86381	28.9	0.99816656108828838	0.89973	0.94056	0.59980	D	AEFBI	0.846099	0.76299	D	0.699516406787461	0.79599	7.112139	0.604506676177801	0.75265	6.280368	0.999998691577528	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.18	5.18	0.71140	7.037000	0.76256	7.618000	0.62188	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.435000	0.27561	0.0:0.0:0.0:1.0	14.022	0.64081	916	0.20744	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1330.43	34	chr7	138659924	.	T	C	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.612;SOR=0.671	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1342,0,1524	9	0	1	0
chr7	138678510	138678510	G	T	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_001139456:exon3:c.C98A:p.T33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0811187348971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.448e-06	9.267e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.267e-07	1.72e-05	0	6.57e-06	6.566e-06	1.284e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.123	0.59928	T	0.037	0.72224	D	0.996	0.68779	D	0.905	0.64260	P	.	.	.	.	0.999888	0.50402	D	2.42	0.70002	M	-0.19	0.74159	T	-2.3	0.75695	N	0.589	0.66187	-0.0699	0.80783	T	0.499	0.81052	T	9	0.63680655	0.68829	D	0.081119	0.73612	D	0.301	0.62179	0.277	0.23004	0.835722407845	0.83415	0.49957224412750073	0.49878	0.246384099497	0.27178	0.662533760071	0.61772	T	0.175039	0.52448	T	0.0427647	0.57406	T	-0.176348	0.56860	T	0.866349949766715	0.51641	D	0.872913	0.64163	D	0.3917297	0.60155	0.3446965	0.60163	0.3917297	0.60155	0.3446965	0.60162	-8.746	0.66047	D	.	.	0.454	0.62406	A	.;.	.;.	4.069653	0.60461	24.2	0.97681297143157064	0.35317	0.95475	0.64868	D	AEFDBI	0.676229	0.64134	D	0.525993355882043	0.68632	5.243959	0.487930030141485	0.67191	5.050835	0.99999641308566	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	6.656000	0.74245	11.492000	0.92931	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.0:0.0:1.0:0.0	15.908	0.79230	917	0.20147	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	585.43	36	chr7	138678510	.	G	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.652;SOR=0.629	GT:AD:DP:GQ:PL	0/1:42,27:69:99:597,0,938	9	0	1	0
chr7	138861146	138861146	G	C	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.C5240G:p.P1747R,KIAA1549:NM_020910:exon16:c.C5240G:p.P1747R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0443187996043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.003	0.76473	D	0.993	0.65571	D	0.878	0.62312	P	0.003601	0.34713	N	0.278041	0.999996	0.08975	N	2.67	0.78151	M	1.53	0.32482	T	-5.46	0.86914	D	0.196	0.29774	-1.0119	0.26322	T	0.134	0.44817	T	10	0.30684316	0.48191	T	0.044319	0.61427	D	0.165	0.42395	0.428	0.47515	0.184605227958	0.18053	0.47842585673667853	0.47762	0.431796011397	0.43370	0.468514353037	0.34475	T	0.070773	0.34043	T	-0.118947	0.33295	T	-0.408636	0.32382	T	0.925972402095795	0.58799	D	0.723828	0.33737	T	0.29367244	0.52332	0.28053713	0.54029	0.29367244	0.52332	0.28053713	0.54028	-4.064	0.26708	T	.	.	0.172	0.45086	B	.;.	.;.	3.636961	0.51552	23.1	0.99655705394868832	0.77568	0.94175	0.60340	D	AEFDBI	0.453037	0.50634	N	0.216427410681676	0.51996	3.376641	0.135514008877651	0.46379	2.884835	0.975563743399341	0.29645	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	4.6	0.56512	2.602000	0.45921	8.554000	0.77540	0.671000	0.69459	0.287000	0.25205	1.000000	0.68203	0.132000	0.19645	0.0:0.0:0.8447:0.1553	13.610	0.61543	723	0.55174	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	982.43	33	chr7	138861146	.	G	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=439;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.052;SOR=0.536	GT:AD:DP:GQ:PL	0/1:68,46:114:99:994,0,1630	9	0	1	0
chr7	138916769	138916769	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon2:c.G2857A:p.D953N,KIAA1549:NM_020910:exon2:c.G2857A:p.D953N	.	.	.	.	.	.	.	.	.	.	.	1074463	KIAA1549-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.157	0.02283161034	0.0013	0.00219649	0.0005	0.0060	0.0002	0	0	7.562e-05	0.0011	0	0.0005045	78	154602	rs61734245	0.0002	0.0002	0.0002	0.0001	0.0050	0.0001	0.0001	0.0044	0.0042	0.0050	0.0003	0	0	0	0.0002	1.349e-05	0.0007	1.16e-05	0.0015	0.0015	0.0017	0.0014	0.0051	0.0014	0.0013	0.0045	0.0043	0.0051	0	0.0010	0	0	0	0	2.94e-05	0.0028	0	0.014	0.54683	D	0.008	0.67890	D	1.0	0.90584	D	0.993	0.81110	D	0.000002	0.62929	D	0.000000	0.999847	0.49770	D	1.87	0.49600	L	1.72	0.26588	T	-2.29	0.50992	N	0.28	0.31702	-1.0254	0.21952	T	0.111	0.39770	T	10	0.009317249	0.00210	T	0.022832	0.45752	T	0.157	0.40909	.	.	0.189391138174	0.18552	0.7885440582076289	0.78806	0.111335960107	0.12561	0.581606924534	0.50311	T	0.028687	0.20722	T	-0.49007	0.00649	T	-0.475223	0.24954	T	0.00933861579450192	0.00119	T	0.858514	0.54939	D	0.19987635	0.41942	0.15185587	0.35753	0.19987635	0.41942	0.15185587	0.35753	-8.075	0.61580	D	.	.	0.123	0.25850	B	.;.	.;.	4.257532	0.64674	24.7	0.99917011813487033	0.98449	0.94238	0.60535	D	AEFDBI	0.288912	0.40069	N	0.394256286408739	0.61112	4.307856	0.352055286920695	0.58631	4.034832	0.999999931942398	0.74766	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.37	4.37	0.51830	2.966000	0.48900	5.803000	0.49951	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	16.436	0.83717	562	0.71143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001011	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1693.43	37	chr7	138916769	.	C	T	1693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.19;DP=595;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.655;SOR=0.617	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1705,0,1678	9	0	1	0
chr7	139614492	139614492	G	A	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_022740:exon8:c.C1784T:p.A595V	.	.	.	.	.	.	.	.	0.4412	0.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0474481057809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.328e-07	7.561e-06	0	1.712e-06	1.039e-06	0	0	.	.	0	0	0	0	0	0	1.039e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.489	0.15059	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.998956	0.81001	D	.	.	.	0.67	0.52187	T	-0.58	0.17417	N	0.529	0.61511	-1.0705	0.09304	T	0.093	0.35390	T	8	0.30987635	0.48470	T	0.047448	0.62924	D	0.062	0.17934	0.066	0.00312	0.553613530234	0.55019	0.32720391015854233	0.32633	0.44134038575	0.44124	0.517784118652	0.41314	T	0.161266	0.50545	T	-0.149983	0.28314	T	-0.453216	0.27341	T	0.583903759283412	0.35769	D	0.634537	0.27701	T	0.048329554	0.08406	0.09353187	0.22095	0.048329554	0.08406	0.09353187	0.22094	-1.692	0.02208	T	.	.	0.104	0.18705	B	.;.	.;.	3.923317	0.57294	23.8	0.99256542791234592	0.57055	0.93816	0.59273	D	AEFBCI	0.657221	0.62893	D	0.417016637654045	0.62357	4.450356	0.441178988619543	0.64151	4.663966	0.999999573393191	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.78367	0.99111	0	0.635551	0.53088	0	.	.	5.39	4.5	0.54382	5.853000	0.69232	8.686000	0.78060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0736:0.0:0.9264:0.0	13.876	0.63153	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	64.94	38	chr7	139614492	.	G	A	64.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.238;DP=655;ExcessHet=0.2348;FS=86.237;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.698;SOR=7.137	GT:AD:DP:GQ:PL	0/1:57,18:75:39:39,0,935	4	0	2	4
chr7	141919142	141919142	G	A	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00203407746988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	8.961e-05	2.35e-06	1.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.993e-07	6.623e-05	0	6.568e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.412	0.10083	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.78	0.01655	N	4.1	0.02944	T	-0.9	0.24244	N	0.117	0.10626	-0.9236	0.45056	T	0.005	0.01542	T	9	0.070971936	0.10398	T	0.002034	0.03695	T	0.097	0.27909	0.467	0.53891	0.238705975628	0.23479	0.1708481357035193	0.17004	0.0387551026412	0.04121	0.264922529459	0.05491	T	0.008126	0.07480	T	-0.318491	0.07022	T	-0.695267	0.06088	T	0.043599376052664	0.04348	T	0.253275	0.03871	T	0.16262901	0.36352	0.22728762	0.47733	0.16262901	0.36352	0.22728762	0.47732	-2.179	0.03940	T	.	.	0.176	0.38534	B	.;.	.;.	0.554931	0.09233	6.017	0.64274537243952878	0.07448	0.03611	0.08844	N	AEFI	0.048183	0.08195	N	-0.862872257275722	0.11735	0.5679453	-0.803702914295113	0.14407	0.7525458	2.3110281731073E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	1.74	0.23636	-1.626000	0.02137	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2294:0.0:0.5661:0.2045	3.270	0.06473	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2010.43	39	chr7	141919142	.	G	A	2010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=476;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.621;SOR=0.827	GT:AD:DP:GQ:PL	0/1:62,78:140:99:2022,0,1640	9	0	1	0
chr7	142080827	142080827	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.G5884A:p.V1962I	.	449	1053	20	0	0	20	0.00940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0419329	0.0191	0.0086	0.0013	0.0637	0	0.0014	0.0127	0.0926	0.0165522	2559	154602	rs117482862	0.0082	0.0081	0.0059	0.0105	0.0851	0.0080	0.0080	0.0834	0.0827	0.0082	0.0012	0.0098	0.0623	1.941e-05	0.0069	0.0005	0.0119	0.0851	0.0087	0.0088	0.0072	0.0102	0.0981	0.0083	0.0081	0.0906	0.0877	0.0081	0	0.0031	0.0114	0.0677	0	0	0.0009	0.0050	0.0981	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	0.994818	0.81001	P	.	.	.	.	.	.	.	.	.	0.065	0.03726	-0.9829	0.34328	T	0.021	0.08732	T	4	0.0026019514	0.00040	T	.	.	.	0.018	0.03083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527307	0.00398	T	-0.483103	0.24118	T	0.0256323700263927	0.01357	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.588516	0.20318	14.69	0.66264928345314078	0.08008	0.91791	0.54270	D	AEFDGI	0.291667	0.40274	N	-0.116246398793108	0.36684	2.123831	-0.125400422807833	0.34370	1.976225	0.0231090643267659	0.13482	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	2.87	0.32523	2.151000	0.41888	.	.	0.672000	0.70159	0.996000	0.39380	0.049000	0.21787	0.512000	0.29290	0.1689:0.0:0.8311:0.0	9.987	0.41019	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1886.43	34	chr7	142080827	.	G	A	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.796;SOR=0.673	GT:AD:DP:GQ:PL	0/1:100,80:180:99:1898,0,2451	9	0	1	0
chr7	142082570	142082570	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon52:c.G6267A:p.M2089I	.	449	1053	20	0	0	20	0.00940734	0.9497	0.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.0421326	0.0339	0.0130	0.0035	0.1053	0	0.0028	0.0094	0.1007	0.0145147	2244	154602	rs149265215	0.0079	0.0080	0.0057	0.0102	0.0843	0.0078	0.0077	0.0827	0.0820	0.0080	0.0011	0.0099	0.0618	2.204e-05	0.0068	0.0005	0.0118	0.0843	0.0085	0.0088	0.0071	0.0099	0.0956	0.0081	0.0079	0.0882	0.0853	0.0079	0	0.0029	0.0114	0.0673	0	0	0.0009	0.0040	0.0956	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	0.00484165	0.81001	P	.	.	.	.	.	.	.	.	.	0.291	0.32921	-0.5734	0.65879	T	0.078	0.31224	T	4	0.0029990375	0.00049	T	.	.	.	0.308	0.62947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253381	0.13687	T	-0.130485	0.60930	T	0.0204835161029945	0.00748	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80734	P	.	.	4.631355	0.73641	26.0	0.99160228913287085	0.54071	0.98609	0.84658	D	AEFI	0.891207	0.82696	D	0.481528758558236	0.66012	4.895369	0.539012016460714	0.70635	5.534473	0.999999662943052	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	7.842000	0.85116	.	.	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.053	0.86398	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	4433.43	33	chr7	142082570	.	G	A	4433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.598;DP=912;ExcessHet=0;FS=4.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.898;SOR=1.018	GT:AD:DP:GQ:PL	0/1:222,185:407:99:4445,0,5557	9	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,18:71:99:0|1:143478290_A_G:257,0,1822:143478290	4	0	6	0
chr7	143703480	143703480	C	G	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001363538:exon2:c.C486G:p.H162Q,TCAF2:NM_173678:exon2:c.C486G:p.H162Q	.	850	669	2	1	0	4	0.00298063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0116016243343	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772650343	0.0002	0.0042	0.0002	0.0002	0.0008	0.0002	0.0001	0.0004	0.0003	0	0.0006	0.0010	0	4.898e-05	0	0.0002	0	0.0008	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.33418	T	0.037	0.52727	D	0.896	0.49324	P	0.48	0.47081	P	0.002400	0.36650	N	0.291193	1	0.08975	N	.	.	.	1.78	0.25678	T	-4.5	0.78135	D	0.267	0.37301	-1.0426	0.16532	T	0.069	0.28247	T	10	0.1349613	0.25684	T	0.011602	0.29387	T	0.055	0.15663	0.445	0.50302	0.0138822411134	0.00435	0.556508241840187	0.55577	.	.	0.585825324059	0.50907	T	0.181979	0.53384	T	-0.457891	0.01013	T	-0.605362	0.12365	T	0.200157186870678	0.20425	T	0.549745	0.19140	T	0.12086267	0.28432	0.12988277	0.31221	0.12086267	0.28432	0.12988277	0.31220	-7.2	0.55725	T	.	.	0.187	0.40392	B	.;.;.;.	.;.;.;.	-0.678830	0.01370	0.078	0.92347825096218705	0.21748	0.05489	0.11374	N	AEFI	0.149394	0.27347	N	-0.66467671734687	0.17034	0.8731212	-0.955525500882051	0.10795	0.5460256	7.46953667964004E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.92	-4.14	0.03628	-2.012000	0.01539	-20.000000	0.00162	-1.957000	0.00479	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4136:0.1225:0.4639	6.582	0.21797	761	0.50382	.;.;.;.	.	.	.	.	.	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	0.031353	0.000000	0.052419	0.047170	0.000000	0.062500	0.000000	0.000000	0.2	50.42	.	chr7	143703480	.	C	G	50.42	.	AC=2;AF=0.2;AN=10;DP=30;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=25;QD=25.21;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0	4	1	0	5
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:169,54:223:99:701,0,5338	4	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2	150.59	48	chr7	152235831	.	C	G	150.59	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.331;DP=743;ExcessHet=1.5895;FS=9.184;InbreedingCoeff=-0.2504;MLEAC=4;MLEAF=0.2;MQ=51.86;MQRankSum=-2.17;QD=0.55;ReadPosRankSum=-0.963;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:70:0|1:152235823_T_C:70,0,2290:152235823	6	0	4	0
chr7	152265209	152265209	G	A	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.C1013T:p.S338L	.	421	1031	70	0	0	70	0.032833	0.0269	0.306	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	0.0013	0.0050	0.0003	0.0002	0.0002	0.0009	0	0.0024	3.84e-05	1	26028	rs763762478	2.038e-05	0.0079	2.235e-05	1.838e-05	9.681e-05	1.43e-05	1.236e-05	3.144e-05	2.135e-05	9.681e-05	6.956e-05	7.854e-05	0	1.934e-05	0	1.103e-05	3.412e-05	7.373e-05	2.013e-05	0.0049	1.309e-05	2.752e-05	0.0002	5.35e-06	2.48e-06	.	.	2.503e-05	0	0	0	0	0	0	1.49e-05	0	0.0002	0.165	0.23271	T	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.002566	0.36316	U	0.000000	0.999109	0.46078	D	1.375	0.34280	L	-5.19	0.98838	D	-2.15	0.49846	N	0.541	0.64733	0.975	0.96781	D	0.935	0.97856	D	10	0.120939314	0.22917	T	0.135747	0.81821	D	0.505	0.78662	.	.	0.780251043478	0.77822	0.8104037300995125	0.80995	2.68827321764	0.98538	0.709780871868	0.68562	T	0.093356	0.39194	T	0.194455	0.73376	D	0.0415453	0.73029	D	0.563259899616241	0.34978	D	0.915408	0.69775	D	0.1218603	0.28647	0.12725215	0.30636	0.1218603	0.28646	0.12725215	0.30635	-8.009	0.61132	D	.	.	0.295	0.52574	B	.;.	.;.	5.197887	0.87191	29.2	0.99103779157527894	0.52546	0.99285	0.93953	D	AEFDGI	0.879208	0.80500	D	0.330948350371497	0.57744	3.942901	0.306496970797665	0.55922	3.754958	0.999408517909567	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	4.65	0.57626	7.653000	0.82698	11.796000	0.96513	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	17.916	0.88868	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004232	0.016393	0.002755	0.000000	0.000000	0.000000	0.011278	0.000000	0.05	157.43	172	chr7	152265209	.	G	A	157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.22;DP=1615;ExcessHet=0;FS=7.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.27;MQRankSum=-4.069;QD=0.75;ReadPosRankSum=-2.855;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,19:211:99:0|1:152265209_G_A:169,0,7864:152265209	9	0	1	0
chr7	152265211	152265211	T	C	splicing	KMT2C	NM_170606:exon8:c.1013-2A>G	.	.	.	421	1032	69	0	0	69	0.0323488	1.0000	0.856	YES	1292103	Kleefstra_syndrome_2|not_provided	MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0003	0.0002	0.0002	0.0008	0	0.0023	3.84e-05	1	26028	rs751158858	1.754e-05	0.0078	1.674e-05	1.836e-05	7.365e-05	1.204e-05	1.018e-05	3.141e-05	2.134e-05	6.35e-05	4.622e-05	7.843e-05	0	0	0	1.011e-05	3.405e-05	7.365e-05	2.673e-05	0.0048	1.305e-05	4.11e-05	0.0004	8.25e-06	5.21e-06	7.479e-05	3.099e-05	2.48e-05	0	0	0	0	0	0	1.488e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101255	0.64428	D	-0.0923307	0.63986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.617057	0.95490	35	0.97620013067163336	0.34960	0.96606	0.69985	D	AEDGI	.	.	.	0.831717572276499	0.88043	9.432911	0.606287934712574	0.75395	6.30307	0.999997611856489	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.066767	0.01867	0	0.074238	0.01845	1	0.850816	0.51753	4.65	4.65	0.57626	7.580000	0.81812	7.866000	0.71703	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.395	0.66573	952	0.10565	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	157.43	172	chr7	152265211	.	T	C	157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.15;DP=1603;ExcessHet=0;FS=7.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.31;MQRankSum=-4.069;QD=0.75;ReadPosRankSum=-2.352;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,19:211:99:0|1:152265209_G_A:169,0,7864:152265209	9	0	1	0
chr7	154968513	154968513	G	A	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.C1688T:p.A563V	.	.	.	.	.	.	.	.	.	.	.	2365153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00861691614564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055680929	5.639e-05	6.509e-05	5.826e-05	5.472e-05	0.0007	4.22e-05	3.705e-05	0.0002	0.0001	5.526e-05	0.0002	4.804e-05	3.069e-05	0	0.0007	4.622e-05	5.768e-05	7.685e-05	9.238e-05	9.211e-05	0.0001	6.755e-05	0.0001	5.55e-05	4.382e-05	6.31e-05	4.318e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.03	0.45393	D	0.658	0.06554	T	0.001	0.07471	B	0.0	0.01387	B	0.681028	0.10258	U	0.816354	0.976436	0.25374	N	1.735	0.44892	L	0.94	0.43672	T	-0.27	0.11366	N	0.077	0.05162	-1.0304	0.20325	T	0.080	0.31824	T	10	0.0493235	0.04506	T	0.008617	0.22779	T	0.044	0.11924	.	.	0.266724437049	0.26276	0.10754359916396601	0.10683	0.146202403952	0.16504	0.316844314337	0.12943	T	0.040896	0.25679	T	-0.516551	0.00461	T	-0.695053	0.06100	T	0.0242716342263634	0.01180	T	0.80472	0.45238	T	0.026561217	0.01729	0.045030825	0.05968	0.026561217	0.01729	0.045030825	0.05967	-3.472	0.16042	T	.	.	0.089	0.12132	B	.;.	.;.	1.462153	0.18848	13.96	0.4550388778087075	0.03576	0.41958	0.26772	N	AEFDBI	0.100629	0.20230	N	-0.823738180079354	0.12704	0.6210081	-0.815458493162267	0.14121	0.7362065	0.958034954853359	0.28339	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.55	3.67	0.41236	0.315000	0.19200	0.593000	0.19842	0.676000	0.76740	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	0.0841:0.0:0.9159:0.0	12.296	0.54170	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000681	0.000000	0.000000	0.003378	0.000000	0.000000	0.000000	0.000000	0.05	2122.43	35	chr7	154968513	.	G	A	2122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.25;DP=499;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.422;SOR=0.618	GT:AD:DP:GQ:PL	0/1:85,88:173:99:2134,0,2066	9	0	1	0
chr8	6514777	6514777	G	A	exonic	ANGPT2	.	nonsynonymous SNV	ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V	.	434	1085	3	0	0	3	0.00138058	0.0020	0.072	.	711600	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.188	.	0.0030	0.00199681	0.0048	0.0004	0.0006	0	0.0038	0.0052	0.0055	0.0121	0.0045795	708	154602	rs145141058	0.0040	0.0040	0.0036	0.0044	0.0126	0.0039	0.0039	0.0120	0.0117	0.0003	0.0006	0.0048	7.558e-05	0.0046	0.0016	0.0037	0.0034	0.0126	0.0027	0.0027	0.0025	0.0030	0.0083	0.0025	0.0024	0.0063	0.0056	0.0007	0	0.0018	0.0035	0	0.0042	0	0.0038	0.0019	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.027	0.19556	B	0.007	0.14941	B	0.000000	0.84330	D	0.049957	1	0.81001	D	-1.05	0.01069	N	-0.17	0.65563	T	1.73	0.00652	N	0.442	0.48134	-0.9230	0.45141	T	0.054	0.22921	T	10	0.012324214	0.00265	T	.	.	.	0.188	0.46444	.	.	0.665734656745	0.66292	0.6904965237364573	0.68989	0.253413253526	0.27906	0.442052185535	0.30858	T	0.093285	0.39180	T	-0.390887	0.02655	T	-0.32387	0.42148	T	0.02123464080639	0.00825	T	0.904909	0.66542	D	0.2685261	0.49924	0.12397222	0.29888	0.2685261	0.49924	0.12397222	0.29887	-4.246	0.27768	T	.	.	0.125	0.33891	B	.;.;.;.	.;.;.;.	2.264771	0.28940	17.96	0.66966079006661661	0.08214	0.97755	0.76898	D	AEFBI	0.911838	0.87165	D	-0.465373785404589	0.23222	1.245512	-0.171558742133226	0.32588	1.855526	0.999224613154397	0.38808	0.706548	0.73137	0	0.601575	0.49859	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.745000	0.74658	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0859:0.0:0.9141:0.0	10.740	0.45346	975	0.05339	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1009.43	41	chr8	6514777	.	G	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.126;DP=440;ExcessHet=0;FS=0.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.806;SOR=0.555	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1021,0,1227	9	0	1	0
chr8	7333620	7333620	C	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1234T:p.H412Y,USP17L1:NM_001256873:exon1:c.C1234T:p.H412Y	.	436	1066	17	3	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0079	0.0035	0.0062	0	0.0054	0.0120	0.0101	0.0035	0.001191	31	26028	rs201302491	0.0058	0.0060	0.0056	0.0059	0.0307	0.0057	0.0056	0.0264	0.0247	0.0025	0.0034	0.0111	5.18e-05	0.0069	0.0307	0.0059	0.0070	0.0041	0.0049	0.0048	0.0052	0.0045	0.0063	0.0046	0.0044	0.0058	0.0056	0.0021	0	0.0035	0.0116	0	0.0044	0.0368	0.0063	0.0074	0.0034	.	.	.	0.436	0.13480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.004554063	0.00094	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.01658367185519768	0.01613	.	.	0.545712947845	0.45253	T	0.023156	0.17727	T	-0.505776	0.00530	T	-0.496121	0.22751	T	.	.	.	0.541546	0.18382	T	0.12105584	0.28473	0.1154537	0.27869	0.12105584	0.28473	0.1154537	0.27869	-4.358	0.28982	T	.	.	0.071	0.04041	B	.	.	0.457832	0.08275	5.021	0.67168932098771628	0.08274	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	1.09537333666636E-6	0.01202	0.074636	0.01641	0	0.063388	0.01293	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0443366	0.03230	.	.	.	0.893000	0.27970	-0.106000	0.11884	0.055000	0.17525	0.008000	0.17931	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1671.43	38	chr8	7333620	.	C	T	1671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=476;ExcessHet=0;FS=8.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.04;MQRankSum=-1.674;QD=13.48;ReadPosRankSum=0.888;SOR=0.674	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1683,0,1507	9	0	1	0
chr8	7358313	7358313	C	G	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G566C:p.R189P	.	510	986	26	0	0	26	0.013013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.000308078436627	0.0002	0.000798722	0.0022	0.0001	0.0007	0.0001	0	0.0017	0	0.0084	0.0017788	275	154602	rs368734373	0.0012	0.0013	0.0009	0.0015	0.0126	0.0012	0.0011	0.0099	0.0089	0.0003	0.0007	0.0137	2.52e-05	0	0.0126	0.0005	0.0022	0.0077	0.0010	0.0011	0.0010	0.0011	0.0057	0.0009	0.0008	0.0040	0.0034	0.0001	0	0.0004	0.0139	0	0	0.0172	0.0009	0.0014	0.0057	0.041	0.41915	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	3.18	0.07478	T	-3.35	0.66436	D	0.267	0.30233	-1.0523	0.13763	T	0.044	0.19029	T	7	0.016572624	0.00350	T	3.08E-4	0.00027	T	0.077	0.22490	.	.	0.194818534648	0.19098	0.0716437379401887	0.07101	8.38689937476E-4	0.00070	0.519137859344	0.41504	T	0.102249	0.40979	T	-0.599116	0.00148	T	-0.62908	0.10484	T	0.0398025031288163	0.03654	T	0.0150385	0.00084	T	0.52510643	0.68552	0.44012263	0.67341	0.52510643	0.68553	0.44012263	0.67341	-8.71	0.65811	D	.	.	0.907	0.83217	P	.	.	2.121769	0.27008	17.32	0.9403768728901275	0.24156	0.00620	0.02740	N	AEFDBI	0.118989	0.23244	N	-0.752658196188609	0.14560	0.7263734	-1.03829226174489	0.08952	0.4427836	1.78956100016098E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.05	0.109	0.13884	-4.227000	0.00308	-20.000000	0.00162	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.774:0.0:0.226	5.282	0.14991	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1755.43	42	chr8	7358313	.	C	G	1755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.996;DP=760;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=1.18;QD=4.69;ReadPosRankSum=0.179;SOR=0.74	GT:AD:DP:GQ:PL	0/1:278,96:374:99:1767,0,7087	9	0	1	0
chr8	8318761	8318761	C	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon6:c.G3614T:p.R1205L,PRAG1:NM_001369759:exon6:c.G3614T:p.R1205L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0016	0.00299521	0.0013	0.0132	0.0013	0	0	9.561e-05	0.0052	0	0.0007244	112	154602	rs200355456	0.0003	0.0003	0.0004	0.0003	0.0087	0.0003	0.0003	0.0078	0.0075	0.0087	0.0008	4.003e-05	5.19e-05	0	0.0030	7.031e-05	0.0010	1.203e-05	0.0023	0.0023	0.0024	0.0022	0.0080	0.0021	0.0020	0.0073	0.0070	0.0080	0.0011	0.0007	0	0	0	0	7.401e-05	0.0019	0	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	0.144945	0.02915	N	1.551570	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.1	0.10056	-1.0350	0.18857	T	0.067	0.27537	T	10	0.003072679	0.00051	T	.	.	.	.	.	.	.	0.165133752707	0.16062	0.3212918260399961	0.32042	.	.	0.479565560818	0.35996	T	0.010385	0.09385	T	-0.546302	0.00307	T	-0.549683	0.17356	T	0.00477903671760561	0.00051	T	0.507849	0.16117	T	0.1760468	0.38497	0.13790537	0.32950	0.1760468	0.38496	0.13790537	0.32949	-5.396	0.40881	T	.	.	0.099	0.18206	B	.;.	.;.	2.165111	0.27584	17.51	0.93627650409773389	0.23499	0.31739	0.24413	N	AEFDBHCI	0.083850	0.16989	N	-0.803739860643708	0.13215	0.6494229	-0.728389511107342	0.16256	0.8590591	0.999999985418597	0.74766	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.48	4.58	0.56077	0.952000	0.28747	1.291000	0.25412	0.433000	0.20966	0.001000	0.13787	0.001000	0.17328	0.475000	0.28453	0.0:0.668:0.1745:0.1575	5.831	0.17837	930	0.16408	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009694	0.031915	0.012363	0.008772	0.000000	0.000000	0.006211	0.003817	0.05	815.43	33	chr8	8318761	.	C	A	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=355;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=-0.709;SOR=1.308	GT:AD:DP:GQ:PL	0/1:17,26:43:99:827,0,367	9	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,65:221:99:0|1:10609943_C_T:1158,0,5318:10609943	2	0	5	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	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	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	G	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,63:220:99:0|1:10609943_C_T:1113,0,5305:10609943	3	0	3	4
chr8	10610079	10610079	-	CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG:p.E1340_G2392delinsGTKTEEGLQEEGVQLEGTKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0048	0.0023	0.0022	0.0047	0.0022	0.0021	0.0032	0.0027	0.0009	0.0019	0.0040	0	0.0042	0.0047	0.0023	0.0038	0.0006	0.0006	0.0011	0.0006	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0004	0.0010	0	0.0010	0	0.0007	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38544.4	386	chr8	10610079	.	T	TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	38544.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=3280;ExcessHet=0.3701;FS=2.475;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-0.199;QD=23.56;ReadPosRankSum=2.69;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,92:303:99:.:.:10379,5554,5308:.	9	0	1	0
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1945.74	348	chr8	12132989	.	C	T	1945.74	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.784;DP=2427;ExcessHet=0;FS=0.448;InbreedingCoeff=-0.0711;MLEAC=1;MLEAF=0.05;MQ=52;MQRankSum=-3.52;QD=6.34;ReadPosRankSum=2.13;SOR=0.748	GT:AD:DP:GQ:PL	0/1:211,96:307:99:1957,0,5798	9	0	1	0
chr8	23007425	23007425	G	A	exonic	RHOBTB2	.	nonsynonymous SNV	RHOBTB2:NM_001160037:exon5:c.G1201A:p.V401M,RHOBTB2:NM_001374791:exon5:c.G1180A:p.V394M,RHOBTB2:NM_015178:exon5:c.G1180A:p.V394M,RHOBTB2:NM_001160036:exon7:c.G1246A:p.V416M	.	435	1078	9	0	0	9	0.00415704	.	.	.	1600843	RHOBTB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	0.0175831749477	0.0004	.	0.0007	0	8.639e-05	0	0	0.0008	0.0011	0.0021	0.000608	94	154602	rs146017675	0.0005	0.0005	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	0	2.236e-05	0.0104	2.519e-05	0	0.0021	0.0001	0.0012	0.0022	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0	0	0.0063	0	0	0.0034	0.0001	0.0019	0.0014	0.184	0.21634	T	0.202	0.27414	T	0.619	0.39896	P	0.675	0.53279	P	0.000405	0.44736	D	0.191733	0.989003	0.40869	D	1.15	0.29295	L	-0.25	0.67011	T	-0.5	0.15782	N	0.276	0.36359	-0.4905	0.68991	T	0.331	0.69826	T	10	0.009938806	0.00223	T	0.017583	0.39335	T	0.199	0.48268	.	.	0.570695249167	0.56736	0.4397869780712526	0.43895	0.557296526033	0.52351	0.65321791172	0.60443	T	0.328183	0.69862	T	-0.352977	0.04543	T	-0.285041	0.46286	T	0.086763589009645	0.10830	T	0.952205	0.81731	D	0.045605917	0.07495	0.07011369	0.14857	0.04551959	0.07464	0.076186895	0.16849	-5.035	0.37218	T	0.1870918858929928	0.24379	0.153	0.33913	B	.;.;.	.;.;.	2.784753	0.36587	20.3	0.99888463966361862	0.96281	0.89568	0.50115	D	AEFDBI	0.363131	0.45214	N	0.258930368910378	0.54083	3.57472	0.306696190387311	0.55931	3.756132	0.999999896177258	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.474000	0.21858	2.135000	0.30806	-0.126000	0.13398	0.142000	0.23535	1.000000	0.68203	0.997000	0.79791	0.0864:0.0:0.9136:0.0	11.855	0.51706	917	0.20147	.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.006098	0.007576	0.05	1218.43	91	chr8	23007425	.	G	A	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.664;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.755;SOR=0.647	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1230,0,1998	9	0	1	0
chr8	25389218	25389218	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon41:c.C4259T:p.S1420L	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00698882	0.0039	0	0.0003	0	0	0.0001	0.0044	0.0278	0.0033893	524	154602	rs538914889	0.0017	0.0017	0.0010	0.0025	0.0277	0.0017	0.0017	0.0268	0.0264	8.961e-05	2.236e-05	0	0	9.363e-05	0.0016	2.788e-05	0.0017	0.0277	0.0010	0.0010	0.0005	0.0015	0.0304	0.0008	0.0008	0.0264	0.0249	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0304	0.058	0.37750	T	0.009	0.66756	D	0.005	0.12996	B	0.006	0.12133	B	0.669527	0.06028	N	1.148490	0.999996	0.08975	N	0.55	0.14455	N	3.77	0.03863	T	-3.32	0.66085	D	0.258	0.29197	-1.0021	0.29313	T	0.024	0.10013	T	10	0.004555881	0.00094	T	.	.	.	0.021	0.04004	.	.	0.148003135375	0.14442	0.16687287872706508	0.16607	0.0505951659452	0.05561	0.286010652781	0.08344	T	0.246798	0.61633	T	-0.57726	0.00200	T	-0.581699	0.14394	T	0.0665124168830825	0.08153	T	0.665133	0.27420	T	0.11612959	0.27394	0.15259407	0.35895	0.11612959	0.27394	0.15259407	0.35894	-6.962	0.53756	T	.	.	0.064	0.01786	B	.	.	1.586886	0.20298	14.68	0.98989223608187826	0.49902	0.11341	0.16569	N	AEFBI	0.114772	0.22594	N	-0.625462872691812	0.18183	0.9419051	-0.696320076719439	0.17053	0.9049724	0.218749099442898	0.18330	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.21	2.39	0.28492	0.040000	0.13791	1.321000	0.25603	0.599000	0.40250	0.000000	0.06391	0.112000	0.22806	0.585000	0.31016	0.264:0.5156:0.1475:0.0728	4.614	0.11805	472	0.77968	Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	753.43	33	chr8	25389218	.	C	T	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=395;ExcessHet=0;FS=8.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=2.15;SOR=0.22	GT:AD:DP:GQ:PL	0/1:47,32:79:99:765,0,1106	9	0	1	0
chr8	26748708	26748709	AT	-	exonic	ADRA1A	.	frameshift deletion	ADRA1A:NM_001322503:exon2:c.923_924del:p.H308Rfs*56,ADRA1A:NM_033303:exon3:c.1309_1310del:p.M437Dfs*63	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.52e-06	1.59e-06	1.088e-05	0	7.905e-06	0	0	.	.	0	0	0	0	0	0	7.905e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.43	2	chr8	26748707	.	CAT	C	64.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:26748707_CAT_C:72,0,162:26748707	6	0	1	3
chr8	26748710	26748710	-	CA	exonic	ADRA1A	.	frameshift insertion	ADRA1A:NM_001322503:exon2:c.921_922insTG:p.H308Cfs*41,ADRA1A:NM_033303:exon3:c.1307_1308insTG:p.M437Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.509e-06	1.59e-06	1.085e-05	0	7.868e-06	0	0	.	.	0	0	0	0	0	0	7.868e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	63.68	2	chr8	26748710	.	G	GCA	63.68	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:26748707_CAT_C:72,0,162:26748707	7	0	1	2
chr8	26748717	26748717	C	G	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_033303:exon3:c.G1301C:p.C434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00197675382382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.728980	0.09871	U	0.840223	1	0.08975	N	.	.	.	2.06	0.20523	T	0.09	0.05917	N	0.301	0.34012	-1.0266	0.21560	T	0.137	0.45394	T	9	0.21906385	0.38565	T	0.001977	0.03562	T	0.046	0.12618	0.409	0.44395	0.399449838166	0.39556	0.23749853786041586	0.23664	0.502847730208	0.48636	.	.	.	.	.	.	-0.31238	0.07540	T	-0.686489	0.06595	T	0.490291565656662	0.32275	T	0.674133	0.28269	T	.	.	.	.	.	.	.	.	-1.705	0.02242	T	.	.	0.123	0.25624	B	.	.	1.512122	0.19427	14.26	0.57861550352353275	0.05863	0.02203	0.06427	N	AEFI	0.031700	0.03440	N	-0.285243943381978	0.29718	1.650495	-0.637772627421611	0.18526	0.9900486	1.37635107782196E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.487	0.487	0.16050	0.794000	0.26619	0.416000	0.18166	0.236000	0.18198	0.004000	0.16614	0.003000	0.18671	0.007000	0.07825	.	.	.	826	0.39940	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	64.57	2	chr8	26748717	.	C	G	64.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:26748707_CAT_C:72,0,162:26748707	6	0	1	3
chr8	26748718	26748718	A	C	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_001322503:exon2:c.T914G:p.V305G,ADRA1A:NM_033303:exon3:c.T1300G:p.C434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00235628752187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.728980	0.09871	U	0.840223	1	0.08975	N	.	.	.	2.01	0.21291	T	-0.27	0.11366	N	0.321	0.36148	-0.8664	0.50798	T	0.199	0.55513	T	9	0.15756199	0.29649	T	0.002356	0.04562	T	0.049	0.13647	0.388	0.40951	0.208816687407	0.20498	0.26738193052441506	0.26651	0.69644798922	0.60850	.	.	.	.	.	.	-0.269967	0.11761	T	-0.625565	0.10753	T	0.7047438621521	0.40945	D	0.60444	0.22695	T	.	.	.	.	.	.	.	.	-2.104	0.03601	T	.	.	0.082	0.08899	B	.	.	1.794595	0.22813	15.77	0.60114856155333707	0.06385	0.02771	0.07470	N	AEFI	0.049250	0.08489	N	-0.915358500522752	0.10482	0.5011317	-1.09292542630594	0.07838	0.3829099	1.32337960159583E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.487	0.487	0.16050	0.914000	0.28246	-0.094000	0.12022	0.289000	0.18753	0.003000	0.16062	0.000000	0.08366	0.006000	0.07323	.	.	.	826	0.39940	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	64.49	2	chr8	26748718	.	A	C	64.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:26748707_CAT_C:72,0,162:26748707	6	0	1	3
chr8	26748727	26748727	-	G	exonic	ADRA1A	.	frameshift insertion	ADRA1A:NM_001322503:exon2:c.904dupC:p.Q302Pfs*8,ADRA1A:NM_033303:exon3:c.1290dupC:p.R431Qfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491e-06	6.361e-06	0	7.672e-06	2.183e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.183e-05	0	1.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.43	2	chr8	26748727	.	T	TG	64.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:26748707_CAT_C:72,0,162:26748707	6	0	1	3
chr8	27752572	27752572	C	G	exonic	CCDC25	.	nonsynonymous SNV	CCDC25:NM_001304529:exon5:c.G184C:p.D62H,CCDC25:NM_018246:exon5:c.G184C:p.D62H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.038608744221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.547e-05	0.0001	2.33e-05	2.766e-05	9.022e-05	1.879e-05	1.641e-05	2.391e-05	1.795e-05	9.022e-05	0	3.837e-05	0	0	0	2.899e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	.	.	.	-5.63	0.86836	D	0.853	0.84922	0.028	0.82819	D	0.473	0.79732	T	9	0.8197929	0.81191	D	0.038609	0.58323	D	0.614	0.84932	0.55	0.66576	0.460795861206	0.45704	0.7015162019112378	0.70092	1.51491552847	0.87300	0.722615897655	0.70428	T	0.129824	0.45833	T	0.270073	0.80448	D	0.150165	0.80195	D	0.997151553630829	0.90894	D	0.961604	0.88140	D	0.72886264	0.79660	0.68237287	0.81331	0.72886264	0.79661	0.68237287	0.81332	-10.727	0.78140	D	.	.	0.318	0.54390	B	.;.	.;.	5.579871	0.92292	32	0.9959362337452432	0.73748	0.98767	0.86589	D	AEFGBI	0.922896	0.89857	D	0.859233201530184	0.89628	10.05	0.816114730825622	0.90890	10.61762	0.999999999304192	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.462000	0.79890	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.507	0.84122	793	0.45818	Domain of unknown function DUF814;Domain of unknown function DUF814	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	65.44	98	chr8	27752572	.	C	G	65.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.385;DP=702;ExcessHet=0;FS=371.077;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.91;SOR=8.713	GT:AD:DP:GQ:PL	0/1:81,30:127:77:77,0,1372	9	0	1	0
chr8	28812371	28812371	C	G	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon7:c.G637C:p.V213L,INTS9:NM_001172562:exon8:c.G628C:p.V210L,INTS9:NM_001363038:exon8:c.G700C:p.V234L,INTS9:NM_018250:exon8:c.G700C:p.V234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0113803328716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.149	0.32891	T	0.046	0.21875	B	0.034	0.22546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.97	0.24054	L	0.74	0.50721	T	-1.43	0.35194	N	0.854	0.85027	-1.0240	0.22410	T	0.139	0.45734	T	10	0.60907257	0.67341	D	0.01138	0.28946	T	0.196	0.47777	0.484	0.56621	0.54665026281	0.54320	0.6098900044130657	0.60920	0.54724789338	0.51696	0.771286189556	0.77617	T	0.07447	0.34946	T	0.115373	0.65904	D	-0.0720512	0.65480	T	0.659233002662646	0.38862	D	0.950905	0.81262	D	0.34427643	0.56617	0.30897677	0.56914	0.34427643	0.56617	0.30897677	0.56913	-6.466	0.50023	T	.	.	0.467	0.64362	A	.;.;.	.;.;.	3.239572	0.44214	21.9	0.99673989217237957	0.78782	0.98931	0.88793	D	AEFBI	0.914418	0.87776	D	0.16512420919917	0.49530	3.152377	0.357322750584708	0.58950	4.068954	0.999999999999777	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	7.905000	0.86479	4.889000	0.45745	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	20.274	0.98485	460	0.78750	Metallo-beta-lactamase;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	448.43	33	chr8	28812371	.	C	G	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.151;DP=363;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-2.203;SOR=0.856	GT:AD:DP:GQ:PL	0/1:34,21:55:99:460,0,825	9	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	243.53	33	chr8	39963621	.	A	G	243.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.434;DP=958;ExcessHet=1.5895;FS=106.457;InbreedingCoeff=-0.2469;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.423;SOR=10.175	GT:AD:DP:GQ:PL	0/1:132,33:165:14:14,0,2489	6	0	4	0
chr8	53851990	53851990	G	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon1:c.G91A:p.A31T,RGS20:NM_170587:exon1:c.G91A:p.A31T	.	432	1058	31	1	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0007	0.00359425	0.0029	0.0002	0.0003	0	0	0.0009	0.0044	0.0170	0.0025355	392	154602	rs144848624	0.0014	0.0014	0.0010	0.0019	0.0174	0.0014	0.0014	0.0167	0.0164	5.974e-05	0.0006	0.0070	0	1.872e-05	0.0050	0.0002	0.0022	0.0174	0.0009	0.0009	0.0006	0.0012	0.0170	0.0008	0.0007	0.0140	0.0129	4.811e-05	0	6.533e-05	0.0081	0.0002	0	0	0.0003	0.0014	0.0170	0.203	0.20154	T	0.329	0.18617	T	0.001	0.07471	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.61	0.59176	T	-0.44	0.14588	N	0.061	0.06322	-1.0203	0.23616	T	0.109	0.39415	T	9	0.0029816628	0.00048	T	.	.	.	0.022	0.04323	.	.	0.558657003308	0.55527	0.12062619207238452	0.11989	0.452195566295	0.44952	0.300274133682	0.10441	T	0.196982	0.55352	T	-0.592168	0.00163	T	-0.609105	0.12057	T	0.00151624402747936	0.00015	T	0.524848	0.18126	T	0.025091404	0.01409	0.04955465	0.07596	0.025091404	0.01409	0.04955465	0.07596	-3.278	0.13455	T	.	.	0.078	0.09385	B	.;.	.;.	0.272523	0.06499	2.980	0.8574158757909941	0.16083	0.05806	0.11743	N	AEFBCI	0.038940	0.05584	N	-1.09893680717567	0.06664	0.3073789	-1.1107384537359	0.07494	0.364749	0.99963125534603	0.41205	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.84	1.04	0.19220	-0.114000	0.10729	-0.529000	0.08646	-0.113000	0.14837	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.3869:0.0:0.6131:0.0	6.703	0.22423	785	0.46916	.;.	.	.	.	.	.	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	0.000000	0.002924	0.000000	0.025862	0.009146	0.011364	0.05	858.43	34	chr8	53851990	.	G	A	858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.008;DP=374;ExcessHet=0;FS=0.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.832;SOR=0.936	GT:AD:DP:GQ:PL	0/1:30,37:67:99:870,0,659	9	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	145.15	38	chr8	72568126	.	T	C	145.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.203;DP=622;ExcessHet=0.2348;FS=102.733;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.108;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,15:93:99:0|1:72568124_G_A:107,0,2683:72568124	8	0	2	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	146.39	79	chr8	73292778	.	GAACC	G	146.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.61;DP=724;ExcessHet=0;FS=39.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.98;SOR=4.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,9:61:99:0|1:73292778_GAACC_G:158,0,2065:73292778	9	0	1	0
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	150.71	68	chr8	73292782	.	C	CGGGG	150.71	.	AC=1;AF=0.063;AN=16;DP=627;ExcessHet=0;FS=38.595;InbreedingCoeff=-0.1127;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=2.01;SOR=4.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,9:60:99:0|1:73292778_GAACC_G:161,0,2031:73292778	7	0	1	2
chr8	76853062	76853062	-	CCT	exonic	ZFHX4	.	nonframeshift insertion	ZFHX4:NM_024721:exon10:c.6141_6142insCCT:p.P2061_S2062insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	1.29e-05	2	154602	rs767837573	0.0002	0.0003	0.0002	0.0002	0.0020	0.0002	0.0002	0.0007	0.0004	7.413e-05	0.0002	0	0.0001	3.542e-05	0.0020	0.0003	0.0003	0.0002	0.0003	0.0008	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0004	0	0.0002	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2845.12	36	chr8	76853062	.	A	ACCT	2845.12	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=460;ExcessHet=0.7463;FS=6.403;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.428;SOR=1.134	GT:AD:DP:GQ:PL	0/1:27,13:40:99:398,0,1015	9	0	1	0
chr8	109408168	109408168	G	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon18:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	4044989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.0191255300705	0.0002	0.000199681	0.0002	0.0013	0	0.0001	0	1.5e-05	0	0.0007	0.0001746	27	154602	rs202007554	5.34e-05	5.678e-05	5.586e-05	5.092e-05	0.0009	4.347e-05	4.021e-05	0.0006	0.0005	0.0009	2.237e-05	0	5.044e-05	1.875e-05	0.0002	1.8e-06	6.63e-05	0.0004	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.545e-05	0	0	0	0	0	0	0.0006	0.599	0.05652	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.914037	0.07433	N	1.048310	1	0.08975	N	0.85	0.21244	L	-1.95	0.85003	D	0.17	0.05125	N	0.034	0.00942	-0.8606	0.51220	T	0.204	0.56224	T	10	0.0120951235	0.00261	T	0.019126	0.41408	T	0.115	0.32236	.	.	0.0297737177859	0.01360	0.24039264469219024	0.23953	0.0291571377522	0.03001	0.225090131164	0.01625	T	0.006996	0.06422	T	-0.545274	0.00311	T	-0.606465	0.12273	T	0.00159410648785161	0.00016	T	0.248975	0.03721	T	0.030592117	0.02750	0.048436698	0.07194	0.030592117	0.02750	0.048436698	0.07193	-2.031	0.03300	T	.	.	0.068	0.02927	B	.	.	-0.688263	0.01347	0.075	0.71640477623179288	0.09698	0.01200	0.04279	N	AEFI	0.031246	0.03299	N	-1.646298428926	0.01051	0.04558787	-1.62122403226446	0.01531	0.06936228	7.02931935513298E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.97	-4.04	0.03741	-1.140000	0.03321	-1.673000	0.04942	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.297:0.1014:0.133:0.4686	1.528	0.02376	697	0.58201	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	916.43	74	chr8	109408168	.	G	A	916.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.875;DP=623;ExcessHet=0;FS=1.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.096;SOR=0.867	GT:AD:DP:GQ:PL	0/1:57,44:101:99:928,0,1345	9	0	1	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F,CSMD3:NM_052900:exon43:c.A6584T:p.Y2195F,CSMD3:NM_198123:exon44:c.A6896T:p.Y2299F,CSMD3:NM_198124:exon45:c.A6776T:p.Y2259F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	893.43	41	chr8	112336775	.	T	A	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.558;DP=397;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.886;SOR=0.341	GT:AD:DP:GQ:PL	0/1:39,38:77:99:905,0,917	9	0	1	0
chr8	123082758	123082758	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001145088:exon3:c.G281A:p.R94H,TBC1D31:NM_001363148:exon3:c.G281A:p.R94H,TBC1D31:NM_001363149:exon3:c.G251A:p.R84H,TBC1D31:NM_001363150:exon3:c.G281A:p.R94H,TBC1D31:NM_001363151:exon3:c.G281A:p.R94H,TBC1D31:NM_001363153:exon3:c.G281A:p.R94H,TBC1D31:NM_145647:exon3:c.G281A:p.R94H	.	437	1077	7	1	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.015577422867	0.0015	0.00239617	0.0024	0.0008	0.0013	0	0.0062	0.0031	0	0.0014	0.0023868	369	154602	rs117552523	0.0027	0.0027	0.0027	0.0028	0.0064	0.0026	0.0026	0.0048	0.0042	0.0005	0.0019	0.0001	0	0.0066	0.0064	0.0029	0.0024	0.0011	0.0025	0.0025	0.0022	0.0028	0.0033	0.0023	0.0022	0.0030	0.0028	0.0008	0	0.0025	0.0009	0	0.0062	0.0068	0.0033	0.0038	0.0008	0.194	0.24277	T	0.304	0.22561	T	0.015	0.17086	B	0.004	0.10090	B	0.022274	0.26667	N	0.446219	0.898412	0.36113	D	1.355	0.33814	L	-0.28	0.70480	T	-1.8	0.47344	N	0.205	0.26717	-0.9579	0.39571	T	0.145	0.46895	T	10	0.008959055	0.00203	T	0.015577	0.36391	T	0.082	0.23913	.	.	0.312608672186	0.30878	0.2283801300167431	0.22753	0.0879987765366	0.09938	0.233587712049	0.02244	T	0.006688	0.22922	T	-0.400581	0.02295	T	-0.351862	0.38993	T	0.00803027947544966	0.00095	T	0.876412	0.58869	D	0.049620923	0.08839	0.04609817	0.06349	0.049620923	0.08839	0.04609817	0.06348	-5.036	0.40121	T	.	.	0.072	0.11941	B	.;.;.	.;.;.	1.500614	0.19289	14.19	0.93647671757815787	0.23529	0.25624	0.22754	N	AEFGBI	0.099915	0.20102	N	-0.884225885550762	0.11217	0.5401324	-0.845670000829821	0.13391	0.6944632	0.417341655625476	0.20262	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.7	-2.69	0.05668	0.961000	0.28864	0.182000	0.15643	-0.162000	0.11565	0.444000	0.26519	0.001000	0.17328	0.997000	0.79791	0.5206:0.0:0.4794:0.0	13.156	0.58940	936	0.14734	.;.;.	.	.	.	.	.	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	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.018293	0.000000	0.1	1735.14	34	chr8	123082758	.	G	A	1735.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.69;DP=413;ExcessHet=0.2348;FS=1.36;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.195;SOR=0.869	GT:AD:DP:GQ:PL	0/1:29,29:58:99:715,0,614	8	0	2	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.05	794.43	34	chr8	124010665	.	C	T	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.637;DP=372;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.169;SOR=0.551	GT:AD:DP:GQ:PL	0/1:29,33:62:99:806,0,712	9	0	1	0
chr8	133256769	133256769	C	A	exonic	NDRG1	.	nonsynonymous SNV	NDRG1:NM_001374844:exon8:c.G545T:p.W182L	Charcot-Marie-Tooth disease, type 4D, Autosomal recessive	0	225	1	0	0	1	0.00221729	0.0001	0	.	1075015	Charcot-Marie-Tooth_disease_type_4	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	7.647e-05	0	0	0	0	1.536e-05	0	0.0005	6.47e-05	10	154602	rs537844639	3.079e-05	3.215e-05	1.497e-05	4.676e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.968e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05	545.43	35	chr8	133256769	.	C	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.248;DP=381;ExcessHet=0;FS=3.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.728;SOR=1.204	GT:AD:DP:GQ:PL	0/1:41,24:65:99:557,0,1043	9	0	1	0
chr8	141494884	141494884	C	T	exonic	MROH5	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs537492586	3.148e-05	3.147e-05	2.996e-05	3.302e-05	0.0011	2.413e-05	2.159e-05	0.0008	0.0007	0	0	0	0.0011	0	0	2.699e-06	1.657e-05	0	2.626e-05	2.625e-05	2.569e-05	2.686e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	34	chr8	141494884	.	C	T	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.483;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.789;SOR=0.681	GT:AD:DP:GQ:PL	0/1:60,42:102:99:964,0,1483	9	0	1	0
chr8	143923465	143923465	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6422T:p.A2141V,PLEC:NM_201379:exon31:c.C6398T:p.A2133V,PLEC:NM_201380:exon31:c.C6875T:p.A2292V,PLEC:NM_201381:exon31:c.C6368T:p.A2123V,PLEC:NM_201382:exon31:c.C6464T:p.A2155V,PLEC:NM_201383:exon31:c.C6476T:p.A2159V,PLEC:NM_201384:exon31:c.C6464T:p.A2155V,PLEC:NM_000445:exon32:c.C6545T:p.A2182V	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	425783	Inborn_genetic_diseases|not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.359	0.212209505945	0.0002	0.000199681	0.0003	0	0.0002	0.0001	0.0002	0.0003	0	0.0008	0.0002329	36	154602	rs201922111	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0007	0	0.0001	0	7.568e-05	2.143e-05	0.0003	0.0002	0.0001	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.512e-05	5.323e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	0.0001	0.0005	0.0008	0.006	0.63226	D	0.212	0.30828	T	0.995	0.67487	D	0.607	0.51000	P	0.008098	0.31024	U	0.191212	0.999902	0.50806	D	2.085	0.57729	M	-1.16	0.78427	T	-1.15	0.29933	N	0.353	0.44474	0.055	0.83340	D	0.489	0.80555	T	10	0.10185927	0.18635	T	0.21221	0.87344	D	0.359	0.67962	.	.	0.807009537531	0.80520	0.3950779651247451	0.39422	.	.	0.61456143856	0.54960	T	0.076119	0.35342	T	-0.202928	0.20384	T	-0.160519	0.58306	T	0.0775820159029137	0.09675	T	0.90121	0.65680	D	0.09994512	0.23592	0.15569592	0.36485	0.09994512	0.23592	0.15569592	0.36484	-5.874	0.46381	T	0.6888987233967939	0.76633	0.122	0.27039	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.843219	0.55623	23.6	0.97553973516273185	0.34582	0.93936	0.59622	D	AEFDBCI	0.596250	0.59049	D	0.495979261390396	0.66854	5.004434	0.484759286236825	0.66979	5.023174	0.999999999918634	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	3.895000	0.55971	.	.	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	17.835	0.88605	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.05	1986.43	108	chr8	143923465	.	G	A	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.023;DP=730;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=1.82;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,55:113:99:0|1:143923465_G_A:1998,0,1989:143923465	9	0	1	0
chr8	144085719	144085719	C	T	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon11:c.C1598T:p.A533V	.	420	1101	1	0	0	1	0.000453926	.	.	.	1364741	Inborn_genetic_diseases|Glycosylphosphatidylinositol_biosynthesis_defect_15|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0060627,MedGen:C4540520,OMIM:617810,Orphanet:529665|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00281287235536	7.9e-05	0.000599042	0.0003	0	0	0	0	0.0002	0	0.0010	0.0002393	37	154602	rs200059746	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	2.987e-05	8.944e-05	0	7.557e-05	0	0.0019	8.723e-05	0.0002	0.0010	9.192e-05	9.186e-05	0.0001	5.371e-05	0.0004	5.523e-05	4.361e-05	9.05e-05	7.013e-05	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.011	0.15521	B	0.000335	0.45700	N	0.184288	0.981288	0.40923	D	0.875	0.21512	L	.	.	.	0.73	0.02068	N	0.259	0.29313	-1.0602	0.11706	T	0.102	0.37618	T	9	0.014271408	0.00300	T	0.002813	0.05869	T	0.039	0.10176	.	.	0.110078149338	0.10416	0.3200795618761911	0.31920	0.315891958324	0.33863	0.380843341351	0.22375	T	0.00891	0.08144	T	-0.507461	0.00519	T	-0.566464	0.15774	T	0.00634802052111484	0.00070	T	0.649735	0.26051	T	0.019581972	0.00492	0.047168788	0.06737	0.019581972	0.00491	0.047168788	0.06736	-3.931	0.29612	T	0.3074077714813498	0.40514	0.083	0.26106	B	.;.	.;.	0.966592	0.13432	9.942	0.13605475053740501	0.00274	0.91207	0.53070	D	AEFGBI	0.278261	0.39258	N	-0.908914335162708	0.10632	0.5090314	-0.852442998187837	0.13229	0.6851144	0.999971984456014	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.86	2.13	0.26445	1.249000	0.32441	0.739000	0.21146	-0.173000	0.11020	0.632000	0.28016	0.213000	0.23658	0.001000	0.02609	0.0:0.7388:0.0:0.2612	8.329	0.31334	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1631.43	36	chr8	144085719	.	C	T	1631.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=468;ExcessHet=0;FS=7.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.761;SOR=0.891	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1643,0,1073	9	0	1	0
chr8	144112254	144112254	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon14:c.C2926G:p.L976V	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.501040461613	.	0.000798722	0.0020	0	0	0	0	0.0059	0	0.0004	0.0002975	46	154602	rs141421747	0.0009	0.0008	0.0010	0.0009	0.0228	0.0009	0.0008	0.0191	0.0177	0.0003	0.0007	0.0101	0	2.991e-05	0.0228	0.0004	0.0016	0.0003	0.0007	0.0007	0.0008	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0.0002	0	0.0008	0.0150	0	0	0.0068	0.0005	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	-0.56	0.71187	T	-0.48	0.15379	N	0.217	0.24260	-0.7293	0.58999	T	0.288	0.66007	T	6	0.008880794	0.00201	T	0.50104	0.95152	D	0.067	0.19503	.	.	0.280181792013	0.27631	0.22345629664438724	0.22260	.	.	.	.	.	0.018635	0.14986	T	-0.305125	0.08186	T	-0.322034	0.42350	T	0.10232158726604	0.12611	T	0.541746	0.18406	T	0.09086301	0.21275	0.14674753	0.34755	0.09086301	0.21274	0.14674753	0.34754	-4.721	0.33657	T	.	.	0.157	0.34689	B	.	.	1.863174	0.23667	16.11	0.98760119055797535	0.45800	0.19487	0.20680	N	AEFDGBI	0.110040	0.21835	N	-0.594174907770862	0.19120	0.9982414	-0.692640179703792	0.17144	0.9102916	0.991493738051271	0.32508	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.6	1.83	0.24279	-0.198000	0.09506	0.664000	0.20530	-0.257000	0.07002	0.000000	0.06391	0.203000	0.23585	0.001000	0.02609	0.0:0.683:0.0:0.317	6.062	0.19068	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	833.43	36	chr8	144112254	.	C	G	833.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.986;DP=385;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.472;SOR=1.143	GT:AD:DP:GQ:PL	0/1:38,32:70:99:845,0,959	9	0	1	0
chr8	144314036	144314036	A	G	exonic	HSF1	.	nonsynonymous SNV	HSF1:NM_005526:exon12:c.A1366G:p.N456D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0122130720883	7.7e-05	0.000599042	6.845e-05	0.0007	8.832e-05	0	0	0	0	0	7.12e-05	11	154602	rs201606037	2.329e-05	2.326e-05	2.59e-05	2.065e-05	0.0007	1.676e-05	1.479e-05	0.0005	0.0004	0.0007	4.474e-05	0	0	0	0.0002	0	0.0001	0	0.0001	0.0002	0.0001	0.0002	0.0005	8.899e-05	7.446e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.243	0.17526	T	0.105	0.38016	T	0.003	0.11197	B	0.021	0.19346	B	0.794884	0.09368	N	0.903470	0.959205	0.26195	N	1.245	0.31408	L	.	.	.	-0.99	0.26200	N	0.136	0.16028	-1.0093	0.27136	T	0.063	0.26065	T	9	0.0134727955	0.00286	T	0.012213	0.30578	T	0.017	0.02790	.	.	0.381939241115	0.37810	0.0667948740794511	0.06617	0.047038309093	0.05119	0.583990693092	0.50648	T	0.021361	0.40517	T	-0.503078	0.00549	T	-0.578445	0.14684	T	0.0186497860394193	0.00579	T	.	.	.	0.08968864	0.20964	0.16436549	0.38079	0.08968864	0.20964	0.16436549	0.38078	-2.73	0.07558	T	.	.	0.101	0.17360	B	.;.	.;.	1.545729	0.19817	14.45	0.76877087679753742	0.11645	0.21890	0.21560	N	AEFDGBHCI	0.062062	0.11907	N	-0.794443095766378	0.13453	0.6628905	-0.720572800647947	0.16449	0.8702072	0.999999999999326	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.645665	0.59343	0	.	.	4.04	2.82	0.32061	0.574000	0.23416	2.675000	0.33975	0.743000	0.86499	0.113000	0.23048	0.945000	0.28875	0.742000	0.35507	0.8085:0.1915:0.0:0.0	8.762	0.33840	940	0.13648	.;Vertebrate heat shock transcription factor, C-terminal 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	.	.	.	.	.	.	.	.	0.05	598.43	33	chr8	144314036	.	A	G	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.39;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.54;SOR=0.773	GT:AD:DP:GQ:PL	0/1:38,26:64:99:610,0,950	9	0	1	0
chr8	144358204	144358204	T	C	exonic	FBXL6	.	nonsynonymous SNV	FBXL6:NM_012162:exon1:c.A244G:p.K82E,FBXL6:NM_024555:exon1:c.A244G:p.K82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00967724603715	.	0.00139776	0	0	0	0	0	0	0	0	4.53e-05	7	154602	rs528243989	7.818e-05	7.114e-05	7.726e-05	7.919e-05	0.0036	6.465e-05	5.956e-05	0.0022	0.0018	0.0022	0	0	0	0	0.0036	3.246e-06	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.589e-05	0	0	0	0	0	0.0005	0	0.504	0.07645	T	0.103	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.0	0.21473	T	-0.82	0.22508	N	0.068	0.04426	-0.9638	0.38448	T	0.020	0.08266	T	9	0.004159689	0.00082	T	0.009677	0.25290	T	0.020	0.03691	0.348	0.34436	0.154104182512	0.14974	0.20738286915812407	0.20654	0.991916828905	0.74105	0.794398665428	0.81111	T	.	.	.	-0.576642	0.00202	T	-0.665837	0.07878	T	0.00591627465073011	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.28807	B	.;.	.;.	0.731114	0.11002	7.663	0.62999774059893854	0.07108	0.00643	0.02809	N	ALL	0.052560	0.09393	N	-1.28721953977568	0.03828	0.1717254	-1.30491587316791	0.04366	0.2057878	0.999999992885979	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.249971	0.05119	0	.	.	3.77	-0.929	0.09913	-0.236000	0.09019	0.087000	0.14465	0.637000	0.52028	0.018000	0.19461	0.023000	0.20922	0.069000	0.16583	0.0:0.1818:0.4327:0.3855	3.547	0.07387	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001750	0.000000	0.001832	0.006369	0.000000	0.000000	0.000000	0.000000	0.05	542.43	36	chr8	144358204	.	T	C	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.804;DP=346;ExcessHet=0;FS=1.368;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.959;SOR=0.455	GT:AD:DP:GQ:PL	0/1:17,23:40:99:554,0,447	9	0	1	0
chr8	144409082	144409082	C	T	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon2:c.G77A:p.S26N	.	.	.	.	.	.	.	.	.	.	.	3651260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00839843074661	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375744067	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0003	7.09e-06	5.79e-06	0.0001	0.0001	0.0003	0	0	0	0	0.0002	0	6.625e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.045927	0.23488	N	0.427306	0.981194	0.25057	N	0.625	0.15840	N	.	.	.	.	.	.	0.183	0.19861	-1.0631	0.10997	T	0.072	0.29291	T	10	0.10300043	0.18909	T	0.008398	0.22231	T	.	.	0.362	0.36711	0.572930072401	0.56960	0.1384198834127697	0.13764	.	.	0.75037753582	0.74502	T	0.045617	0.27178	T	-0.207502	0.19734	T	-0.535839	0.18707	T	0.344617873430252	0.26807	T	.	.	.	0.23305754	0.46104	0.25297877	0.50937	0.23305754	0.46104	0.25297877	0.50936	-3.089	0.11170	T	.	.	0.095	0.14933	B	.;.	.;.	2.478208	0.31950	18.90	0.95441684923913417	0.26948	0.31068	0.24244	N	ALL	0.092896	0.18801	N	-0.226666685649934	0.32042	1.802958	-0.03491002177762	0.38149	2.243565	0.99999999992452	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.18	4.29	0.50359	1.525000	0.35560	1.720000	0.28254	0.577000	0.29297	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.6558:0.3442:0.0	11.008	0.46862	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2398.43	51	chr8	144409082	.	C	T	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=629;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.659;SOR=0.873	GT:AD:DP:GQ:PL	0/1:111,108:219:99:2410,0,2512	9	0	1	0
chr8	144473381	144473381	C	T	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.C2368T:p.P790S	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	.	3.476e-05	0	0	0	0	6.93e-05	0	0	6.5e-06	1	154602	rs754575603	5.474e-05	5.814e-05	5.431e-05	5.517e-05	6.92e-05	4.456e-05	4.121e-05	5.667e-05	5.173e-05	0	0	0	0	0	0	6.92e-05	1.69e-05	1.22e-05	3.286e-05	3.283e-05	5.137e-05	1.346e-05	7.35e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10795486	0.20075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01934	B	.	.	2.743638	0.35944	20.1	0.96185135912251263	0.28972	0.12387	0.17237	N	AEFDBCI	0.010935	0.00087	N	-0.557940700743937	0.20236	1.065247	-0.723984665413136	0.16364	0.8653238	0.999969472676379	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.600526	0.37237	0	.	.	3.48	1.64	0.22949	-0.675000	0.05327	2.268000	0.31810	0.549000	0.26987	0.000000	0.06391	0.288000	0.24148	0.073000	0.16832	0.0:0.7137:0.1799:0.1064	6.809	0.22978	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1619.43	33	chr8	144473381	.	C	T	1619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.985;DP=427;ExcessHet=0;FS=5.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.3;SOR=0.341	GT:AD:DP:GQ:PL	0/1:41,63:104:99:1631,0,954	9	0	1	0
chr8	144500889	144500889	C	A	exonic	PPP1R16A	.	nonsynonymous SNV	PPP1R16A:NM_001329443:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329444:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329445:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329442:exon11:c.C955A:p.H319N,PPP1R16A:NM_032902:exon11:c.C955A:p.H319N	.	.	.	.	.	.	.	.	.	.	.	2271091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.100545148805	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1006585311	7.147e-06	1.026e-05	1.413e-06	1.302e-05	0.0002	3.61e-06	2.64e-06	1.076e-05	4.02e-06	6.498e-05	0	0	0	0	0.0002	0	0.0001	1.256e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.157	0.31730	T	0.014	0.16867	B	0.017	0.18140	B	0.000804	0.41658	D	0.207799	0.999981	0.54805	D	2.42	0.70002	M	-0.55	0.71068	T	-3.25	0.65283	D	0.359	0.40063	-0.6340	0.63401	T	0.302	0.67316	T	10	0.30752957	0.48255	T	0.100545	0.77289	D	0.199	0.48268	0.379	0.39482	0.738192863371	0.73584	0.47963244723428466	0.47883	0.15316533821	0.17281	0.894567370415	0.95816	D	0.256834	0.62779	T	0.00515059	0.52363	T	-0.230378	0.51736	T	0.739685416221619	0.42720	D	0.912209	0.68770	D	0.3253546	0.55087	0.26342782	0.52148	0.3253546	0.55087	0.26342782	0.52147	-5.852	0.45025	T	.	.	0.134	0.29004	B	.;.	.;.	4.067403	0.60402	24.2	0.98613915336700719	0.43677	0.94153	0.60273	D	AEFDGBCIJ	0.492675	0.52921	N	-0.118727641593657	0.36577	2.116152	0.0157014107499711	0.40442	2.413694	1.0	0.98316	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	4.94	4.94	0.64645	2.391000	0.44078	5.827000	0.50131	0.585000	0.30472	0.996000	0.39380	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	15.647	0.76815	906	0.23090	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	474.43	35	chr8	144500889	.	C	A	474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=348;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.83;SOR=0.495	GT:AD:DP:GQ:PL	0/1:20,17:37:99:486,0,527	9	0	1	0
chr8	144515769	144515769	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.G1253A:p.R418Q	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	834450	Inborn_genetic_diseases|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00371905356605	.	.	4.34e-05	0.0002	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs548957135	2.603e-05	2.599e-05	2.181e-05	3.03e-05	0.0002	1.935e-05	1.694e-05	0.0001	8.66e-05	5.975e-05	2.241e-05	0	2.52e-05	0	0.0002	9.896e-06	0.0001	0.0002	3.943e-05	4.597e-05	6.423e-05	1.345e-05	0.0004	1.716e-05	1.13e-05	7.287e-05	3.028e-05	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	0.645	0.06859	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.15046	.	.	.	.	.	.	.	0.056910813	0.06453	T	0.003719	0.08620	T	.	.	.	.	0.738890521019	0.73655	0.19984213987774022	0.19901	.	.	0.241066366434	0.02887	T	0.003439	0.10790	T	-0.412577	0.01911	T	-0.55098	0.17232	T	.	.	.	0.256274	0.04684	T	0.025363065	0.01466	0.04909124	0.07429	0.0270675	0.01847	0.03750387	0.03416	-2.012	0.03226	T	0.035299970979044165	0.00189	0.06	0.00934	B	.;.	.;.	0.067868	0.04772	1.389	0.53187184362117246	0.04891	0.01964	0.05955	N	AEFGBCI	0.045077	0.07332	N	.	.	.	.	.	.	0.999997527615445	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	0.281	0.14938	0.258000	0.18156	-0.177000	0.11169	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1852:0.3452:0.0:0.4696	3.185	0.06203	900	0.24599	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1992.43	34	chr8	144515769	.	C	T	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.61;DP=903;ExcessHet=0;FS=0.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.988;SOR=0.79	GT:AD:DP:GQ:PL	0/1:77,74:151:99:2004,0,1751	9	0	1	0
chr8	144522713	144522713	G	T	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.C1304A:p.A435E	.	.	.	.	.	.	.	.	.	.	.	2271071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.158410545846	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs534786173	7.623e-06	1.436e-05	2.754e-06	1.256e-05	0.0002	4.09e-06	2.99e-06	2.46e-05	1.282e-05	9.286e-05	0	0	0	0	0.0002	0	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02181	T	0.454	0.12812	T	0.06	0.25639	B	0.009	0.23121	B	0.486182	0.12109	N	0.773601	0.999981	0.18198	N	1.185	0.30054	L	0.71	0.54347	T	-1.06	0.27669	N	0.32	0.36043	-1.0015	0.29488	T	0.048	0.20315	T	10	0.04996085	0.04661	T	0.158411	0.83881	D	0.056	0.15993	0.304	0.27325	0.556470843481	0.55307	0.29890413137368577	0.29803	0.379533088141	0.39342	0.790273785591	0.80484	T	0.006298	0.05736	T	-0.165714	0.25885	T	-0.475813	0.24892	T	0.0672820251195402	0.08264	T	0.484852	0.14769	T	0.074253775	0.16649	0.12433727	0.29972	0.074253775	0.16649	0.12433727	0.29971	-5.267	0.39615	T	.	.	0.074	0.06710	B	.;.	.;.	1.055526	0.14367	10.95	0.66618721296481953	0.08112	0.33735	0.24900	N	ALL	0.106441	0.21238	N	-1.4832920669218	0.01968	0.08640472	-1.4974792555297	0.02365	0.1086572	0.999999999999654	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.92	-3.89	0.03916	0.164000	0.16359	0.311000	0.17083	0.673000	0.70640	0.054000	0.21560	0.000000	0.08366	0.665000	0.33109	0.1532:0.115:0.2688:0.463	2.321	0.03953	881	0.29269	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1209.43	33	chr8	144522713	.	G	T	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.523;DP=437;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.177;SOR=0.468	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1221,0,992	9	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,4:8:99:.:.:280,125,195:.	5	0	5	0
chr9	990508	990508	C	G	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.C922G:p.P308A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0349960857701	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs762258982	5.472e-06	5.472e-06	2.722e-06	8.25e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.247	0.23914	T	0.944	0.53183	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	1.63	0.28002	T	-2.04	0.46842	N	0.768	0.76573	-1.0585	0.12134	T	0.084	0.32814	T	10	0.7700315	0.77008	D	0.034996	0.56052	D	0.211	0.50185	0.243	0.17677	0.748580935362	0.74631	0.4195080281412742	0.41866	0.411149595252	0.41879	0.681231737137	0.64445	T	0.276373	0.64895	T	-0.166292	0.25798	T	-0.295115	0.45239	T	0.578396201133728	0.35557	D	0.890711	0.62461	D	0.13644156	0.31630	0.174065	0.39776	0.13644156	0.31630	0.174065	0.39775	-3.709	0.19451	T	.	.	0.096	0.15475	B	.	.	3.453560	0.48099	22.6	0.97984493053571098	0.37349	0.98884	0.88144	D	AEFDGBI	0.815152	0.73720	D	0.322580924946089	0.57309	3.897784	0.329305923519567	0.57268	3.89199	0.999999999677924	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	7.175000	0.77181	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:1.0:0.0:0.0	18.200	0.89770	884	0.28482	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3549.43	35	chr9	990508	.	C	G	3549.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=693;ExcessHet=0;FS=1.957;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.277;SOR=0.815	GT:AD:DP:GQ:PL	0/1:146,140:286:99:3561,0,3679	9	0	1	0
chr9	5770093	5770093	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon22:c.A3320G:p.E1107G,RIC1:NM_020829:exon23:c.A3431G:p.E1144G	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00392568735886	.	.	0.0004	0.0002	0.0004	0	0.0002	0.0005	0	0.0003	0.0003299	51	154602	rs200822292	0.0003	0.0003	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0001	0.0005	0.0021	0	0	0.0057	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0.0014	0	0	0.0170	0.0004	0.0009	0.0010	0.348	0.12386	T	0.335	0.18286	T	0.483	0.36807	P	0.122	0.32387	B	0.000010	0.62929	D	0.120765	0.999766	0.48888	D	1.32	0.33002	L	.	.	.	-0.77	0.21429	N	0.472	0.56489	-0.9367	0.43134	T	0.147	0.47129	T	9	0.031076789	0.01239	T	0.003926	0.09242	T	0.170	0.43303	.	.	0.043077524339	0.03247	0.3583041940539262	0.35744	.	.	0.483538359404	0.36544	T	0.041376	0.25837	T	-0.257526	0.13192	T	-0.260523	0.48772	T	0.0254421274288147	0.01331	T	0.865613	0.56501	D	0.1079291	0.25519	0.15755278	0.36835	0.1079291	0.25519	0.15755278	0.36834	-2.856	0.08711	T	.	.	0.090	0.15115	B	.;.	.;.	3.829295	0.55346	23.6	0.99553981915354806	0.71335	0.99354	0.94924	D	AEFBI	0.722077	0.67212	D	0.169237803292422	0.49725	3.169742	0.314489793788604	0.56389	3.802309	0.999998214705119	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	6.328000	0.72873	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.724	0.77499	457	0.78953	.;.	.	.	.	.	.	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	0.005035	0.000000	0.008152	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	999.43	35	chr9	5770093	.	A	G	999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=403;ExcessHet=0;FS=5.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.392;SOR=1.402	GT:AD:DP:GQ:PL	0/1:37,36:73:99:1011,0,927	9	0	1	0
chr9	6645448	6645448	C	A	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon1:c.G52T:p.G18C	Glycine encephalopathy, Autosomal recessive	27	1475	18	2	0	22	0.00740242	.	.	.	313206	not_specified|Glycine_encephalopathy|GLDC-related_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	.	.	0.00319489	0.0123	0	0	0	0	0.0192	0.125	0.0086	0.0007633	118	154602	rs535143891	0.0095	0.0081	0.0096	0.0095	0.0101	0.0094	0.0093	0.0099	0.0099	0.0016	0.0032	0.0009	0	0.0222	0.0093	0.0101	0.0069	0.0036	0.0066	0.0066	0.0062	0.0070	0.0094	0.0062	0.0061	0.0088	0.0085	0.0017	0	0.0055	0.0014	0.0002	0.0156	0.0274	0.0094	0.0057	0.0037	0.141	0.25560	T	0.169	0.30534	T	0.975	0.58077	D	0.671	0.53151	P	0.012100	0.29294	N	0.380726	0.739385	0.33805	D	0	0.06538	N	-5.5	0.99147	D	0.01	0.06868	N	0.378	0.41952	0.903	0.95713	D	0.874	0.95827	D	10	0.0070572793	0.00160	T	.	.	.	0.476	0.76816	.	.	.	.	0.4784810235007385	0.47768	0.312158064667	0.33514	0.840447425842	0.88162	D	0.23734	0.60501	T	-0.187909	0.22567	T	-0.0303704	0.68344	D	0.050982793694094	0.05672	T	0.418458	0.11053	T	0.16432393	0.36632	0.07916797	0.17800	0.103731535	0.24519	0.084022224	0.19298	-5.233	0.39275	T	.	.	0.126	0.26576	B	.	.	2.336724	0.29942	18.28	0.99676450093362889	0.78977	0.30879	0.24195	N	AEFDBCI	0.230020	0.35346	N	-0.16275929776004	0.34693	1.983369	-0.177521095942134	0.32366	1.840615	0.999999949464295	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.51	3.62	0.40616	0.822000	0.27007	1.611000	0.27635	0.449000	0.21268	0.057000	0.21666	0.393000	0.24673	0.003000	0.05239	0.237:0.6659:0.0:0.0971	5.89	0.18149	882	0.29131	.	.	.	.	.	.	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	0.005333	0.000000	0.010638	0.010417	0.000000	0.000000	0.000000	0.000000	0.05	336.43	29	chr9	6645448	.	C	A	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.834;DP=230;ExcessHet=0;FS=5.528;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-2.114;SOR=2.494	GT:AD:DP:GQ:PL	0/1:6,11:17:99:348,0,131	9	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P,CNTLN:NM_017738:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	217.4	41	chr9	17394900	.	T	C	217.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.079;DP=643;ExcessHet=0.2348;FS=212.351;InbreedingCoeff=-0.1223;MLEAC=2;MLEAF=0.1;MQ=59.96;MQRankSum=0;QD=1.27;ReadPosRankSum=0.043;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,17:74:99:.:.:180,0,1108:.	8	0	2	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	480.39	34	chr9	20414312	.	A	ACTG	480.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.336;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=0.976;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,13:26:99:0|1:20414312_A_ACTG:492,0,468:20414312	9	0	1	0
chr9	26892562	26892579	CGCTCCCGCAGCCCCCGG	-	exonic	CAAP1	.	nonframeshift deletion	CAAP1:NM_024828:exon1:c.137_154del:p.A46_S51del	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.000599042	0.0013	0.0015	0.0024	0.0011	0.0011	0.0016	0	0.0007	2.59e-05	4	154602	rs537300337	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	0.0005	0.0006	0	0.0006	0.0002	0.0017	0.0004	0.0005	0.0007	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0003	0.0006	0.0005	0.0004	0.0011	0.0010	0	0.0004	0	0	0.0004	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1217.39	42	chr9	26892561	.	ACGCTCCCGCAGCCCCCGG	A	1217.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.763;DP=392;ExcessHet=0;FS=2.207;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.74;ReadPosRankSum=-0.018;SOR=0.57	GT:AD:DP:GQ:PL	0/1:25,31:56:99:1229,0,954	9	0	1	0
chr9	34621499	34621499	G	A	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon7:c.C1198T:p.P400S,ARID3C:NM_001371945:exon7:c.C1015T:p.P339S	.	.	.	.	.	.	.	.	.	.	.	2677834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00656921507214	.	.	0.0002	0.0005	8.811e-05	0	0	0.0002	0	6.151e-05	0.0001488	23	154602	rs199739092	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	4.278e-05	0	0	0	0.0001	0.0002	2.706e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.714e-05	0.0002	0.0001	0.0001	0	0	0	0	0	0	0.0003	0	0.0002	0.51	0.07497	T	0.158	0.31629	T	0.056	0.22806	B	0.014	0.16862	B	0.009227	0.30456	N	0.155971	0.974633	0.25480	N	0.98	0.24916	L	0.98	0.42122	T	-0.31	0.12099	N	0.336	0.37717	-1.0309	0.20163	T	0.070	0.28609	T	10	0.038083166	0.02204	T	0.006569	0.17329	T	0.027	0.05988	.	.	0.136095386433	0.13204	0.5601326404005851	0.55940	0.259062600134	0.28458	0.362723618746	0.19782	T	0.005834	0.05277	T	-0.446624	0.01182	T	-0.571905	0.15275	T	0.0125002940244806	0.00207	T	0.439156	0.12095	T	0.026706196	0.01762	0.0449812	0.05950	0.026706196	0.01761	0.0449812	0.05949	-3.581	0.17582	T	.	.	0.065	0.02012	B	.	.	2.015368	0.25606	16.82	0.88807300849920301	0.18271	0.78565	0.38780	D	AEFBI	0.267259	0.38400	N	-0.546513702464111	0.20592	1.086735	-0.413169338584387	0.24610	1.348617	0.999969654075069	0.48965	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.37	3.47	0.38831	-0.041000	0.12036	6.304000	0.55418	-0.124000	0.13482	0.001000	0.13787	1.000000	0.68203	0.894000	0.43146	0.1088:0.0:0.8912:0.0	8.373	0.31587	270	0.89404	.	.	.	.	.	.	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	0.001517	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	655.43	34	chr9	34621499	.	G	A	655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.499;DP=361;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.864;SOR=0.43	GT:AD:DP:GQ:PL	0/1:24,26:50:99:667,0,603	9	0	1	0
chr9	35906625	35906625	-	CACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.338_339insCACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC:p.H113_A114insTPHHLHHHHHHHHHHP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	336.44	20	chr9	35906625	.	A	ACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC	336.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=292;ExcessHet=0;FS=8.607;InbreedingCoeff=-0.1773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.402;SOR=2.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,14:31:99:0|1:35906604_C_A:345,0,677:35906604	5	0	1	4
chr9	35957239	35957239	A	G	exonic	OR2S2	.	nonsynonymous SNV	OR2S2:NM_019897:exon1:c.T860C:p.V287A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0115	0.00858626	0.0030	0.0331	0.0020	0	0	0	0.0011	0	0.0028719	444	154602	rs2233570	0.0009	0.0009	0.0011	0.0008	0.0336	0.0009	0.0009	0.0319	0.0313	0.0336	0.0021	0	0	0	0.0012	1.799e-05	0.0021	9.275e-05	0.0085	0.0086	0.0089	0.0082	0.0299	0.0082	0.0080	0.0285	0.0279	0.0299	0	0.0032	0	0	0	0	7.354e-05	0.0028	0.0002	0.037	0.43085	D	.	.	.	0.101	0.25775	B	0.12	0.32230	B	0.081371	0.20870	N	0.346122	1	0.08975	N	1.795	0.47270	L	8.19	0.00279	T	-3.34	0.66325	D	0.487	0.52119	-0.9595	0.39274	T	0.000	0.00075	T	10	0.0068852007	0.00156	T	.	.	.	0.053	0.14996	.	.	0.208816687407	0.20498	0.06462187369631338	0.06401	0.081196829567	0.09137	0.240981936455	0.02879	T	0.006025	0.05459	T	-0.5984	0.00149	T	-0.606574	0.12264	T	0.0367051199031075	0.03104	T	0.585041	0.21304	T	0.038515747	0.05147	0.08094471	0.18353	0.038515747	0.05146	0.08094471	0.18352	-6.598	0.51038	T	.	.	0.152	0.33596	B	.	.	1.761448	0.22403	15.61	0.68338257055298512	0.08628	0.10356	0.15885	N	AEFGBI	0.063896	0.12377	N	-0.711343823693758	0.15702	0.7936506	-0.765773762533711	0.15336	0.8060253	0.593228704253079	0.21664	0.486886	0.10167	0	0.563428	0.19063	0	0.563428	0.18855	0	0.478617	0.07155	0	.	.	3.98	2.81	0.31971	2.430000	0.44424	3.627000	0.39303	-0.097000	0.15994	0.137000	0.23458	0.117000	0.22861	0.115000	0.18958	0.6104:0.1986:0.0:0.191	4.776	0.12551	561	0.71236	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1819.43	34	chr9	35957239	.	A	G	1819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.728;DP=413;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.447;SOR=0.774	GT:AD:DP:GQ:PL	0/1:41,68:109:99:1831,0,958	9	0	1	0
chr9	36121551	36121551	A	G	exonic	RECK	.	nonsynonymous SNV	RECK:NM_021111:exon20:c.A2557G:p.I853V,RECK:NM_001316345:exon22:c.A2173G:p.I725V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00502226197022	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307461233	4.789e-06	4.788e-06	5.446e-06	4.126e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.347	0.12428	T	0.426	0.13872	T	0.029	0.19866	B	0.006	0.12133	B	0.000089	0.51296	N	0.174798	0.62469	0.32736	D	0.46	0.12951	N	1.05	0.39990	T	-0.2	0.10136	N	0.23	0.25867	-1.0287	0.20876	T	0.062	0.25708	T	10	0.07116401	0.10452	T	0.005022	0.12690	T	0.044	0.11924	0.199	0.11247	0.379193981924	0.37526	0.4029344917674415	0.40209	0.189435828692	0.21264	0.364954322577	0.20105	T	0.083334	0.37031	T	-0.244307	0.14803	T	-0.588707	0.13778	T	0.338470041751862	0.26563	T	0.712229	0.32360	T	0.022395005	0.00899	0.032401614	0.01971	0.022395005	0.00899	0.032401614	0.01970	-6.687	0.51712	T	.	.	0.057	0.00533	B	.	.	1.320740	0.17245	13.05	0.8677715523548406	0.16766	0.78552	0.38772	D	AEFBI	0.097128	0.19596	N	-0.484146987553164	0.22600	1.207882	-0.291653375681609	0.28372	1.581496	0.970914720045713	0.29245	0.732398	0.92422	0	0.610034	0.51514	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.66	3.32	0.37134	3.131000	0.50210	4.026000	0.41295	-0.051000	0.17024	0.997000	0.40164	0.999000	0.35428	0.997000	0.79791	0.8406:0.0:0.1594:0.0	8.607	0.32944	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1035.43	33	chr9	36121551	.	A	G	1035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=437;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.228;SOR=0.619	GT:AD:DP:GQ:PL	0/1:78,49:127:99:1047,0,1888	9	0	1	0
chr9	41953185	41953185	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon13:c.G2078A:p.R693Q	.	.	.	.	.	.	.	.	0.0001	0.01	.	2334252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00231160406219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418042658	8.34e-05	0.0007	9.551e-05	7.102e-05	0.0028	7.058e-05	6.568e-05	0.0023	0.0021	0.0028	0.0006	0	3.011e-05	0	0	1.023e-05	7.044e-05	3.83e-05	0.0006	0.0051	0.0007	0.0005	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	0	0.0014	0	.	.	.	0.694	0.11795	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.08366	.	.	.	.	.	.	.	0.031951547	0.01338	T	.	.	.	.	.	.	.	.	.	0.11500697654376946	0.11428	.	.	.	.	.	0.003811	0.03222	T	.	.	.	.	.	.	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.289	0.39834	T	.	.	0.073	0.06990	B	.;.;.;.	.;.;.;.	-0.278381	0.02713	0.356	.	.	.	.	.	.	0.028830	0.02611	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.531000	0.01019	-5.565000	0.01673	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	.	.	.	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	132.43	34	chr9	41953185	.	C	T	132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.407;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.23;MQRankSum=-3.01;QD=2.55;ReadPosRankSum=1.28;SOR=0.617	GT:AD:DP:GQ:PL	0/1:41,11:52:99:144,0,919	9	0	1	0
chr9	73170064	73170064	G	C	exonic	ANXA1	.	nonsynonymous SNV	ANXA1:NM_000700:exon13:c.G998C:p.G333A	.	.	.	.	.	.	.	.	.	.	.	3558269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.425	0.0215920964074	0.0002	.	2.52e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs149989764	1.031e-05	1.026e-05	1.23e-05	8.287e-06	0.0004	6.19e-06	4.91e-06	0.0002	0.0002	0.0004	0	0	0	0	0	0	4.994e-05	0	9.211e-05	9.196e-05	7.716e-05	0.0001	0.0003	5.535e-05	4.37e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.142328	1	0.81001	D	3.98	0.96631	H	2.21	0.18414	T	-5.27	0.84175	D	0.473	0.50868	-0.6796	0.61391	T	0.185	0.53421	T	10	0.42542464	0.57141	T	0.021592	0.44379	T	0.425	0.73299	.	.	0.723900465636	0.72146	0.8418663161405916	0.84146	0.227004266067	0.25252	0.640963435173	0.58701	T	0.417963	0.77045	T	-0.0817118	0.39437	T	-0.0589575	0.66405	T	0.994006037712097	0.85055	D	0.950005	0.80823	D	0.80380553	0.84150	0.8339088	0.90441	0.80380553	0.84151	0.8339088	0.90441	-10.356	0.76015	D	.	.	0.672	0.71819	P	.;.	.;.	5.127760	0.85797	28.7	0.99813892292619921	0.89708	0.99333	0.94632	D	AEFBHCI	0.778498	0.71098	D	0.961968884107275	0.94448	12.76624	0.915131564295966	0.96198	14.41389	0.999999999999995	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	6.699000	0.74437	11.739000	0.95154	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.209	0.98287	679	0.60090	Annexin repeat, conserved site;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	544.43	35	chr9	73170064	.	G	C	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=352;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.03;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,24:42:99:556,0,370	9	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K,VPS13A:NM_001018038:exon51:c.G7078A:p.E2360K,VPS13A:NM_015186:exon51:c.G7078A:p.E2360K,VPS13A:NM_033305:exon51:c.G7078A:p.E2360K	Choreoacanthocytosis, Autosomal recessive	7	1499	15	1	0	17	0.00563847	.	.	YES	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	663.43	33	chr9	77344204	.	G	A	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=361;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.101;SOR=0.553	GT:AD:DP:GQ:PL	0/1:25,30:55:99:675,0,542	9	0	1	0
chr9	87887555	87887555	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G3068A:p.G1023E	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00579308216334	0.0009	0.000399361	0.0013	0.0003	0.0003	0	0.0002	0.0017	0	0.0023	0.0011837	183	154602	rs146606700	0.0014	0.0014	0.0014	0.0015	0.0023	0.0014	0.0013	0.0020	0.0019	0.0002	0.0004	7.652e-05	0	0.0005	0.0023	0.0016	0.0009	0.0023	0.0010	0.0010	0.0012	0.0009	0.0023	0.0009	0.0009	0.0016	0.0015	0.0002	0	0.0003	0	0	0.0002	0	0.0019	0.0028	0.0023	0.008	0.58626	D	0.055	0.46862	T	0.571	0.38591	P	0.28	0.40294	B	0.000937	0.00711	N	3.781800	1	0.08975	N	0.83	0.20963	L	3.99	0.03268	T	-1.98	0.45769	N	0.087	0.06454	-1.0049	0.28487	T	0.007	0.02360	T	10	0.008343488	0.00189	T	0.005793	0.15042	T	0.074	0.21613	.	.	0.0920862733494	0.08535	0.1325441135121032	0.13178	0.0157298792778	0.01500	0.469676017761	0.34635	T	0.007684	0.07071	T	-0.682793	0.00046	T	-0.758177	0.03178	T	0.0190963003832645	0.00617	T	0.316468	0.06291	T	0.12340435	0.28978	0.12582357	0.30311	0.12340435	0.28978	0.12582357	0.30310	-3.928	0.22723	T	.	.	0.198	0.41992	B	.	.	0.781498	0.11518	8.115	0.7279685801551482	0.10099	0.00390	0.01961	N	AEFBI	0.032148	0.03575	N	-1.25874770870642	0.04186	0.1884272	-1.41302941789753	0.03121	0.1449738	0.197073214333775	0.18073	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.05	-4.22	0.03541	-0.006000	0.12769	-15.955000	0.00333	-0.305000	0.06155	0.006000	0.17386	0.000000	0.08366	0.004000	0.06068	0.4448:0.158:0.2373:0.1599	1.131	0.01637	955	0.09969	.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1329.43	34	chr9	87887555	.	G	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=540;ExcessHet=0;FS=2.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=1.98;SOR=0.868	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1341,0,839	9	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:197,121:343:99:885,0,3011	0	0	10	0
chr9	92186775	92186775	C	G	exonic	PRSS47	.	nonsynonymous SNV	PRSS47:NM_001350291:exon4:c.G589C:p.G197R	.	555	924	41	2	0	45	0.0237718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0016559	256	154602	rs75298708	0.0156	0.0005	0.0179	0.0133	0.0269	0.0122	0.0109	0.0206	0.0183	0.0250	0	0	0	0.0014	0.0269	0	0.0082	0.0109	0.0082	0.0082	0.0084	0.0080	0.0146	0.0079	0.0077	0.0118	0.0108	0.0013	0.0570	0.0067	0.0378	0.0133	0.0022	0.0340	0.0106	0.0095	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	68.21	1	chr9	92186775	.	C	G	68.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=40;ExcessHet=0;FS=0;InbreedingCoeff=-0.1183;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.74;ReadPosRankSum=0;SOR=1.112	GT:AD:DP:GQ:PL	0/1:1,2:3:32:73,0,32	9	0	1	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I,WNK2:NM_001282394:exon28:c.G6430A:p.V2144I	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	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	0.011111	0.005102	0.004098	0.011765	0.000000	0.000000	0.015337	0.034091	0.1	3504.14	115	chr9	93308387	.	G	A	3504.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=563;ExcessHet=0.2348;FS=0.447;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.26;SOR=0.651	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1804,0,1523	8	0	2	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R	.	422	1055	45	0	0	45	0.0208817	.	.	.	3210553	COL15A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017154	0.015306	0.014946	0.011696	0.050000	0.000000	0.024540	0.030303	0.05	1072.43	41	chr9	99054627	.	A	G	1072.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.188;SOR=0.681	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1084,0,1435	9	0	1	0
chr9	113193508	113193508	T	C	exonic	FKBP15	.	nonsynonymous SNV	FKBP15:NM_015258:exon11:c.A1049G:p.Q350R	.	431	1090	1	0	0	1	0.000458505	.	.	.	3669723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0165999868944	.	.	6.533e-05	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs755243191	1.937e-05	1.915e-05	1.373e-05	2.51e-05	0.0012	1.343e-05	1.156e-05	0.0006	0.0004	0	4.72e-05	0	0	0	0.0012	2.719e-06	0	0.0002	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	6.537e-05	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.021	0.76473	D	0.856	0.47190	P	0.33	0.42079	B	.	.	.	.	0.891983	0.35973	D	2.615	0.76484	M	1.63	0.36512	T	-2.54	0.56144	D	0.409	0.44952	-0.8362	0.52898	T	0.118	0.41385	T	9	0.16604814	0.31019	T	0.017	0.37934	T	0.061	0.17616	0.189	0.09907	0.358134431457	0.35428	.	.	0.32204808663	0.34400	0.517786562443	0.41314	T	0.060773	0.44593	T	-0.269696	0.11790	T	-0.37013	0.36874	T	0.588923215866089	0.35964	D	0.854315	0.54093	D	0.1809378	0.39239	0.31432512	0.57425	0.1809378	0.39239	0.31432512	0.57424	-8.408	0.63818	D	.	.	0.172	0.37764	B	.;.;.	.;.;.	3.577229	0.50415	22.9	0.99563805519209203	0.71953	0.97752	0.76876	D	AEFBI	0.513944	0.54152	D	0.331611768183141	0.57778	3.94653	0.344079920901514	0.58151	3.984118	0.99999742189458	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	4.45	0.53365	5.362000	0.65850	6.186000	0.54701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.1496:0.8504	11.529	0.49849	575	0.70088	.;.;.	.	.	.	.	.	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	0.05	533.43	34	chr9	113193508	.	T	C	533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.349;DP=365;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.874;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,26:49:99:545,0,622	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,42:336:99:0|1:122724732_T_C:786,0,11992:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,34:319:99:0|1:122724732_T_C:569,0,11865:122724732	3	0	7	0
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	119.12	62	chr9	127707150	.	T	C	119.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.465;DP=451;ExcessHet=0.2633;FS=83.411;InbreedingCoeff=-0.1905;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=2.3;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,8:42:61:0|1:127707148_G_A:61,0,895:127707148	6	0	2	2
chr9	128435744	128435744	G	A	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon12:c.G1393A:p.A465T,CERCAM:NM_016174:exon12:c.G1627A:p.A543T	.	.	.	.	.	.	.	.	.	.	.	4120463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0170560436131	7.7e-05	.	2.628e-05	0	0	0	0	4.775e-05	0	0	1.94e-05	3	154602	rs143658564	1.574e-05	1.573e-05	1.77e-05	1.376e-05	0.0002	1.048e-05	8.76e-06	1.093e-05	8.81e-06	2.987e-05	0	0	0	0	0.0002	1.709e-05	1.656e-05	1.161e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.371	0.11514	T	0.456	0.13441	T	0.002	0.09854	B	0.001	0.04355	B	0.077592	0.21094	N	0.505173	1	0.08975	N	0.28	0.10031	N	-1.07	0.77078	T	-0.33	0.15986	N	0.144	0.18103	-0.9599	0.39199	T	0.230	0.59521	T	10	0.05342284	0.05532	T	0.017056	0.38601	T	0.090	0.26093	.	.	0.279370189704	0.27548	0.3648732942267169	0.36401	0.121482305257	0.13691	0.425724923611	0.28624	T	0.002314	0.07741	T	-0.370522	0.03568	T	-0.589709	0.13690	T	0.0220412374000934	0.00914	T	0.717928	0.33070	T	0.019602522	0.00494	0.02758408	0.00922	0.019602522	0.00494	0.02758408	0.00922	-4.196	0.38819	T	.	.	0.071	0.05935	B	.;.;.	.;.;.	1.185197	0.15760	12.08	0.93003313730783077	0.22594	0.07931	0.13917	N	AEFDGBI	0.121041	0.23550	N	-0.961342010616181	0.09439	0.4467457	-0.994290979941743	0.09913	0.4959981	0.87329766931289	0.25463	0.732398	0.92422	0	0.670034	0.63936	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.07	-0.0721	0.13074	0.061000	0.14242	1.434000	0.26471	0.672000	0.70159	0.000000	0.06391	0.010000	0.20010	0.578000	0.30845	0.3517:0.0:0.3787:0.2695	3.649	0.07734	380	0.83728	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1172.43	33	chr9	128435744	.	G	A	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.191;DP=391;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.089;SOR=0.573	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1184,0,825	9	0	1	0
chr9	132329641	132329641	G	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.C1957A:p.Q653K,SETX:NM_001351528:exon10:c.C1957A:p.Q653K,SETX:NM_015046:exon10:c.C1957A:p.Q653K	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	38424	not_provided|Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.217	.	0.0075	0.00559105	0.0017	0.0190	0.0008	0	0	5.999e-05	0	0	0.0017011	263	154602	rs116333061	0.0006	0.0006	0.0007	0.0005	0.0218	0.0006	0.0006	0.0204	0.0199	0.0218	0.0013	0	0	0	0.0003	2.698e-05	0.0014	3.481e-05	0.0059	0.0059	0.0059	0.0059	0.0201	0.0056	0.0055	0.0190	0.0186	0.0201	0	0.0031	0	0	0	0	2.941e-05	0.0066	0	0.004	0.65419	D	0.4	0.15010	T	0.437	0.35811	B	0.079	0.28749	B	0.005404	0.01077	U	6.723130	3.06893e-08	0.08975	A	1.905	0.50856	L	-2.18	0.86722	D	-1.1	0.28497	N	0.23	0.25867	-0.5268	0.67662	T	0.292	0.66364	T	9	0.042258054	0.02957	T	.	.	.	0.217	0.51112	.	.	0.644179225217	0.64124	0.21048669507374018	0.20964	0.124345642986	0.14002	0.271023511887	0.06275	T	0.261475	0.63295	T	-0.441112	0.01274	T	-0.390808	0.34455	T	0.011204762514747	0.00164	T	0.477152	0.14354	T	0.103919744	0.24565	0.087507665	0.20346	0.103919744	0.24565	0.087507665	0.20345	-2.713	0.07413	T	0.5680977986575673	0.63543	0.074	0.04889	B	.	.	1.923728	0.24430	16.39	0.98704997477146039	0.44967	0.52652	0.29183	D	AEFGBI	0.112327	0.22207	N	-0.543336113667726	0.20692	1.092743	-0.571047036341082	0.20249	1.090108	0.999998878232107	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.11	4.21	0.48984	2.209000	0.42445	4.682000	0.44325	0.676000	0.76740	0.044000	0.21163	0.994000	0.32194	0.097000	0.18139	0.0868:0.0:0.9132:0.0	11.159	0.47731	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1638.43	42	chr9	132329641	.	G	T	1638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.406;DP=539;ExcessHet=0;FS=1.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.45;SOR=0.803	GT:AD:DP:GQ:PL	0/1:89,64:153:99:1650,0,2473	9	0	1	0
chr9	135501001	135501001	C	T	exonic	MRPS2	.	nonsynonymous SNV	MRPS2:NM_016034:exon2:c.C47T:p.A16V,MRPS2:NM_001371401:exon3:c.C47T:p.A16V	.	428	1093	1	0	0	1	0.000457247	.	.	.	3557395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.0144468537279	.	.	9.23e-06	0	0	0	0	1.702e-05	0	0	6.5e-06	1	154602	rs758180859	1.644e-05	1.642e-05	9.543e-06	2.341e-05	0.0005	1.112e-05	9.35e-06	0.0001	7.552e-05	0	0	0	0	0	0.0005	1.169e-05	0.0001	0	1.315e-05	1.313e-05	0	2.692e-05	6.544e-05	2.19e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.471e-05	0	0	1.0	0.58626	T	0.426	0.58613	T	0.0	0.02946	B	0.001	0.04355	B	0.537332	0.05293	N	1.354340	0.999996	0.08975	N	0.665	0.16292	N	1.94	0.36512	T	0.05	0.06369	N	0.156	0.16168	-1.0310	0.20131	T	0.046	0.19599	T	10	0.05279523	0.05370	T	0.014447	0.34575	T	0.007	0.00512	0.216	0.13643	0.519514513453	0.51594	0.2496107410543429	0.24875	0.223371821447	0.24866	0.620588421822	0.55812	T	0.017134	0.14032	T	-0.437487	0.01338	T	-0.68405	0.06740	T	0.0611829983914971	0.07353	T	0.454955	0.16548	T	0.015482809	0.00141	0.025066087	0.00539	0.015482809	0.00141	0.025066087	0.00539	-4.545	0.31473	T	.	.	0.089	0.13923	B	.;.;.	.;.;.	0.558874	0.09276	6.056	0.99282357053908243	0.57938	0.00298	0.01590	N	ALL	0.034976	0.04426	N	-1.14080996136853	0.05932	0.2717856	-1.18777203035465	0.06113	0.2932699	0.999999996079701	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.64	-1.46	0.08338	-0.672000	0.05345	-0.767000	0.07511	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.4921:0.2029:0.305	3.886	0.08602	458	0.78890	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	835.43	33	chr9	135501001	.	C	T	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=418;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=-0.846;SOR=0.652	GT:AD:DP:GQ:PL	0/1:68,40:108:99:847,0,1678	9	0	1	0
chr9	136407206	136407206	G	A	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon3:c.C539T:p.A180V,ENTR1:NM_006643:exon4:c.C689T:p.A230V,ENTR1:NM_001039707:exon5:c.C758T:p.A253V	.	427	1090	5	0	0	5	0.00228833	.	.	.	3245417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00476509856626	0.0002	0.000599042	0.0003	0	0.0006	0	0	0.0002	0	0.0011	0.0002781	43	154602	rs199971666	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	2.989e-05	0.0007	0.0021	0	0	0.0007	8.365e-05	0.0001	0.0012	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	4.811e-05	0	0.0002	0.0023	0	0	0.0034	0.0001	0	0.0021	0.057	0.37966	T	0.18	0.36365	T	0.021	0.21875	B	0.009	0.17743	B	0.324891	0.14210	N	0.705638	1	0.08975	N	.	.	.	2.37	0.34253	T	-1.33	0.54546	N	0.233	0.26233	-1.0337	0.19268	T	0.069	0.28247	T	10	0.0063961744	0.00145	T	0.004765	0.11879	T	0.021	0.04004	.	.	0.151104730317	0.14643	0.26413123652624776	0.26326	0.0172583685395	0.01676	0.449645698071	0.31896	T	0.008629	0.36561	T	-0.563739	0.00241	T	-0.638897	0.09749	T	0.0307205749635659	0.02102	T	0.768323	0.39714	T	0.023245666	0.01048	0.04908254	0.07425	0.023245666	0.01048	0.04908254	0.07424	-4.34	0.28734	T	.	.	0.093	0.22245	B	.;.;.;.	.;.;.;.	1.606505	0.20534	14.79	0.98967005005255282	0.49442	0.14094	0.18219	N	AEFGBI	0.127301	0.24460	N	-0.559263053850874	0.20194	1.062788	-0.512255972100034	0.21820	1.182225	0.999993286689988	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	3.54	0.39650	2.145000	0.41830	1.298000	0.25456	0.676000	0.76740	0.022000	0.19841	0.001000	0.17328	0.040000	0.14268	0.1645:0.0:0.8355:0.0	10.543	0.44234	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.005051	0.000000	0.000000	0.000000	0.008621	0.003067	0.003788	0.05	887.43	42	chr9	136407206	.	G	A	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=524;ExcessHet=0;FS=3.06;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.392;SOR=0.416	GT:AD:DP:GQ:PL	0/1:40,37:77:99:899,0,878	9	0	1	0
chr9	136474332	136474332	T	C	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.A3284G:p.N1095S,SEC16A:NM_014866:exon3:c.A3284G:p.N1095S	.	414	1107	1	0	0	1	0.000451467	.	.	.	2762644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00457528888553	.	0.000199681	0.0001	0	0.0006	0	0	0	0	0.0005	0.0001035	16	154602	rs551567130	7.74e-05	7.798e-05	6.269e-05	9.226e-05	0.0007	6.541e-05	6.144e-05	0.0006	0.0005	0	0.0006	0	0	0	0	1.979e-05	3.315e-05	0.0007	6.565e-05	6.561e-05	5.139e-05	8.055e-05	0.0015	3.514e-05	2.614e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	0	0	0.0015	0.206	0.20759	T	0.625	0.12386	T	0.01	0.15535	B	0.005	0.11217	B	0.208289	0.03368	N	1.453100	1	0.08975	N	.	.	.	2.0	0.21473	T	-0.97	0.28906	N	0.117	0.10626	-1.0008	0.29688	T	0.032	0.13811	T	10	0.012262523	0.00264	T	0.004575	0.11283	T	0.024	0.04979	0.103	0.01643	0.213499824651	0.20940	0.10691814632071148	0.10621	0.0570264657902	0.06303	0.342351973057	0.16790	T	0.015702	0.13121	T	-0.612306	0.00123	T	-0.745048	0.03683	T	0.0133600236830753	0.00241	T	0.666933	0.27600	T	0.02931268	0.02406	0.030320127	0.01473	0.02931268	0.02405	0.030320127	0.01472	-1.861	0.02697	T	.	.	0.092	0.16451	B	.;.;.;.	.;.;.;.	-0.247628	0.02856	0.402	0.55626583461896661	0.05382	0.08240	0.14194	N	AEFGBHCI	0.048783	0.08360	N	-1.22845185955608	0.04592	0.2075531	-1.2768842196142	0.04744	0.2245137	0.999999665833298	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	-3.97	0.03821	0.189000	0.16845	-0.409000	0.09359	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.4259:0.1124:0.4617	8.355	0.31488	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2088.43	78	chr9	136474332	.	T	C	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=602;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.474;SOR=0.639	GT:AD:DP:GQ:PL	0/1:76,85:161:99:2100,0,1754	9	0	1	0
chr9	136748446	136748446	A	G	exonic	LCN6	.	nonsynonymous SNV	LCN6:NM_198946:exon1:c.T38C:p.V13A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00510152431081	0.0028	.	0.0017	0.0009	0.0002	0	0.0009	0.0027	0	0.0007	0.0017464	270	154602	rs147978470	0.0041	0.0041	0.0043	0.0038	0.0050	0.0040	0.0040	0.0048	0.0048	0.0006	0.0004	0.0009	0	0.0005	0.0002	0.0050	0.0048	0.0008	0.0022	0.0022	0.0025	0.0019	0.0036	0.0020	0.0019	0.0032	0.0030	0.0011	0.0307	0.0003	0.0017	0	0.0002	0	0.0036	0.0014	0.0002	0.46	0.08736	T	0.176	0.29843	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.51	0.30937	T	-0.56	0.17003	N	0.019	0.00279	-0.9746	0.36213	T	0.034	0.14726	T	9	0.0031214058	0.00052	T	0.005102	0.12939	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.6377856446495276	0.63712	0.0513725218278	0.05653	0.680624783039	0.64358	T	0.002603	0.01994	T	-0.719362	0.00028	T	-0.804861	0.01784	T	0.000630571215879172	0.00006	T	0.234876	0.03235	T	0.017448239	0.00273	0.06261858	0.12277	0.017448239	0.00273	0.06261858	0.12277	-3.618	0.18118	T	.	.	0.080	0.07554	B	.	.	-0.258311	0.02805	0.386	0.79498365085908973	0.12769	0.00501	0.02358	N	AEFDBI	0.035299	0.04519	N	-1.50258472105728	0.01833	0.08036073	-1.57650921329427	0.01800	0.08192808	0.987811035872071	0.31348	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.67	-2.76	0.05547	-1.865000	0.01741	-2.306000	0.03922	-0.758000	0.03527	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2659:0.1865:0.5476:0.0	6.151	0.19525	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	467.43	37	chr9	136748446	.	A	G	467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=371;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.222;SOR=0.694	GT:AD:DP:GQ:PL	0/1:26,20:46:99:479,0,604	9	0	1	0
chr9	136855599	136855599	G	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon12:c.G1451T:p.G484V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540	0.321975692392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404362104	1.397e-06	1.368e-06	1.383e-06	1.411e-06	3.029e-05	2.3e-07	9e-08	.	.	3.029e-05	0	0	0	0	0	0	0	1.215e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.959	0.55135	D	0.811	0.58656	P	0.001380	0.39242	N	0.112881	0.999139	0.51612	D	3.5	0.92762	M	-2.55	0.89561	D	-6.19	0.92042	D	0.741	0.74098	0.642	0.92438	D	0.801	0.93259	D	10	0.8059901	0.79938	D	0.321976	0.91501	D	0.540	0.80782	0.396	0.42262	0.844865960073	0.84338	0.6665575908930276	0.66593	0.186328379194	0.20943	0.553474068642	0.46347	T	0.245121	0.61437	T	0.140	0.68315	D	-0.0368205	0.67915	D	0.983557343482971	0.75178	D	0.768423	0.39759	T	0.42022192	0.62106	0.42124954	0.66063	0.42022192	0.62107	0.42124954	0.66063	-14.101	0.93380	D	.	.	0.525	0.65688	A	.;.	.;.	3.011707	0.40274	21.1	0.99483052020610385	0.67014	0.79385	0.39327	D	AEFBHCI	0.258813	0.37728	N	0.105678843525675	0.46726	2.90874	-0.0480163793655533	0.37576	2.202007	0.993314387479627	0.33167	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	4.76	2.86	0.32427	1.817000	0.38640	3.534000	0.38969	-0.286000	0.06345	0.955000	0.33325	1.000000	0.68203	0.060000	0.15972	0.0:0.3592:0.6408:0.0	12.270	0.54017	964	0.07719	.;.	.	.	.	.	.	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	0.002543	0.000000	0.005450	0.000000	0.000000	0.000000	0.003086	0.003788	0.05	1437.43	36	chr9	136855599	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.519;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,42:98:99:0|1:136855599_G_T:1449,0,2070:136855599	9	0	1	0
chr9	136855620	136855620	G	A	splicing	MAMDC4	NM_206920:exon12:c.1471+1G>A	.	.	.	409	1096	16	1	0	18	0.0081448	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0032	0	0.0032	0	0.0039	0.0013	0.0079	0.0097	0.0012807	198	154602	rs201767253	0.0013	0.0013	0.0011	0.0015	0.0097	0.0013	0.0013	0.0092	0.0089	0.0002	0.0009	3.964e-05	0	0.0008	0.0032	0.0009	0.0012	0.0097	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.195735	0.21422	T	-0.0473975	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.632080	0.92682	32	0.99225599677801968	0.56057	0.89614	0.50191	D	AEFBHCI	.	.	.	0.924474549469722	0.92907	11.70093	0.722570702545955	0.84095	8.196856	0.999942106450456	0.47345	0.092769	0.02424	0	0.130567	0.03505	0	0.068591	0.01938	0	0.083433	0.02327	0	0.963142	0.66986	4.76	4.76	0.60189	4.889000	0.62862	11.250000	0.90713	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.499	0.67289	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1365.43	36	chr9	136855620	.	G	A	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=419;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.559;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,39:97:99:0|1:136855599_G_T:1377,0,2160:136855599	9	0	1	0
chr9	137022743	137022743	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon5:c.C398T:p.A133V,ABCA2:NM_212533:exon5:c.C488T:p.A163V	.	420	1095	7	0	0	7	0.00318616	.	.	.	3210750	ABCA2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.153	.	.	0.0109824	0.0103	0	0.0006	0	0	0.0001	0.0021	0.0625	0.0056726	877	154602	rs551444612	0.0030	0.0030	0.0016	0.0044	0.0492	0.0029	0.0029	0.0480	0.0475	8.995e-05	2.266e-05	0	7.608e-05	0	0.0011	2.614e-05	0.0027	0.0492	0.0016	0.0016	0.0008	0.0024	0.0478	0.0014	0.0013	0.0428	0.0408	2.405e-05	0	6.531e-05	0	0	0	0	5.88e-05	0	0.0478	0.107	0.31532	T	0.238	0.26883	T	0.059	0.23051	B	0.01	0.14941	B	0.003440	0.00962	U	7.488640	1	0.08975	N	0	0.06538	N	-2.23	0.87116	D	-0.24	0.10833	N	0.118	0.16725	-0.6776	0.61483	T	0.472	0.79695	T	10	0.0021557212	0.00031	T	.	.	.	0.153	0.40148	.	.	0.326837869879	0.32287	0.45676338605830935	0.45594	0.131275834207	0.14802	0.56387925148	0.47814	T	0.30898	0.68104	T	-0.510571	0.00498	T	-0.46967	0.25551	T	0.019357977659414	0.00641	T	0.69603	0.30552	T	0.018504947	0.00372	0.032938555	0.02107	0.018504947	0.00372	0.032938555	0.02107	-4.43	0.30375	T	.	.	0.107	0.24430	B	.;.;.;.	.;.;.;.	1.513630	0.19439	14.27	0.98669726419817561	0.44456	0.08904	0.14761	N	AEFGBI	0.154966	0.28008	N	-0.882288864929286	0.11264	0.5426504	-0.934567794485916	0.11282	0.5737955	0.999910686964956	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.459711	0.06710	0	0.699875	0.68795	0	.	.	4.25	0.913	0.18482	0.078000	0.14615	1.085000	0.23927	-0.168000	0.11412	0.000000	0.06391	0.002000	0.18203	0.074000	0.16894	0.2008:0.2212:0.4557:0.1223	2.468	0.04279	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008612	0.005051	0.000000	0.005952	0.000000	0.008621	0.006173	0.037879	0.05	1512.43	96	chr9	137022743	.	G	A	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=499;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-2.038;SOR=0.548	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1524,0,947	9	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:90,44:134:99:197,0,1414	3	0	7	0
chr10	3135825	3135825	C	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323070:exon15:c.C1411A:p.Q471K,PFKP:NM_001323074:exon16:c.C1564A:p.Q522K,PFKP:NM_001323073:exon17:c.C1564A:p.Q522K,PFKP:NM_001323068:exon20:c.C2059A:p.Q687K,PFKP:NM_001323067:exon21:c.C2131A:p.Q711K,PFKP:NM_001323069:exon21:c.C1705A:p.Q569K,PFKP:NM_001345944:exon21:c.C2098A:p.Q700K,PFKP:NM_002627:exon21:c.C2212A:p.Q738K,PFKP:NM_001323071:exon22:c.C2098A:p.Q700K,PFKP:NM_001323072:exon22:c.C2098A:p.Q700K,PFKP:NM_001242339:exon23:c.C2188A:p.Q730K	.	434	1047	39	2	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0016	0.00638978	0.0034	0.0005	0.0045	0	0	0.0019	0.0044	0.0136	0.0032665	505	154602	rs1804254	0.0023	0.0023	0.0018	0.0027	0.0139	0.0022	0.0022	0.0133	0.0130	0.0003	0.0046	0.0020	0	0.0002	0.0099	0.0014	0.0032	0.0139	0.0023	0.0023	0.0021	0.0026	0.0135	0.0021	0.0020	0.0109	0.0099	0.0005	0	0.0078	0.0014	0.0002	0	0.0102	0.0019	0.0076	0.0135	0.281	0.18691	T	0.279	0.21745	T	0.0	0.02946	B	0.0	0.01387	B	0.001530	0.38731	N	0.282681	0.97893	0.25216	N	1.56	0.39490	L	-1.28	0.79475	T	-1.09	0.38151	N	0.214	0.31478	-1.0157	0.25110	T	0.025	0.10866	T	10	0.007251948	0.00165	T	.	.	.	0.169	0.43123	.	.	0.617109349803	0.61401	0.5715476712037727	0.57082	0.245553725906	0.27076	0.319565057755	0.13355	T	0.189656	0.54395	T	-0.397201	0.02415	T	-0.331652	0.41285	T	0.00488657485751936	0.00052	T	0.645735	0.26930	T	0.1270293	0.29737	0.08154157	0.18539	0.1270293	0.29737	0.08154157	0.18539	-8.362	0.64852	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	1.951134	0.24781	16.52	0.89643019086762443	0.18974	0.76491	0.37519	D	AEFBCI	0.273064	0.38855	N	-0.549113492516175	0.20512	1.081822	-0.551418355968868	0.20768	1.120472	0.998767270567485	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.92	0.742	0.17490	2.628000	0.46143	0.622000	0.20140	-0.153000	0.12021	0.999000	0.42656	0.005000	0.19230	0.465000	0.28230	0.1415:0.2524:0.6061:0.0	7.799	0.28328	976	0.04745	.;.;.	.	.	.	.	.	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	0.009082	0.000000	0.001362	0.020468	0.000000	0.008621	0.009202	0.018939	0.05	636.43	34	chr10	3135825	.	C	A	636.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.097;DP=375;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.983;SOR=0.906	GT:AD:DP:GQ:PL	0/1:32,29:61:99:648,0,787	9	0	1	0
chr10	5499232	5499232	G	C	exonic	CALML5	.	nonsynonymous SNV	CALML5:NM_017422:exon1:c.C207G:p.F69L	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0497921931777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.033	0.53072	D	0.978	0.58756	D	0.833	0.59784	P	0.000011	0.62929	D	0.000000	0.999785	0.49076	D	2.52	0.73523	M	-0.08	0.63911	T	-5.47	0.85617	D	0.421	0.46086	-0.1648	0.78554	T	0.395	0.74829	T	10	0.600996	0.66911	D	0.049792	0.63967	D	0.378	0.69612	0.657	0.79482	0.727167931094	0.72474	0.9822709912084889	0.98219	1.54857929197	0.87861	0.604382693768	0.53523	T	0.37122	0.73563	T	0.145422	0.68839	D	-0.0288873	0.68443	D	0.962658405303955	0.66431	D	0.978102	0.92255	D	0.768052	0.81931	0.6434286	0.79159	0.768052	0.81933	0.6434286	0.79160	-9.176	0.68823	D	.	.	0.985	0.92256	P	.	.	2.883841	0.38170	20.7	0.99790268386006054	0.87572	0.95084	0.63379	D	AEFBI	0.395734	0.47248	N	0.396867903672992	0.61251	4.323827	0.263552081576528	0.53424	3.511469	0.998676544095768	0.37434	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.6	3.69	0.41483	3.243000	0.51090	5.606000	0.49040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0933:0.0:0.9067:0.0	10.567	0.44365	794	0.45591	EF-hand domain|EF-hand domain|EF-hand 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	.	.	.	.	.	.	.	.	0.05	1334.43	129	chr10	5499232	.	G	C	1334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.658;DP=699;ExcessHet=0;FS=4.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.886;SOR=0.728	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1346,0,1514	9	0	1	0
chr10	11852196	11852196	G	A	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon2:c.G119A:p.R40H	.	430	1077	14	1	0	16	0.00737327	.	.	.	712187	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.226	.	0.0049	0.00339457	0.0039	0.0008	0.0018	0	0.0020	0.0056	0.0079	0.0031	0.004062	628	154602	rs148688412	0.0058	0.0058	0.0059	0.0057	0.0068	0.0057	0.0057	0.0067	0.0067	0.0009	0.0022	0.0021	2.531e-05	0.0016	0.0068	0.0068	0.0047	0.0034	0.0041	0.0041	0.0045	0.0037	0.0069	0.0038	0.0037	0.0064	0.0062	0.0011	0	0.0036	0.0023	0	0.0017	0.0136	0.0069	0.0043	0.0033	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.001621	0.38439	N	0.000000	0.937756	0.26882	N	1.995	0.54099	M	0.65	0.52642	T	-1.39	0.69357	N	0.458	0.49874	-0.7862	0.55950	T	0.156	0.48721	T	10	0.008751839	0.00198	T	.	.	.	0.226	0.52472	.	.	0.456738291233	0.45297	0.1937427559194585	0.19292	1.14202095503	0.78959	0.490397691727	0.37494	T	0.075242	0.42976	T	-0.391807	0.02619	T	-0.329324	0.41544	T	0.0203466986659711	0.00734	T	0.840716	0.51609	T	0.10595122	0.25051	0.0660861	0.13486	0.10595122	0.25051	0.0660861	0.13485	-4.494	0.31162	T	.	.	0.201	0.42462	B	.;.;.	.;.;.	4.573835	0.72187	25.8	0.9989447972476122	0.96742	0.88270	0.48122	D	AEFDBI	0.372307	0.45800	N	0.295864306804487	0.55938	3.758007	0.204449357542239	0.50094	3.205081	0.0655128867257868	0.15363	0.562547	0.31514	0	0.610034	0.51514	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.51	4.61	0.56724	4.669000	0.61269	4.394000	0.43224	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.046000	0.14843	0.0925:0.0:0.9075:0.0	10.161	0.42024	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.007576	0.05	818.43	34	chr10	11852196	.	G	A	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.868;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,34:76:99:830,0,950	9	0	1	0
chr10	12097966	12097966	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon8:c.G1641A:p.M547I	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	8	1508	5	1	0	7	0.00231558	.	.	.	712197	Inborn_genetic_diseases|not_provided|2-aminoadipic_2-oxoadipic_aciduria|DHTKD1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00239617	0.0011	0	0	0	0	4.528e-05	0	0.0080	0.0009185	142	154602	rs561793789	0.0006	0.0006	0.0004	0.0008	0.0088	0.0005	0.0005	0.0083	0.0080	0	0	0	5.043e-05	0	0.0005	4.591e-05	0.0004	0.0088	0.0003	0.0003	0.0002	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0095	0.919	0.02315	T	0.615	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.001796	0.37998	N	0.338572	0.976812	0.39310	D	0.055	0.08163	N	3.68	0.04151	T	0.99	0.01428	N	0.283	0.32037	-0.9036	0.47606	T	0.010	0.03627	T	10	0.008712381	0.00197	T	.	.	.	0.057	0.16321	0.382	0.39970	0.115124310173	0.11017	0.45878871963889706	0.45796	0.125106345075	0.14101	0.338500529528	0.16214	T	2.96E-4	0.00073	T	-0.594206	0.00158	T	-0.621044	0.11103	T	0.00358983247420314	0.00038	T	0.811819	0.46320	T	0.06356776	0.13397	0.06767862	0.14035	0.0817603	0.18801	0.077568375	0.17293	-6.928	0.53507	T	0.09961865830293468	0.07256	0.154	0.34183	B	.	.	0.072865	0.04809	1.415	0.56396157080526144	0.05543	0.91401	0.53459	D	AEFDBHIJ	0.584361	0.58322	D	-0.548287536112522	0.20538	1.083387	-0.399089813346918	0.25024	1.373761	0.997384729837249	0.35561	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.47	3.6	0.40374	1.331000	0.33398	1.566000	0.27387	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.495000	0.28905	0.1397:0.0:0.8603:0.0	12.308	0.54237	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1487.43	33	chr10	12097966	.	G	A	1487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.643;DP=465;ExcessHet=0;FS=4.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.42;SOR=1.225	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1499,0,1267	9	0	1	0
chr10	17590378	17590378	C	G	exonic	HACD1	.	nonsynonymous SNV	HACD1:NM_014241:exon7:c.G853C:p.E285Q	.	.	.	.	.	.	.	.	.	.	.	1291989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.011016059543	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs556888412	4.851e-05	4.857e-05	2.07e-05	7.654e-05	0.0008	3.91e-05	3.586e-05	0.0007	0.0006	0	0	0	0	0	0	9.096e-07	0	0.0008	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.018	0.50676	D	0.021	0.58089	D	0.965	0.56013	D	0.608	0.51027	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.1	0.28011	L	2.6	0.13204	T	-0.71	0.20145	N	0.414	0.45426	-1.1818	0.00344	T	0.052	0.22269	T	10	0.13125339	0.24980	T	0.011016	0.28208	T	0.140	0.37593	0.205	0.12076	0.289847578895	0.28608	0.5755462287705388	0.57483	0.907024850902	0.70884	0.753566265106	0.74973	T	0.010	0.08729	T	-0.353714	0.04498	T	-0.365135	0.37457	T	0.281701526701767	0.24243	T	0.909409	0.67928	D	0.3738103	0.58865	0.26701367	0.52553	0.3738103	0.58865	0.26701367	0.52552	-3.949	0.23038	T	.	.	0.181	0.39373	B	.	.	4.727091	0.76104	26.5	0.99834893137717506	0.91628	0.97692	0.76450	D	AEFBI	0.789713	0.71882	D	0.508155765928929	0.67570	5.099399	0.55451657047578	0.71710	5.696824	0.999999968892503	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.37	5.37	0.76949	7.373000	0.78878	7.617000	0.62147	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.109	0.93294	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1189.43	33	chr10	17590378	.	C	G	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.089;DP=433;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.973;SOR=0.808	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1201,0,1505	9	0	1	0
chr10	17978038	17978038	A	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon4:c.A486T:p.E162D,SLC39A12:NM_001145195:exon5:c.A888T:p.E296D,SLC39A12:NM_001282733:exon5:c.A888T:p.E296D,SLC39A12:NM_152725:exon5:c.A888T:p.E296D	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00798361731117	7.7e-05	0.000998403	0.0006	0	0.0002	0	0	0.0004	0	0.0024	0.0005175	80	154602	rs202242091	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0017	0.0014	6.073e-05	0.0004	0.0057	0	0	0.0028	0.0002	0.0010	0.0017	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	2.404e-05	0	0.0002	0.0075	0	0	0	0.0003	0.0005	0.0021	0.951	0.02141	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.04355	B	0.028645	0.01689	N	1.983260	1	0.08975	N	-2.095	0.00157	N	0.06	0.61798	T	0.3	0.05125	N	0.031	0.01577	-0.9358	0.43272	T	0.056	0.23527	T	10	0.005045712	0.00109	T	0.007984	0.21162	T	0.109	0.30843	0.19	0.10039	0.0401082797425	0.02173	0.20638731976366811	0.20555	0.0222565506231	0.02237	0.287380576134	0.08542	T	2.96E-4	0.00073	T	-0.605244	0.00135	T	-0.647716	0.09115	T	0.00427038519792982	0.00046	T	0.391261	0.11053	T	0.036992066	0.04657	0.03861889	0.03770	0.036992066	0.04656	0.03861889	0.03770	-4.182	0.27241	T	.	.	0.07	0.05404	B	.;.;.;.	.;.;.;.	0.109391	0.05093	1.626	0.052774537234606768	0.00010	0.01333	0.04593	N	AEI	0.018378	0.00552	N	-1.42344569768891	0.02433	0.1074706	-1.31432698951177	0.04244	0.199779	7.06075297900698E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	1.79	0.23992	0.344000	0.19703	0.109000	0.14755	-0.174000	0.10959	0.875000	0.30889	0.020000	0.20764	0.008000	0.08271	0.2063:0.4622:0.1962:0.1353	1.828	0.02935	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.000000	0.05	1091.43	35	chr10	17978038	.	A	T	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.548;DP=403;ExcessHet=0;FS=5.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.375;SOR=0.882	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1103,0,1216	9	0	1	0
chr10	20850403	20850403	G	T	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon11:c.C1108A:p.Q370K	.	424	1095	3	0	0	3	0.00136799	.	.	.	174910	NEBL-related_disorder|Primary_dilated_cardiomyopathy|not_specified|not_provided	.|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:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0216128339977	7.7e-05	0.00179712	0.0010	0	0.0004	0	0	2.998e-05	0.0011	0.0071	0.0008861	137	154602	rs146198369	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0063	0.0061	3.023e-05	0.0002	0	0	0	0.0003	7.298e-06	0.0004	0.0067	0.0002	0.0002	6.426e-05	0.0004	0.0058	0.0002	0.0001	0.0041	0.0036	4.813e-05	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0058	0.046	0.40573	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.058798	0.995737	0.81001	D	2.8	0.81625	M	0.55	0.54728	T	-3.65	0.69950	D	0.487	0.52119	-0.4560	0.70201	T	0.363	0.72392	T	10	0.011808008	0.00256	T	0.021613	0.44401	T	0.337	0.65913	.	.	0.766946779454	0.76481	0.557365075604494	0.55663	0.0265551599437	0.02714	0.451260536909	0.32116	T	0.16956	0.51698	T	-0.268728	0.11899	T	-0.1552	0.58781	T	0.138007782088624	0.16102	T	0.823718	0.48487	T	0.64151233	0.74911	0.5388201	0.73348	0.64151233	0.74913	0.5388201	0.73348	-10.611	0.77482	D	.	.	0.214	0.44319	B	.	.	4.500152	0.70371	25.5	0.99611285375241365	0.74813	0.96165	0.67831	D	AEFBI	0.920168	0.89174	D	0.819177012656322	0.87289	9.166998	0.785567970590627	0.88770	9.709588	0.570458699236882	0.21488	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	7.621000	0.82276	9.796000	0.81670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.029	0.89200	907	0.22727	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	607.43	34	chr10	20850403	.	G	T	607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.792;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.965;SOR=0.623	GT:AD:DP:GQ:PL	0/1:43,31:74:99:619,0,1069	9	0	1	0
chr10	26125598	26125598	T	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon19:c.T2104G:p.S702A	Deafness, autosomal recessive 30, Autosomal recessive	7	1511	4	0	0	4	0.00132188	.	.	YES	1988900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0229521273118	.	.	5.783e-05	9.792e-05	0	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs758171932	3.216e-05	3.215e-05	8.169e-06	5.639e-05	0.0005	2.478e-05	2.221e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.799e-06	6.625e-05	0.0005	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0004	5.23e-06	2.45e-06	7.285e-05	3.027e-05	0	0	6.534e-05	0	0	0	0	0	0	0.0004	0.332	0.13045	T	0.678	0.06147	T	0.0	0.02946	B	0.002	0.06944	B	0.085735	0.20625	N	0.575546	1	0.08975	N	0.62	0.15745	N	-0.63	0.72011	T	-0.7	0.19933	N	0.106	0.09066	-1.0165	0.24852	T	0.144	0.46660	T	10	0.0228225	0.00580	T	0.022952	0.45881	T	0.043	0.11576	0.335	0.32329	0.534477653248	0.53097	0.11028506784974909	0.10957	0.0531325948956	0.05856	0.272852361202	0.06516	T	0.170821	0.51871	T	-0.462094	0.00954	T	-0.585386	0.14067	T	0.0219986741315982	0.00909	T	0.346965	0.07635	T	0.10343093	0.24448	0.051148616	0.08171	0.10343093	0.24448	0.051148616	0.08171	-4.559	0.31652	T	0.07186686622719829	0.02898	0.064	0.01762	B	.;.	.;.	1.162091	0.15510	11.90	0.96471606022202361	0.29939	0.05786	0.11720	N	AEFHCI	0.052476	0.09368	N	-0.956589420107716	0.09546	0.4522302	-0.923630496004498	0.11537	0.5883548	4.00698371712527E-5	0.03775	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.77	-1.18	0.09122	0.504000	0.22335	-0.082000	0.12165	0.609000	0.47794	0.010000	0.18352	0.000000	0.08366	0.995000	0.73285	0.5153:0.0:0.3597:0.125	6.419	0.20934	870	0.31527	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	584.43	35	chr10	26125598	.	T	G	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.568;DP=403;ExcessHet=0;FS=0.914;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=-1.784;SOR=0.833	GT:AD:DP:GQ:PL	0/1:65,28:93:99:596,0,1749	9	0	1	0
chr10	29524522	29524522	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon12:c.A1258G:p.M420V,SVIL:NM_001323600:exon13:c.A1354G:p.M452V,SVIL:NM_021738:exon14:c.A2536G:p.M846V,SVIL:NM_001323599:exon15:c.A1606G:p.M536V	.	430	1087	4	1	0	6	0.00275229	.	.	.	3482027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0161891281737	.	0.000199681	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs558528820	5.472e-05	5.472e-05	3.675e-05	7.288e-05	0.0007	4.477e-05	4.147e-05	0.0006	0.0005	0	0	0	0	0	0	1.439e-05	1.656e-05	0.0007	3.282e-05	3.281e-05	2.57e-05	4.027e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.178	0.45039	T	0.241	0.24334	T	0.452	0.36118	B	0.228	0.38116	B	0.002089	0.37271	N	0.368951	0.670736	0.35442	D	2.535	0.73915	M	1.01	0.41058	T	-1.44	0.35399	N	0.137	0.20129	-0.9775	0.35571	T	0.124	0.42862	T	9	0.033263087	0.01497	T	0.016189	0.37323	T	0.082	0.23913	0.194	0.10571	0.395439683604	0.39153	0.2015748252049481	0.20074	0.24203767253	0.26720	0.352267980576	0.18255	T	0.050125	0.28506	T	-0.375607	0.03319	T	-0.377065	0.36066	T	0.158927515149117	0.17792	T	0.79512	0.59406	T	0.27394497	0.50461	0.1667892	0.38514	0.22764221	0.45468	0.18479586	0.41552	-7.555	0.57996	D	0.12657493725915436	0.12806	0.129	0.27493	B	.;.;.	.;.;.	2.683793	0.35018	19.79	0.98165743215205348	0.38814	0.67078	0.33303	D	AEFGBI	0.203697	0.33018	N	-0.0940136232520726	0.37654	2.193861	-0.00568079057331083	0.39457	2.339862	0.998742813795459	0.37581	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	1.383000	0.33992	2.890000	0.35384	0.665000	0.62972	0.681000	0.28448	1.000000	0.68203	0.926000	0.46234	0.1307:0.0:0.0:0.8693	11.870	0.51795	968	0.07033	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1539.43	39	chr10	29524522	.	T	C	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=465;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.11;SOR=0.805	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1551,0,1755	9	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	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	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.05	664.43	45	chr10	29533429	.	T	C	664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:34,28:62:99:676,0,912	9	0	1	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L,ZNF33A:NM_001324178:exon4:c.C827T:p.P276L,ZNF33A:NM_001278177:exon5:c.C869T:p.P290L,ZNF33A:NM_001278178:exon5:c.C470T:p.P157L,ZNF33A:NM_001324176:exon5:c.C470T:p.P157L,ZNF33A:NM_006954:exon5:c.C806T:p.P269L,ZNF33A:NM_006974:exon5:c.C803T:p.P268L,ZNF33A:NM_001278171:exon6:c.C470T:p.P157L,ZNF33A:NM_001278173:exon6:c.C860T:p.P287L,ZNF33A:NM_001278174:exon6:c.C470T:p.P157L,ZNF33A:NM_001278175:exon6:c.C572T:p.P191L,ZNF33A:NM_001278176:exon6:c.C677T:p.P226L,ZNF33A:NM_001278179:exon6:c.C470T:p.P157L,ZNF33A:NM_001324175:exon6:c.C470T:p.P157L,ZNF33A:NM_001324177:exon6:c.C470T:p.P157L	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	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	0.009577	0.000000	0.004076	0.011696	0.000000	0.017241	0.012195	0.030303	0.05	1278.43	34	chr10	38054930	.	C	T	1278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=576;ExcessHet=0;FS=3.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.528;SOR=1.02	GT:AD:DP:GQ:PL	0/1:81,50:131:99:1290,0,1990	9	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.1	1338.14	33	chr10	42820245	.	G	A	1338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=382;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.28;SOR=0.777	GT:AD:DP:GQ:PL	0/1:29,29:58:99:701,0,715	8	0	2	0
chr10	46308581	46308581	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001354208:exon14:c.A65G:p.H22R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs138235353	0.0040	0.0023	0.0044	0.0036	0.0061	0.0038	0.0037	0.0058	0.0056	0.0008	0.0035	0.0006	0	0.0013	0.0025	0.0061	0.0035	0.0008	0.0036	0.0036	0.0036	0.0035	0.0062	0.0033	0.0032	0.0058	0.0056	0.0009	0	0.0028	0.0006	0	0.0014	0	0.0062	0.0066	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	453.43	32	chr10	46308581	.	A	G	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.099;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.868;SOR=0.917	GT:AD:DP:GQ:PL	0/1:15,20:35:99:465,0,404	9	0	1	0
chr10	46580201	46580203	GCT	-	exonic	SYT15	.	nonframeshift deletion	SYT15:NM_031912:exon2:c.45_47del:p.L21del,SYT15:NM_181519:exon2:c.45_47del:p.L21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368995487	0.0006	0.0030	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0007	0.0002	0.0007	0.0007	0.0006	0.0006	0.0008	7.767e-06	2.06e-05	0	1.606e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	66.4	10	chr10	46580200	.	GGCT	G	66.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=176;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:73:78,0,73	9	0	1	0
chr10	62091817	62091817	G	A	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon7:c.G1625A:p.R542H,ARID5B:NM_032199:exon10:c.G2354A:p.R785H	.	431	1090	1	0	0	1	0.000458505	.	.	.	3290075	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0147532612629	0.0002	.	5.794e-05	9.722e-05	0	0	0	9.037e-05	0	0	5.17e-05	8	154602	rs369904878	4.036e-05	4.036e-05	4.356e-05	3.713e-05	6.709e-05	3.179e-05	2.91e-05	3.717e-05	3.371e-05	2.987e-05	6.709e-05	0	2.519e-05	0	0	4.766e-05	0	1.159e-05	5.918e-05	5.911e-05	2.571e-05	9.421e-05	9.661e-05	3.079e-05	2.212e-05	3.251e-05	1.916e-05	9.661e-05	0	0	0	0	0	0	7.353e-05	0	0	0.019	0.51248	D	0.042	0.50226	D	1.0	0.90584	D	0.869	0.61749	P	0.001299	0.39521	N	0.291907	0.982138	0.39856	D	1.7	0.43825	L	0.79	0.49358	T	-0.14	0.10308	N	0.351	0.53708	-0.6493	0.62745	T	0.261	0.63197	T	10	0.22848451	0.39754	T	0.014753	0.35069	T	0.192	0.47115	.	.	0.52517700028	0.52164	0.19675383391796425	0.19592	1.1501580295	0.79175	0.381748616695	0.22505	T	0.105637	0.41628	T	-0.166442	0.25775	T	-0.285176	0.46272	T	0.284593254327774	0.24364	T	0.931907	0.74605	D	0.06534633	0.13955	0.048889853	0.07357	0.06534633	0.13954	0.048889853	0.07357	-2.135	0.04452	T	.	.	0.083	0.09239	B	.;.	.;.	4.062587	0.60295	24.2	0.99936081608605309	0.99621	0.92865	0.56736	D	AEFDBCI	0.599065	0.59222	D	0.713047308910999	0.80486	7.305178	0.729558892147269	0.84622	8.343805	0.999999996014154	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	5.034000	0.63942	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	20.203	0.98271	718	0.55760	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1726.43	40	chr10	62091817	.	G	A	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=511;ExcessHet=0;FS=4.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.72;SOR=0.45	GT:AD:DP:GQ:PL	0/1:112,76:188:99:1738,0,2644	9	0	1	0
chr10	67932719	67932719	C	T	exonic	HERC4	.	nonsynonymous SNV	HERC4:NM_001278186:exon21:c.G1951A:p.D651N,HERC4:NM_001278185:exon22:c.G2506A:p.D836N,HERC4:NM_015601:exon23:c.G2716A:p.D906N,HERC4:NM_022079:exon24:c.G2740A:p.D914N	.	438	1071	13	0	0	13	0.00603248	.	.	.	2813212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.0103922967129	0.0022	0.00179712	0.0023	0.0002	0.0015	0	0.0038	0.0028	0.0022	0.0030	0.0022315	345	154602	rs143083420	0.0020	0.0020	0.0019	0.0021	0.0094	0.0019	0.0019	0.0074	0.0067	0.0009	0.0018	0.0018	0	0.0036	0.0094	0.0019	0.0024	0.0031	0.0023	0.0023	0.0022	0.0024	0.0033	0.0021	0.0020	0.0026	0.0024	0.0004	0	0.0033	0.0014	0.0002	0.0056	0.0068	0.0029	0.0038	0.0027	0.51	0.09022	T	0.406	0.14725	T	0.002	0.28337	B	0.007	0.26602	B	0.000415	0.44736	D	0.247346	1	0.81001	D	0.455	0.12820	N	0.99	0.41750	T	-0.5	0.19720	N	0.255	0.33578	-1.0692	0.09590	T	0.037	0.16029	T	10	0.009596795	0.00216	T	0.010392	0.26871	T	0.023	0.04649	.	.	0.355939216326	0.35206	0.46415274412787255	0.46334	0.757234347929	0.64067	0.597243189812	0.52516	T	0.103046	0.41134	T	-0.535133	0.00358	T	-0.544822	0.17825	T	0.00887822571060076	0.00110	T	0.928707	0.73951	D	0.059079804	0.11963	0.044510372	0.05784	0.059079804	0.11962	0.044510372	0.05784	-4.208	0.46003	T	.	.	0.072	0.32804	B	.;.;.;.	.;.;.;.	3.634816	0.51511	23.1	0.9927475862470031	0.57696	0.89966	0.50785	D	AEFBI	0.253322	0.37284	N	-0.204332749030752	0.32955	1.864328	0.0277336971184661	0.41008	2.456526	0.577088679724747	0.21540	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	2.430000	0.44424	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8342:0.0:0.1658	9.464	0.37965	899	0.25060	.;.;HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.008152	0.002924	0.000000	0.017241	0.012195	0.003788	0.05	739.43	34	chr10	67932719	.	C	T	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.322;DP=399;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.786;SOR=1.004	GT:AD:DP:GQ:PL	0/1:17,30:47:99:751,0,367	9	0	1	0
chr10	70539176	70539176	G	A	exonic	PALD1	.	nonsynonymous SNV	PALD1:NM_014431:exon14:c.G1654A:p.V552M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0408433486394	0.0021	0.00159744	0.0006	0.0063	0.0002	0.0005	0	6.842e-05	0	0	0.0004916	76	154602	rs115220270	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0003	0.0057	0.0054	0.0064	0.0003	0	0.0003	0	0.0002	0.0002	0.0005	2.323e-05	0.0018	0.0018	0.0019	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0064	0	0.0003	0	0.0002	0	0	7.35e-05	0	0.0002	0.028	0.46129	D	0.004	0.74150	D	0.988	0.62325	D	0.551	0.49270	P	0.000531	0.43581	D	0.201097	0.999633	0.47961	D	2.6	0.76081	M	1.34	0.34841	T	-2.27	0.50666	N	0.466	0.50237	-0.8217	0.53827	T	0.112	0.40052	T	10	0.010147005	0.00227	T	0.040843	0.59602	D	0.223	0.52023	.	.	0.499535901811	0.49588	0.7828160239646846	0.78232	0.473943724197	0.46597	0.652560949326	0.60350	T	0.177406	0.52769	T	-0.374605	0.03367	T	-0.306725	0.44009	T	0.0814520629611187	0.10172	T	0.856214	0.54490	D	0.08993892	0.21030	0.14013094	0.33412	0.08993892	0.21029	0.14013094	0.33411	-7.275	0.56017	T	.	.	0.222	0.45273	B	.	.	3.725032	0.53253	23.3	0.99727860007408908	0.82549	0.96084	0.67460	D	AEFDBI	0.593070	0.58853	D	0.355680717956027	0.59040	4.080311	0.24077454128491	0.52128	3.389616	0.999999591916593	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.52	3.61	0.40494	7.466000	0.79932	5.760000	0.49678	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.092:0.0:0.908:0.0	10.669	0.44942	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1172.43	41	chr10	70539176	.	G	A	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=444;ExcessHet=0;FS=4.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.633;SOR=1.21	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1184,0,863	9	0	1	0
chr10	73772394	73772394	G	A	exonic	FUT11	.	nonsynonymous SNV	FUT11:NM_001284194:exon1:c.G61A:p.A21T,FUT11:NM_173540:exon1:c.G61A:p.A21T	.	396	1113	11	2	0	15	0.00669344	.	.	.	2734024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0123797169567	0.0005	.	0.0014	0.0002	0.0011	0.0002	0.0015	0.0017	0	0.0018	0.0007503	116	154602	rs144665547	0.0007	0.0007	0.0006	0.0008	0.0024	0.0007	0.0006	0.0017	0.0016	6.68e-05	0.0008	0.0001	0	0.0005	0.0024	0.0006	0.0010	0.0019	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0.0003	0	0.0003	0.0034	0.0008	0.0005	0.0008	0.205	0.20002	T	0.46	0.13140	T	0.001	0.07471	B	0.001	0.04355	B	0.201762	0.16582	N	0.626541	1	0.08975	N	0.895	0.22405	L	1.2	0.37405	T	-0.37	0.13226	N	0.145	0.14622	-1.0249	0.22116	T	0.036	0.15683	T	10	0.01172626	0.00255	T	0.01238	0.30901	T	0.015	0.02232	.	.	0.176091768786	0.17195	0.3454220110100522	0.34456	0.291643175406	0.31571	0.528488337994	0.42821	T	0.015517	0.12998	T	-0.570507	0.00220	T	-0.632804	0.10203	T	0.00400266535812665	0.00042	T	0.681532	0.29028	T	0.059129063	0.11979	0.08200375	0.18683	0.059129063	0.11979	0.08200375	0.18682	-5.346	0.40726	T	.	.	0.106	0.19720	B	.;.	.;.	1.268403	0.16667	12.69	0.95856582624535525	0.28008	0.17307	0.19780	N	ALL	0.098898	0.19918	N	-1.1188337232759	0.06308	0.2900389	-1.11774341410498	0.07361	0.357762	0.999999999942558	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.92	1.02	0.19102	1.271000	0.32700	5.218000	0.47990	0.618000	0.50648	0.004000	0.16614	0.999000	0.35428	0.053000	0.15439	0.1955:0.1669:0.6376:0.0	5.526	0.16249	552	0.72024	.;.	.	.	.	.	.	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	0.004573	0.005376	0.002725	0.005848	0.000000	0.008621	0.003086	0.007576	0.05	577.43	34	chr10	73772394	.	G	A	577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.657;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.24;SOR=0.664	GT:AD:DP:GQ:PL	0/1:26,23:49:99:589,0,643	9	0	1	0
chr10	75235684	75235684	T	C	exonic	COMTD1	.	nonsynonymous SNV	COMTD1:NM_144589:exon2:c.A154G:p.S52G	.	433	1069	18	2	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.046977043092	0.0003	0.000998403	0.0024	0.0003	0.0071	0	0	0.0017	0.0086	0.0037	0.0012419	192	154602	rs200334065	0.0011	0.0011	0.0010	0.0012	0.0080	0.0010	0.0010	0.0061	0.0055	0.0002	0.0029	3.885e-05	2.571e-05	0.0001	0.0080	0.0010	0.0015	0.0030	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0007	0.0008	0.0008	0.0005	0	0.0012	0	0	0	0.0102	0.0010	0.0024	0.0014	0.172	0.22660	T	0.239	0.24477	T	0.403	0.34918	B	0.031	0.21939	B	0.000305	0.45977	D	0.254671	0.996335	0.23046	N	1.67	0.42885	L	-0.53	0.70833	T	-0.94	0.25118	N	0.271	0.30687	-0.9326	0.43755	T	0.155	0.48670	T	10	0.007448137	0.00169	T	0.046977	0.62709	D	0.054	0.15330	.	.	0.772796092587	0.77070	0.4309459188616709	0.43011	0.385891351295	0.39878	0.464715868235	0.33956	T	0.09514	0.39561	T	-0.502747	0.00552	T	-0.497989	0.22555	T	0.0113847863134919	0.00170	T	0.517648	0.16760	T	0.26779887	0.49852	0.09805693	0.23365	0.26779887	0.49852	0.09805693	0.23364	-4.625	0.32484	T	.	.	0.107	0.20117	B	.	.	2.017661	0.25641	16.83	0.97972297565841349	0.37261	0.80462	0.40093	D	AEFDGBHCI	0.135922	0.25642	N	-0.228388186074571	0.31973	1.798296	-0.118941844953823	0.34625	1.99395	0.999999999979343	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	5.29	2.53	0.29594	1.296000	0.32994	1.713000	0.28208	-0.222000	0.07959	0.878000	0.30948	0.984000	0.30665	0.172000	0.21044	0.0:0.1056:0.1831:0.7112	5.244	0.14806	19	0.98577	.	.	.	.	.	.	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	0.005635	0.010989	0.005479	0.002976	0.000000	0.000000	0.006289	0.003817	0.1	631.14	34	chr10	75235684	.	T	C	631.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=345;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.389;SOR=0.852	GT:AD:DP:GQ:PL	0/1:20,11:31:99:214,0,434	8	0	2	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015222	0.012346	0.020202	0.016234	0.000000	0.058140	0.014925	0.004310	0.05	419.39	35	chr10	75401348	.	T	TCCG	419.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.902;DP=370;ExcessHet=0;FS=1.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.22;SOR=0.454	GT:AD:DP:GQ:PL	0/1:31,13:44:99:431,0,1092	9	0	1	0
chr10	87228389	87228389	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.C509T:p.A170V	.	430	1082	10	0	0	10	0.00459982	.	.	.	2330951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00147455499033	.	0.000399361	0.0008	0.0001	0.0004	0	0	0.0009	0.0022	0.0014	0.0001153	3	26028	rs527666213	0.0007	0.0009	0.0007	0.0008	0.0036	0.0007	0.0007	0.0022	0.0018	2.994e-05	0.0006	0.0009	2.519e-05	0	0.0036	0.0007	0.0010	0.0016	0.0004	0.0006	0.0006	0.0003	0.0010	0.0004	0.0003	0.0006	0.0005	4.809e-05	0	0.0002	0.0006	0	0	0.0068	0.0007	0.0009	0.0010	1.0	0.00964	T	1.0	0.05380	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	0.8	0.01866	N	0.094	0.09349	-1.0111	0.26573	T	0.010	0.03811	T	9	0.009260714	0.00209	T	0.001475	0.02241	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.020935663021464664	0.02046	.	.	0.590347886086	0.51543	T	0.001446	0.00900	T	-0.603563	0.00139	T	-0.755322	0.03283	T	0.0168300335571351	0.00437	T	0.319468	0.06419	T	0.016922558	0.00232	0.033627883	0.02289	0.016922558	0.00232	0.033627883	0.02289	-4.27	0.29064	T	.	.	0.048	0.00254	B	.;.	.;.	-0.032650	0.04062	0.944	0.52768623389137248	0.04811	0.00016	0.00195	N	AEFI	0.013084	0.00162	N	-2.08028175829282	0.00141	0.006052522	-2.08012279870684	0.00206	0.009066223	5.46026951212881E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.29	-2.07	0.06873	-0.030000	0.12257	1.434000	0.26471	-0.628000	0.04523	0.000000	0.06391	0.006000	0.19429	0.001000	0.02609	0.0:0.3494:0.2422:0.4084	3.020	0.05703	925	0.17918	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000567	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	502.43	35	chr10	87228389	.	C	T	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.3;MQRankSum=1.19;QD=6.98;ReadPosRankSum=-0.704;SOR=0.646	GT:AD:DP:GQ:PL	0/1:47,25:72:99:514,0,1097	9	0	1	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.05	900.43	38	chr10	87862043	.	A	T	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=405;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.271;SOR=1.069	GT:AD:DP:GQ:PL	0/1:53,37:90:99:912,0,1397	9	0	1	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.05	946.43	38	chr10	87862096	.	T	C	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=385;ExcessHet=0;FS=1.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.779;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,27:75:99:0|1:87862096_T_C:958,0,1876:87862096	9	0	1	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.05	878.43	38	chr10	87862106	.	G	C	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=385;ExcessHet=0;FS=3.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.698;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,25:76:99:0|1:87862096_T_C:890,0,1965:87862096	9	0	1	0
chr10	97319674	97319674	C	T	exonic	FRAT1	.	nonsynonymous SNV	FRAT1:NM_005479:exon1:c.C221T:p.P74L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.862752119014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343682924	9.661e-07	1.368e-06	1.831e-06	0	1.121e-06	0	0	.	.	0	0	0	0	0	0	1.121e-06	0	0	6.687e-06	6.582e-06	0	1.371e-05	2.432e-05	0	0	.	.	2.432e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.142	0.33330	T	0.004	0.12183	B	0.003	0.08700	B	0.081512	0.20861	U	0.372474	0.959667	0.38139	D	2.395	0.69210	M	.	.	.	-1.99	0.45949	N	0.09	0.06854	-1.0114	0.26478	T	0.128	0.43564	T	9	0.22880891	0.39794	T	0.862752	0.98947	D	0.022	0.04323	0.523	0.62668	0.361958692863	0.35806	0.13345795935908836	0.13269	1.16437380331	0.79574	0.808966517448	0.83334	D	0.400096	0.75776	T	-0.216699	0.18445	T	-0.549049	0.17418	T	0.312675297260284	0.25523	T	0.539746	0.18256	T	0.071121365	0.15721	0.062873445	0.12368	0.071121365	0.15721	0.062873445	0.12368	-4.605	0.32234	T	.	.	0.124	0.26232	B	.	.	1.689009	0.21521	15.24	0.99670074457576863	0.78523	0.06365	0.12366	N	AEFDGBHCI	0.033058	0.03850	N	-0.841860823553425	0.12250	0.5960118	-0.911314467503411	0.11827	0.6049015	0.999997659249728	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.606884	0.38211	0	0.621717	0.48901	0	.	.	3.01	-0.116	0.12895	-1.287000	0.02893	.	.	0.431000	0.20936	0.000000	0.06391	.	.	0.027000	0.12703	0.2191:0.5469:0.0:0.234	3.006	0.05663	735	0.53711	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	208.45	16	chr10	97319674	.	C	T	208.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.473;DP=127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0546;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=-0.381;SOR=0.293	GT:AD:DP:GQ:PL	0/1:3,8:11:49:220,0,49	9	0	1	0
chr10	102141084	102141084	C	A	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C2576A:p.S859Y,PPRC1:NM_001288728:exon5:c.C2216A:p.S739Y,PPRC1:NM_015062:exon5:c.C2576A:p.S859Y	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.018205127813	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185536331	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.043	0.49942	D	0.641	0.40421	P	0.202	0.39405	B	0.835004	0.09077	N	0.911542	1	0.08975	N	1.355	0.33814	L	1.88	0.24285	T	-2.2	0.49519	N	0.217	0.24385	-1.0308	0.20195	T	0.042	0.18160	T	10	0.089156866	0.15417	T	0.018205	0.40197	T	0.025	0.05312	0.237	0.16760	0.0675242888579	0.06100	0.16109931744418524	0.16030	0.187294551966	0.21046	0.29803788662	0.10109	T	0.027033	0.40969	T	-0.321016	0.06815	T	-0.698894	0.05886	T	0.126854465043872	0.15088	T	0.766723	0.45286	T	0.027232766	0.01885	0.045443818	0.06116	0.027232766	0.01885	0.045443818	0.06115	-7.242	0.55782	T	.	.	0.136	0.29670	B	.;.	.;.	0.093227	0.04966	1.529	0.96586026258327984	0.30351	0.50947	0.28781	D	AEFBHCI	0.094411	0.19089	N	-0.682065657629735	0.16533	0.8431784	-0.744925271345311	0.15846	0.8354728	0.737498780099199	0.23155	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	1.03	0.19161	-0.789000	0.04714	-0.141000	0.11517	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1373:0.5203:0.0:0.3424	4.696	0.12186	666	0.61362	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2085.43	34	chr10	102141084	.	C	A	2085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.139;DP=518;ExcessHet=0;FS=1.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.985;SOR=0.826	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2097,0,2308	9	0	1	0
chr10	103054362	103054362	G	A	exonic	CNNM2	.	nonsynonymous SNV	CNNM2:NM_017649:exon3:c.G1799A:p.R600Q,CNNM2:NM_199076:exon3:c.G1799A:p.R600Q	Hypomagnesemia 6, renal, Autosomal dominant;Hypomagnesemia, seizures, and mental retardation, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0323649749583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	3.826e-05	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32769	T	0.146	0.33894	T	0.989	0.67487	D	0.691	0.62898	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.84	0.74265	T	-1.05	0.29933	N	0.454	0.50327	-0.2530	0.76279	T	0.463	0.79207	T	10	0.3389471	0.50990	T	0.032365	0.54212	D	0.365	0.68495	0.495	0.58363	0.161926535498	0.15789	0.6289722101350792	0.62830	.	.	0.831303715706	0.86762	D	0.037418	0.24468	T	0.160733	0.70268	D	-0.006895	0.69887	D	0.951495051383972	0.63574	D	0.906009	0.66877	D	0.19341995	0.41051	0.17058216	0.39179	0.19341995	0.41051	0.17058216	0.39178	-7.03	0.56487	T	0.1149536012604909	0.10231	0.217	0.50618	B	.;.	.;.	4.858077	0.79476	27.1	0.99845005151639976	0.92489	0.84102	0.43187	D	ALL	0.897798	0.84038	D	0.578942311969152	0.71862	5.715775	0.60177128487563	0.75068	6.245651	1.0	0.98316	0.706298	0.61202	0	0.093493	0.02558	3	0.709663	0.75317	0	0.604282	0.37693	0	.	.	6.03	6.03	0.97798	8.129000	0.89477	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:1.0:0.0	20.557	0.99307	528	0.73785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	854.43	33	chr10	103054362	.	G	A	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=423;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.405;SOR=0.561	GT:AD:DP:GQ:PL	0/1:60,40:100:99:866,0,1357	9	0	1	0
chr10	110821789	110821789	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon11:c.G3170A:p.R1057Q	Cardiomyopathy, dilated, 1DD, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	53172	not_provided|Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype|Cardiomyopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0007	0.0175719	0.0190	0.0028	0.0025	0.0371	0	0.0001	0.0083	0.0480	0.0036351	562	154602	rs188054898	0.0035	0.0034	0.0023	0.0048	0.0478	0.0035	0.0034	0.0465	0.0460	0.0003	0.0003	0.0001	0.0196	2.029e-05	0.0032	7.044e-05	0.0062	0.0478	0.0029	0.0029	0.0021	0.0038	0.0522	0.0027	0.0026	0.0469	0.0449	0.0007	0	0.0006	0	0.0267	0	0.0034	0.0002	0.0028	0.0522	1.0	0.00964	T	0.734	0.05090	T	.	.	.	.	.	.	0.194049	0.16770	N	0.522587	1	0.08975	N	.	.	.	-2.44	0.88767	D	0.64	0.02368	N	0.021	0.00339	-0.7578	0.57525	T	0.139	0.45753	T	10	0.0013362169	0.00014	T	.	.	.	0.143	0.38195	.	.	.	.	0.06356788003159516	0.06295	.	.	0.170280694962	0.00033	T	.	.	.	-0.534412	0.00362	T	-0.506114	0.21714	T	0.000142283328084959	0.00001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01834	B	.	.	-0.235982	0.02913	0.421	0.68220209598551618	0.08591	0.03039	0.07929	N	AEFBI	0.069250	0.13697	N	-1.29679585936069	0.03714	0.1664048	-1.19112917678938	0.06057	0.2904241	0.999949069522772	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.93	-4.26	0.03497	-0.258000	0.08754	-1.617000	0.05052	-0.153000	0.12021	0.016000	0.19238	0.000000	0.08366	0.808000	0.38083	0.593:0.1257:0.167:0.1143	4.144	0.09674	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003555	0.000000	0.000000	0.004425	0.000000	0.000000	0.005618	0.011905	0.05	2162.43	38	chr10	110821789	.	G	A	2162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.917;DP=556;ExcessHet=0;FS=3.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.265;SOR=0.472	GT:AD:DP:GQ:PL	0/1:93,87:180:99:2174,0,2330	9	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	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	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.05	1271.43	33	chr10	111078748	.	C	G	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.79;DP=432;ExcessHet=0;FS=4.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.597;SOR=0.346	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1283,0,1059	9	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	1574.67	137	chr10	117341050	.	C	T	1574.67	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.629;DP=814;ExcessHet=1.5895;FS=271.185;InbreedingCoeff=-0.3792;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=2.67;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,34:111:99:0|1:117341048_C_T:416,0,2156:117341048	3	0	4	3
chr10	122636009	122636009	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.C4296A:p.N1432K,DMBT1:NM_017579:exon49:c.C6150A:p.N2050K,DMBT1:NM_001320644:exon50:c.C6177A:p.N2059K,DMBT1:NM_007329:exon50:c.C6180A:p.N2060K,DMBT1:NM_001377530:exon53:c.C6567A:p.N2189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00679081677137	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247977519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.594	0.05737	T	0.095	0.39492	T	0.693	0.41684	P	0.295	0.40843	B	0.091111	0.02455	N	2.122320	1	0.08975	N	0.16	0.08945	N	1.65	0.27650	T	-1.69	0.43524	N	0.167	0.20395	-1.0607	0.11582	T	0.054	0.22808	T	10	0.09718162	0.17484	T	0.006791	0.17953	T	0.062	0.17934	0.607	0.73945	0.236890367714	0.23314	0.12653455801162566	0.12579	0.167866755791	0.18923	0.395314455032	0.24416	T	0.025614	0.19119	T	-0.266613	0.12137	T	-0.620747	0.11126	T	0.171929930076787	0.18710	T	0.040396	0.00287	T	0.076402195	0.17277	0.062408462	0.12205	0.076402195	0.17277	0.062408462	0.12205	-8.673	0.65570	D	.	.	0.328	0.61983	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.130580	0.15173	11.64	0.85673890897499161	0.16041	0.05332	0.11185	N	AEFBI	0.109754	0.21789	N	-1.13033558694043	0.06109	0.2803673	-1.15379082966431	0.06700	0.3233875	0.00536977806903124	0.10916	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	-1.27	0.08863	-0.474000	0.06686	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.674000	0.33367	0.3656:0.3417:0.1357:0.157	1.725	0.02745	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	825.43	33	chr10	122636009	.	C	A	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=379;ExcessHet=0;FS=0.98;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.764;SOR=0.843	GT:AD:DP:GQ:PL	0/1:37,31:68:99:837,0,933	9	0	1	0
chr10	122637181	122637181	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon38:c.C4540A:p.Q1514K,DMBT1:NM_017579:exon50:c.C6394A:p.Q2132K,DMBT1:NM_001320644:exon51:c.C6421A:p.Q2141K,DMBT1:NM_007329:exon51:c.C6424A:p.Q2142K,DMBT1:NM_001377530:exon54:c.C6811A:p.Q2271K	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	.	0.00499201	0.0032	0.0001	0.0004	0.0001	0	1.499e-05	0.0033	0.0231	0.0028072	434	154602	rs543589037	0.0014	0.0014	0.0008	0.0020	0.0223	0.0013	0.0013	0.0214	0.0211	8.961e-05	0	0	0	0	0.0005	1.349e-05	0.0012	0.0223	0.0008	0.0008	0.0004	0.0012	0.0249	0.0007	0.0006	0.0212	0.0199	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0249	0.054	0.47745	T	0.183	0.29740	T	0.775	0.45403	P	0.225	0.42203	B	0.055431	0.22643	U	0.216309	0.844098	0.28589	N	1.67	0.42885	L	-1.57	0.81900	D	-1.83	0.46673	N	0.287	0.35301	-0.1895	0.77940	T	0.439	0.77796	T	10	0.005826175	0.00130	T	.	.	.	0.282	0.59981	.	.	0.847530603234	0.84606	0.21228382884223634	0.21144	0.334990745553	0.35507	0.282208532095	0.07802	T	0.151881	0.49203	T	-0.397485	0.02405	T	-0.32748	0.41748	T	0.0307138533372576	0.02100	T	0.706229	0.31676	T	0.17294754	0.38015	0.17847337	0.40518	0.17294754	0.38014	0.17847337	0.40517	-9.379	0.70104	D	.	.	0.166	0.43640	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.595446	0.33679	19.41	0.9678928379493168	0.31105	0.22640	0.21814	N	AEFDBHCI	0.093722	0.18959	N	-0.0455109477000612	0.39803	2.353221	-0.0275343976084883	0.38477	2.267411	0.978743176698853	0.29954	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.889000	0.39352	.	.	0.599000	0.40250	0.085000	0.22462	0.019000	0.20708	0.588000	0.31090	0.1579:0.842:0.0:0.0	13.385	0.60237	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.05	929.43	38	chr10	122637181	.	C	A	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.23;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.316;SOR=0.707	GT:AD:DP:GQ:PL	0/1:61,45:106:99:941,0,1364	9	0	1	0
chr10	124447637	124447637	C	G	exonic	NKX1-2	.	nonsynonymous SNV	NKX1-2:NM_001146340:exon2:c.G725C:p.G242A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.954073300024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171767255	1.751e-06	1.368e-06	3.379e-06	0	2.099e-06	2.9e-07	1.1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.099e-06	0	0	6.641e-06	6.576e-06	1.298e-05	0	1.48e-05	0	0	.	.	0	0	0	0	0	0	0	1.48e-05	0	0	1.0	0.00964	T	0.544	0.09621	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-2.57	0.89692	D	-0.15	0.09297	N	0.192	0.21056	-0.5516	0.66726	T	0.532	0.82660	D	8	0.15498364	0.29221	T	0.954073	0.99689	D	0.158	0.41098	0.261	0.20473	0.107399877778	0.10242	0.37686988958632445	0.37601	.	.	0.821171164513	0.85208	D	0.001649	0.01084	T	-0.0940195	0.37413	T	-0.372829	0.36558	T	0.0247691200023634	0.01243	T	0.330167	0.06908	T	0.049673896	0.08856	0.09618746	0.22844	0.049673896	0.08855	0.09618746	0.22843	-4.46	0.30362	T	.	.	0.069	0.02960	B	.	.	-0.410459	0.02174	0.213	0.45935992274935372	0.03642	0.01597	0.05185	N	AEFDBCI	0.044097	0.07052	N	-0.998422390473909	0.08638	0.4057579	-1.07830981853986	0.08128	0.3982951	0.987908273793667	0.31369	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.53	0.088	0.13765	-0.024000	0.12382	1.137000	0.24374	-1.646000	0.00832	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.0:0.5968:0.4032:0.0	14.246	0.65540	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	292.43	34	chr10	124447637	.	C	G	292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.083;DP=365;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.573;SOR=0.434	GT:AD:DP:GQ:PL	0/1:24,13:37:99:304,0,657	9	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,25:104:99:0|1:124989533_G_A:614,0,3172:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:96,19:115:99:243,0,3165	1	0	9	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,21:158:99:0|1:124994489_T_G:469,0,5689:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,24:165:99:0|1:124994489_T_G:583,0,5844:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,26:164:99:0|1:124994489_T_G:637,0,5712:124994489	0	0	10	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,31:165:99:0|1:124994523_G_A:888,0,5444:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:126,31:157:99:357,0,3267	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:127,36:163:99:431,0,3304	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,36:168:99:0|1:124994577_C_A:1114,0,5306:124994577	0	0	10	0
chr10	125867183	125867183	C	A	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon2:c.G283T:p.V95F	.	.	.	.	.	.	.	.	0.9998	0.936	.	3808181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.976	0.58310	D	0.601	0.50808	P	0.000004	0.62929	D	0.065998	0.808215	0.52935	D	3.755	0.95055	H	3.89	0.03544	T	-3.41	0.70920	D	0.48	0.51494	-1.0559	0.12803	T	0.035	0.15291	T	10	0.5007686	0.61534	D	0.014319	0.34357	T	0.291	0.61040	0.515	0.61459	0.677927297446	0.67519	0.9001935188388991	0.89991	0.863305579176	0.69068	0.537627339363	0.44111	T	0.30659	0.67878	T	0.0563191	0.59150	T	-0.156878	0.58630	T	0.989100992679596	0.79363	D	0.938406	0.76842	D	0.6170381	0.73605	0.5057987	0.71436	0.6170381	0.73606	0.5057987	0.71436	-6.454	0.49930	T	.	.	0.600	0.71652	P	.;.	.;.	6.145948	0.94664	34	0.99645077669501203	0.76943	0.92543	0.55958	D	AEFBHCI	0.602608	0.59440	D	0.654917674335035	0.76689	6.532898	0.610636340121692	0.75711	6.359108	0.999999989915846	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	1.155000	0.31311	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9222:0.0:0.0778	11.973	0.52362	956	0.09877	Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	812.43	33	chr10	125867183	.	C	A	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.884;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.008;SOR=0.562	GT:AD:DP:GQ:PL	0/1:27,29:56:99:824,0,817	9	0	1	0
chr10	127175720	127175720	C	T	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.G676A:p.G226R	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0112992226738	0.0030	0.00259585	0.0020	0.0074	0.0017	0	0.0009	0.0014	0.0023	0.0027	0.0018887	292	154602	rs142182142	0.0012	0.0012	0.0011	0.0012	0.0074	0.0011	0.0011	0.0066	0.0063	0.0074	0.0013	0.0072	0	0.0003	0.0043	0.0006	0.0022	0.0037	0.0031	0.0031	0.0031	0.0031	0.0077	0.0029	0.0028	0.0070	0.0067	0.0077	0	0.0025	0.0089	0	0.0005	0.0068	0.0008	0.0024	0.0037	0.087	0.32453	T	0.087	0.40747	T	0.012	0.16265	B	0.003	0.08700	B	0.012180	0.29266	N	0.350111	0.873229	0.35603	D	.	.	.	1.04	0.40218	T	-2.0	0.46146	N	0.126	0.17416	-1.0342	0.19109	T	0.054	0.22883	T	10	0.0042294264	0.00085	T	0.011299	0.28784	T	0.028	0.06331	0.149	0.05238	0.043077524339	0.03247	0.24586080574377728	0.24500	0.164511453651	0.18562	0.358432710171	0.19157	T	0.031212	0.21937	T	-0.565677	0.00235	T	-0.581187	0.14440	T	0.00414775652868953	0.00044	T	0.691431	0.30091	T	0.04648569	0.07787	0.07896753	0.17735	0.04648569	0.07787	0.07896753	0.17734	-3.002	0.10809	T	.	.	0.123	0.34492	B	.;.;.	.;.;.	0.890101	0.12634	9.161	0.95506665410855396	0.27106	0.16954	0.19624	N	AEFDBI	0.088975	0.18035	N	-0.827322979921213	0.12614	0.6160055	-0.872604145452757	0.12745	0.6573847	0.815740889274689	0.24435	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	3.69	1.8	0.24069	0.352000	0.19851	0.084000	0.14428	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.7599:0.1527:0.0874	8.766	0.33859	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.020408	0.013587	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	804.43	38	chr10	127175720	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.811;SOR=0.696	GT:AD:DP:GQ:PL	0/1:36,31:67:99:816,0,943	9	0	1	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	727.57	37	chr10	131970666	.	G	A	727.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.948;DP=1168;ExcessHet=1.5895;FS=186.628;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.88;MQRankSum=0.679;QD=0.79;ReadPosRankSum=2.42;SOR=11.197	GT:AD:DP:GQ:PL	0/1:127,78:205:99:383,0,2201	6	0	4	0
chr10	132781888	132781888	C	T	exonic	INPP5A	.	nonsynonymous SNV	INPP5A:NM_001321042:exon12:c.C994T:p.P332S,INPP5A:NM_005539:exon15:c.C1186T:p.P396S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0836222431333	0.0011	0.000599042	0.0003	0.0037	0.0002	0	0	0	0	0	0.0002717	42	154602	rs145146330	8.485e-05	8.482e-05	0.0001	6.052e-05	0.0030	7.21e-05	6.798e-05	0.0026	0.0024	0.0030	0.0003	0	0	0	0.0002	0	9.936e-05	0	0.0009	0.0009	0.0010	0.0009	0.0032	0.0008	0.0008	0.0027	0.0025	0.0032	0	0.0006	0	0	0	0	0	0.0005	0	0.463	0.19854	T	0.662	0.06469	T	0.043	0.21573	B	0.016	0.17743	B	0.000635	0.42799	D	0.159252	0.62762	0.30726	N	0.55	0.14455	N	1.01	0.95145	T	0.48	0.06739	N	0.462	0.49874	-0.4240	0.71261	T	0.462	0.79179	T	10	0.008386552	0.00190	T	0.083622	0.74153	D	0.175	0.44197	.	.	0.218628672733	0.21463	0.3318425040940597	0.33097	1.41999816827	0.85601	0.441085755825	0.30725	T	0.086795	0.37801	T	-0.226254	0.17148	T	-0.0998803	0.63406	T	0.0164747373627643	0.00412	T	0.905909	0.66829	D	0.050521173	0.09141	0.053769443	0.09122	0.050521173	0.09141	0.053769443	0.09121	-7.398	0.56890	T	.	.	0.105	0.32756	B	.;.	.;.	3.341898	0.46053	22.2	0.97402908543049915	0.33785	0.79617	0.39487	D	AEFDBI	0.219269	0.34417	N	-0.48365673579722	0.22617	1.208868	-0.314376301531718	0.27633	1.53478	0.00746483211922467	0.11472	0.609539	0.35627	0	0.588066	0.40923	0	0.493711	0.08198	1	0.542086	0.14980	0	.	.	4.25	2.18	0.26813	3.427000	0.52552	3.774000	0.39765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2566:0.3739:0.3696:0.0	7.318	0.25683	994	0.00715	Inositol polyphosphate-related phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1181.43	35	chr10	132781888	.	C	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.468;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.827;SOR=0.709	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1193,0,1523	9	0	1	0
chr10	132942086	132942086	T	C	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon2:c.A68G:p.K23R	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0232338860529	.	.	9.38e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs749707718	7.146e-06	6.84e-06	4.23e-06	1.014e-05	0.0001	3.61e-06	2.64e-06	4.93e-05	3.626e-05	0	0	0	0	0	0	1.854e-06	0	0.0001	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.03036	T	0.941	0.02685	T	.	.	.	.	.	.	0.152337	0.17926	N	0.510538	1	0.08975	N	.	.	.	-1.56	0.81815	D	0.49	0.04161	N	0.108	0.09349	-0.9190	0.45689	T	0.210	0.57054	T	9	0.019969791	0.00453	T	0.023234	0.46189	T	0.097	0.27909	0.28	0.23483	0.0297737177859	0.01360	0.04089544168568699	0.04034	0.0883708896592	0.09985	0.586183965206	0.50957	T	0.003127	0.02525	T	-0.36538	0.03835	T	-0.472477	0.25251	T	0.0135023396607505	0.00247	T	0.547645	0.18800	T	0.03206765	0.03162	0.028563662	0.01103	0.03206765	0.03161	0.028563662	0.01103	-3.293	0.16306	T	.	.	0.062	0.02091	B	.;.	.;.	0.319407	0.06938	3.486	0.57498489920134044	0.05782	0.01760	0.05534	N	AEFDBCI	0.065749	0.12840	N	-1.226391142917	0.04620	0.20891	-1.25224233789584	0.05098	0.242102	0.998881393036034	0.37891	0.685219	0.55550	0	0.588066	0.40923	0	0.674405	0.61402	0	0.71	0.69187	0	.	.	4.06	1.14	0.19817	0.943000	0.28628	0.631000	0.20228	-1.009000	0.01772	0.007000	0.17678	0.001000	0.17328	0.002000	0.04165	0.0:0.4457:0.0:0.5543	7.055	0.24272	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	.	.	.	.	.	.	.	.	0.05	1173.43	34	chr10	132942086	.	T	C	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.302;DP=421;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.093;SOR=0.57	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1185,0,955	9	0	1	0
chr10	133269966	133269966	C	A	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001109:exon17:c.G1794T:p.W598C,ADAM8:NM_001164489:exon17:c.G1794T:p.W598C	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100563955244	0.0002	0.000399361	0.0005	0.0001	8.743e-05	0	0	0.0002	0.0011	0.0029	0.0004528	70	154602	rs141066065	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0002	0.0030	0.0029	5.974e-05	2.236e-05	0	0	0	0.0007	8.724e-05	0.0003	0.0034	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	2.404e-05	0	6.531e-05	0	0	0	0	0.0002	0	0.0029	0.03	0.45393	D	0.045	0.49390	D	0.966	0.56202	D	0.598	0.50679	P	.	.	.	.	0.867272	0.58761	D	2.39	0.68882	M	2.21	0.18414	T	-4.82	0.80851	D	0.49	0.52386	.	.	.	.	.	.	.	0.030659795	0.01193	T	0.100564	0.77293	D	.	.	.	.	0.648666119885	0.64575	0.798550339727289	0.79808	0.689296291096	0.60477	0.564293503761	0.47873	T	0.35206	0.71954	T	-0.449744	0.01133	T	-0.422481	0.30791	T	.	.	.	0.69993	0.42065	T	0.29498184	0.52451	0.30370447	0.56400	0.29498184	0.52450	0.30370447	0.56399	-8.045	0.63136	D	.	.	0.890	0.85090	P	.;.	.;.	3.724563	0.53242	23.3	0.9815044799118211	0.38680	0.41086	0.26580	N	AEFDBI	0.136931	0.25776	N	.	.	.	.	.	.	3.21913099212296E-4	0.06540	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.37	2.36	0.28258	0.215000	0.17352	3.403000	0.38141	0.531000	0.24825	0.048000	0.21332	0.992000	0.31684	0.253000	0.23340	0.0:0.5496:0.3373:0.113	5.671	0.16997	994	0.00715	ADAM, cysteine-rich;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1227.43	34	chr10	133269966	.	C	A	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.39;SOR=0.729	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1239,0,824	9	0	1	0
chr11	396835	396835	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon3:c.C334T:p.P112S,PKP3:NM_001303029:exon4:c.C379T:p.P127S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.115143425303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.93e-07	1.163e-05	1.378e-06	0	.	0	0	.	.	0	0	0	0	2.249e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.576	0.38407	T	0.06	0.45744	T	0.012	0.16265	B	0.007	0.12992	B	0.738486	0.09796	N	0.873235	0.913669	0.27452	N	0.805	0.20218	L	-1.38	0.80301	T	-1.11	0.85103	N	0.246	0.27792	-0.8725	0.50341	T	0.251	0.62027	T	10	0.097247064	0.17502	T	0.115143	0.79423	D	0.282	0.59981	0.25	0.18757	0.67947023701	0.67674	0.4188451731684173	0.41800	0.0920449276398	0.10393	0.481002628803	0.36194	T	0.032416	0.31471	T	0.022197	0.54678	T	-0.205892	0.54087	T	0.0693194053149251	0.08556	T	0.80032	0.44603	T	0.063576676	0.13400	0.06354915	0.12606	0.063576676	0.13400	0.06354915	0.12605	-3.17	0.12117	T	.	.	0.193	0.47535	B	.;.;.	.;.;.	1.779530	0.22627	15.70	0.9977808478952338	0.86519	0.58001	0.30525	D	AEFDGBCI	0.224581	0.34879	N	-0.621273732691716	0.18306	0.9493382	-0.504095542291262	0.22041	1.195257	0.999999695323084	0.74766	0.695654	0.57023	0	0.478664	0.06816	1	0.723109	0.80598	0	0.554799	0.18163	0	.	.	3.56	3.56	0.39892	0.425000	0.21065	3.908000	0.40392	0.594000	0.32500	0.029000	0.20367	1.000000	0.68203	0.006000	0.07323	0.2319:0.7681:0.0:0.0	8.480	0.32201	900	0.24599	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	598.43	52	chr11	396835	.	C	T	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.407;DP=538;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.161;SOR=0.963	GT:AD:DP:GQ:PL	0/1:28,23:51:99:610,0,711	9	0	1	0
chr11	601579	601579	C	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon10:c.C1030T:p.R344W,PHRF1:NM_001286582:exon10:c.C1027T:p.R343W,PHRF1:NM_001286583:exon10:c.C1018T:p.R340W,PHRF1:NM_020901:exon10:c.C1030T:p.R344W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.519201718655	.	.	2.502e-05	0	0	0	0	3.024e-05	0	6.075e-05	1.94e-05	3	154602	rs764662939	5.474e-06	5.472e-06	1.362e-06	9.629e-06	4.638e-05	2.36e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	3.313e-05	4.638e-05	6.575e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.003676	0.34636	N	0.000000	0.998572	0.45107	D	1.935	0.51832	L	-3.09	0.92613	D	-6.18	0.90568	D	0.512	0.58798	0.696	0.93127	D	0.812	0.93657	D	10	0.6952257	0.72101	D	0.519202	0.95420	D	0.537	0.80605	0.276	0.22845	0.614728689734	0.61161	0.4975781157110069	0.49678	0.482400438877	0.47204	0.365174174309	0.20137	T	0.444809	0.78807	T	0.0817771	0.62248	D	-0.0196793	0.69049	D	0.963478565216064	0.66670	D	0.962204	0.86214	D	0.4949967	0.66800	0.40137866	0.64649	0.4949967	0.66801	0.40137866	0.64649	-8.34	0.63578	D	.	.	0.204	0.43352	B	.;.;.;.	.;.;.;.	5.155676	0.86370	28.9	0.99915069614012164	0.98309	0.83418	0.42536	D	AEFGBI	0.425588	0.49029	N	0.424561568784141	0.62776	4.499211	0.328338488430032	0.57210	3.886067	0.778971797515031	0.23805	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.61	3.62	0.40616	1.545000	0.35775	3.981000	0.40905	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.455000	0.28006	0.2806:0.7193:0.0:0.0	9.250	0.36712	923	0.18507	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	893.43	37	chr11	601579	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.009;SOR=0.697	GT:AD:DP:GQ:PL	0/1:27,35:62:99:905,0,570	9	0	1	0
chr11	640059	640072	CCGGGGTCCCTGCG	-	exonic	DRD4	.	frameshift deletion	DRD4:NM_000797:exon3:c.810_823del:p.R271Pfs*174	Autonomic nervous system dysfunction (3)	2	216	1	0	7	8	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305910324	0.0003	0.0002	0.0002	0.0003	0.0069	0.0002	0.0002	0.0061	0.0058	0	0.0001	0	0	0	0.0011	3.743e-05	0.0005	0.0069	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0	0	0.0002	0	0	0	0	1.668e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	250.04	27	chr11	640058	.	CCCGGGGTCCCTGCG	C	250.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.32;DP=214;ExcessHet=0;FS=1.958;InbreedingCoeff=0.2591;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.543;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,7:18:99:0|1:640058_CCCGGGGTCCCTGCG_C:261,0,431:640058	8	0	1	1
chr11	640073	640073	G	A	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.G824A:p.G275D	Autonomic nervous system dysfunction (3)	2	214	1	0	9	10	0.002331	.	.	.	2348564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.072473956737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289570744	0.0003	0.0002	0.0002	0.0003	0.0049	0.0002	0.0002	0.0044	0.0041	0	0.0001	0	0	0	0.0010	3.931e-05	0.0005	0.0049	0.0003	0.0003	0.0001	0.0004	0.0072	0.0002	0.0002	0.0052	0.0045	0	0	0.0002	0	0	0	0	1.833e-05	0	0.0072	0.587	0.05862	T	0.523	0.10354	T	.	.	.	.	.	.	0.000000	0.00162	N	268.626000	1	0.08975	N	.	.	.	-0.3	0.67874	T	0.07	0.06138	N	0.127	0.12055	-1.0406	0.17132	T	0.118	0.41451	T	9	0.007906437	0.00179	T	0.072474	0.71540	D	0.073	0.21317	0.247	0.18293	0.276065633971	0.27208	0.39388427808643106	0.39303	0.366662604829	0.38238	0.62145280838	0.55934	T	.	.	.	-0.195732	0.21422	T	-0.518932	0.20403	T	0.150052726268768	0.17108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11269	B	.	.	0.131274	0.05267	1.767	0.90051406117481236	0.19337	0.01359	0.04652	N	AEFBI	0.030189	0.02993	N	-1.2463976692553	0.04347	0.1960328	-1.36564016494361	0.03625	0.1694684	0.999794576436463	0.43153	0.59774	0.34471	0	0.514364	0.08380	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	2.22	-1.29	0.08805	-1.818000	0.01811	-1.589000	0.05109	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2642:0.0:0.3244:0.4115	2.432	0.04200	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	250.08	27	chr11	640073	.	G	A	250.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.598;DP=200;ExcessHet=0;FS=1.958;InbreedingCoeff=0.259;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=2.54;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,7:18:99:0|1:640058_CCCGGGGTCCCTGCG_C:261,0,431:640058	8	0	1	1
chr11	801512	801512	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon8:c.G1415A:p.G472D,PIDD1:NM_145887:exon8:c.G1415A:p.G472D	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0246614719885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34621	T	0.033	0.53072	D	0.981	0.73220	D	0.714	0.67262	P	0.067537	0.21734	U	0.401360	1	0.08975	N	2.2	0.62015	M	2.0	0.21473	T	-1.33	0.33197	N	0.701	0.70527	-1.1159	0.02608	T	0.061	0.25563	T	10	0.28031874	0.45607	T	0.024661	0.47647	T	0.120	0.33359	0.309	0.28128	0.505518066752	0.50189	0.49398008868160603	0.49319	0.304373407854	0.32745	0.632327795029	0.57476	T	0.221599	0.58522	T	-0.0971787	0.36893	T	-0.377367	0.36031	T	0.551897943019867	0.34549	D	0.867413	0.56831	D	0.089242764	0.20846	0.106392555	0.25594	0.089242764	0.20845	0.106392555	0.25593	-6.361	0.49696	T	.	.	0.219	0.44986	B	.;.	.;.	2.771526	0.36384	20.2	0.99615877655516938	0.75112	0.21778	0.21521	N	AEFDBI	0.163615	0.28991	N	-0.172212598344184	0.34294	1.955765	-0.291487721224809	0.28378	1.581838	0.977374008088843	0.29815	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.74	2.81	0.31971	0.603000	0.23848	2.437000	0.32756	0.594000	0.32500	0.011000	0.18532	0.983000	0.30585	0.965000	0.52897	0.512:0.3968:0.0:0.0911	6.475	0.21232	884	0.28482	.;ZU5 domain|ZU5 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	.	.	.	.	.	.	.	.	0.05	700.43	39	chr11	801512	.	C	T	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.165;DP=438;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.401;SOR=0.39	GT:AD:DP:GQ:PL	0/1:31,31:62:99:712,0,688	9	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/1:179,21:202:99:343,0,7453	5	0	5	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	7445.87	286	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	7445.87	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.63;DP=5381;ExcessHet=8.3924;FS=0;InbreedingCoeff=-0.5278;MLEAC=4;MLEAF=0.222;MQ=57.39;MQRankSum=-5.608;QD=2.82;ReadPosRankSum=-0.805;SOR=0.713	GT:AD:DP:GQ:PL	0/1:236,103:395:99:3125,0,15486	5	0	4	1
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,56:395:99:.:.:1749,0,9321:.	3	0	6	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1293.0	252	chr11	1096180	.	C	*	1293.0	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.242;DP=4319;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.92;MQRankSum=-4.469;QD=0.74;ReadPosRankSum=-1.534;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,56:394:99:0|1:1096089_C_A:1715,0,9349:1096089	2	0	5	3
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1288.98	254	chr11	1096181	.	C	*	1288.98	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,56:394:99:0|1:1096089_C_A:1715,0,9349:1096089	2	0	5	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1269.43	263	chr11	1096211	.	A	*	1269.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.64;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.43;MQRankSum=-4.857;QD=0.68;ReadPosRankSum=6.96;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,56:394:99:0|1:1096089_C_A:1715,0,9349:1096089	1	0	5	4
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1268.43	261	chr11	1096212	.	C	*	1268.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,56:394:99:0|1:1096089_C_A:1715,0,9349:1096089	1	0	5	4
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3440.14	115	chr11	1096594	.	C	A	3440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.86;DP=1405;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.7;MQRankSum=2.5;QD=9.64;ReadPosRankSum=0.889;SOR=0.676	GT:AD:DP:GQ:PL	0/1:97,71:168:99:1435,0,3746	8	0	2	0
chr11	1096870	1096870	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431967295	0.0044	0.0061	0.0043	0.0045	0.0113	0.0042	0.0041	0.0093	0.0086	0.0052	0.0030	0.0056	0.0113	0.0191	0.0054	0.0037	0.0070	0.0042	0.0058	0.0028	0.0075	0.0043	0.0185	0.0023	0.0015	0.0020	0.0010	0	.	0	0	0.0185	0.0109	0	0.0072	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	186.05	30	chr11	1096870	.	A	C	186.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=474;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.53;MQRankSum=-2.721;QD=2.04;ReadPosRankSum=-3.256;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,12:91:99:0|1:1096870_A_C:197,0,3152:1096870	8	0	1	1
chr11	1098113	1098113	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	584	937	1	0	0	1	0.000533333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489547140	0.0051	0.0047	0.0051	0.0050	0.0099	0.0049	0.0048	0.0086	0.0081	0.0064	0.0099	0.0059	0.0085	0.0056	0.0021	0.0041	0.0066	0.0077	0.0117	0.0084	0.0116	0.0117	0.0135	0.0101	0.0095	0.0112	0.0104	0.0105	0	0.0084	0.0172	0.0076	0.0086	0	0.0135	0.0130	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	212.46	100	chr11	1098113	.	A	C	212.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.13;DP=1468;ExcessHet=0.2348;FS=3.898;InbreedingCoeff=-0.1235;MLEAC=2;MLEAF=0.1;MQ=41.8;MQRankSum=1.87;QD=0.69;ReadPosRankSum=-3.901;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,19:138:99:.:.:203,0,3170:.	8	0	2	0
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2191.92	115	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	2191.92	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.75;DP=3327;ExcessHet=2.3007;FS=0.524;InbreedingCoeff=-0.1696;MLEAC=6;MLEAF=0.6;MQ=52.67;MQRankSum=-0.92;QD=1.9;ReadPosRankSum=-2.196;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,187:291:99:.:.:2509,0,2644:.	1	0	4	5
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,187:295:99:.:.:6720,3290,3574:.	5	0	5	0
chr11	1247067	1247067	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10187T:p.T3396M	.	419	1083	19	1	0	21	0.00960219	.	.	.	2839956	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.0017518871521	0.0004	.	0.0008	0	0	0	0	0.0009	0.0048	0.0010	0.0002523	39	154602	rs202040871	0.0007	0.0007	0.0007	0.0007	0.0026	0.0007	0.0007	0.0016	0.0013	0.0001	0.0004	0.0050	0.0002	0.0001	0.0026	0.0006	0.0010	0.0010	0.0005	0.0005	0.0005	0.0006	0.0007	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0007	0.0055	0	0	0	0.0006	0	0.0004	0.045	0.40832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.08	0.20255	T	-0.8	0.22078	N	0.085	0.06190	-1.0148	0.25400	T	0.021	0.08917	T	8	0.0076200366	0.00173	T	0.001752	0.02960	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.31721853306919756	0.31634	.	.	0.190046176314	0.00226	T	0.035152	0.23605	T	-0.666675	0.00057	T	-0.775961	0.02577	T	0.00606447827578364	0.00067	T	0.373163	0.08852	T	0.026398048	0.01691	0.08248823	0.18831	0.026398048	0.01691	0.08248823	0.18831	-8.659	0.65478	D	.	.	0.157	0.34775	B	.	.	0.628555	0.09970	6.725	0.32619299529096396	0.01900	0.01060	0.03938	N	AEFI	0.037577	0.05190	N	-1.42769480789935	0.02398	0.1058429	-1.53570907075174	0.02076	0.09493221	1.14501724228857E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	-0.765000	0.04836	-2.243000	0.04007	-1.341000	0.01203	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004122	0.005208	0.006192	0.000000	0.000000	0.000000	0.000000	0.012397	0.05	2628.43	112	chr11	1247067	.	C	T	2628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.476;DP=1247;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.28;MQRankSum=0.932;QD=12.34;ReadPosRankSum=0.954;SOR=0.708	GT:AD:DP:GQ:PL	0/1:97,116:213:99:2640,0,2201	9	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	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	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2	8215.57	39	chr11	1956322	.	G	A	8215.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.86;DP=958;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/1:58,76:134:99:1733,0,1266	6	0	4	0
chr11	2402817	2402817	C	T	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.C184T:p.P62S,TSSC4:NM_005706:exon3:c.C184T:p.P62S,TSSC4:NM_001297658:exon4:c.C184T:p.P62S,TSSC4:NM_001297660:exon4:c.C184T:p.P62S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0223310335412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.19225	T	0.2	0.30926	T	0.713	0.42139	P	0.224	0.37970	B	0.232406	0.15891	U	0.531595	1	0.08975	N	1.465	0.36909	L	2.6	0.43279	T	-1.25	0.78135	N	0.075	0.04913	-1.0154	0.25207	T	0.094	0.35524	T	9	0.1193631	0.22587	T	0.022331	0.45207	T	0.033	0.08068	0.231	0.15855	0.152612264143	0.14878	0.08384527383467923	0.08318	0.111471321809	0.12582	0.475081622601	0.35380	T	0.011125	0.36815	T	-0.204238	0.20195	T	-0.53115	0.19171	T	0.186104193329811	0.19612	T	0.561544	0.19673	T	0.026545344	0.01725	0.03661266	0.03143	0.026545344	0.01725	0.03661266	0.03142	-3.31	0.13866	T	.	.	0.09	0.15609	B	.;.;.;.;.;.	.;.;.;.;.;.	1.609087	0.20566	14.81	0.99469674350936288	0.66259	0.06877	0.12903	N	AEFBCI	0.088071	0.17856	N	-0.407681335597537	0.25199	1.366	-0.547626135038346	0.20869	1.126341	0.999995441821331	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.37	2.35	0.28166	0.445000	0.21392	0.476000	0.18759	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5988:0.293:0.1083	6.959	0.23768	988	0.01987	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	35	chr11	2402817	.	C	T	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.476;DP=498;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1361,0,1876	9	0	1	0
chr11	3361871	3361871	G	A	exonic	ZNF195	.	nonsynonymous SNV	ZNF195:NM_001130519:exon4:c.C245T:p.A82V,ZNF195:NM_001130520:exon4:c.C245T:p.A82V,ZNF195:NM_001242841:exon5:c.C257T:p.A86V,ZNF195:NM_001256824:exon5:c.C257T:p.A86V	.	436	1059	26	1	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00129922044372	.	.	0.0050	0	0.005	0	0	0.0066	0	0.0053	0.0005886	91	154602	rs542961230	0.0016	0.0008	0.0015	0.0016	0.0057	0.0014	0.0014	0.0035	0.0028	0.0001	8.902e-05	0.0240	0.0002	0.0002	0.0057	0.0005	0.0022	0.0023	0.0009	0.0009	0.0008	0.0011	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0.0011	0.0003	0.0225	0	0	0.0068	0.0005	0.0033	0.0017	0.554	0.07235	T	0.538	0.09829	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.01	0.25309	L	6.99	0.00458	T	0.05	0.08653	N	0.202	0.26354	-1.0187	0.24139	T	0.001	0.00222	T	8	0.0049428344	0.00106	T	0.001299	0.01809	T	0.024	0.04979	0.38	0.39645	0.377839696382	0.37399	0.013495007848525671	0.01307	0.221152819227	0.24661	0.320473700762	0.13493	T	0.00725	0.06665	T	-0.590949	0.00165	T	-0.626871	0.10653	T	0.0015679024322877	0.00016	T	0.745725	0.43272	T	0.02120178	0.00711	0.06336385	0.12541	0.02120178	0.00710	0.06336385	0.12540	-3.138	0.11738	T	.	.	0.295	0.55678	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.079809	0.03764	0.785	0.71102350513617507	0.09516	0.00431	0.02113	N	AEFDBI	0.038264	0.05388	N	-1.32935881474956	0.03344	0.1492021	-1.36866385330399	0.03591	0.1677997	0.00274969753692877	0.09676	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.225	0.225	0.14598	-0.755000	0.04887	-2.228000	0.04028	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.174000	0.21107	.	.	.	964	0.07719	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002183	0.000000	0.032609	0.017241	0.000000	0.045455	0.000000	0.000000	0.05	494.43	35	chr11	3361871	.	G	A	494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.179;DP=366;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.085;SOR=1.034	GT:AD:DP:GQ:PL	0/1:12,18:30:99:506,0,291	9	0	1	0
chr11	5610560	5610560	G	C	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001198645:exon5:c.G375C:p.W125C,TRIM6:NM_001198644:exon6:c.G375C:p.W125C,TRIM6:NM_001003818:exon7:c.G984C:p.W328C,TRIM6-TRIM34:NM_001003819:exon7:c.G984C:p.W328C,TRIM6:NM_058166:exon7:c.G900C:p.W300C	.	.	.	.	.	.	.	.	0.0003	0.028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.196057754184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	0	0	0.0002	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.72224	D	0.979	0.77913	D	0.533	0.67150	P	.	.	.	.	1	0.81001	D	2.41	0.69639	M	3.59	0.67187	T	-10.69	0.99239	D	0.7	0.72567	-0.1680	0.78477	T	0.434	0.77478	T	9	0.71860313	0.73511	D	0.196058	0.86457	D	0.238	0.54217	0.503	0.59615	0.546607571196	0.54314	0.35940547745099144	0.35854	0.250867766051	0.27665	0.561135649681	0.47428	T	0.073569	0.34730	T	0.18788	0.72768	D	0.0320996	0.72414	D	0.97719419002533	0.71729	D	0.974702	0.91107	D	0.6945267	0.77758	0.62944734	0.78388	0.6945267	0.77759	0.62944734	0.78388	-8.593	0.65043	D	.	.	0.825	0.78462	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.099787	0.85202	28.5	0.98057430244660648	0.37921	0.90489	0.51708	D	AEFGBI	0.479956	0.52188	N	0.267699042838215	0.54520	3.617294	0.176054909705904	0.48539	3.068429	0.998957179683453	0.38059	0.706548	0.73137	0	0.53679	0.11191	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.19	3.28	0.36691	2.764000	0.47295	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1087:0.0:0.8913:0.0	8.108	0.30057	840	0.37365	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY 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	.	.	.	.	.	.	.	.	0.05	1888.43	73	chr11	5610560	.	G	C	1888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.128;DP=836;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.789;SOR=0.795	GT:AD:DP:GQ:PL	0/1:73,79:152:99:1900,0,1785	9	0	1	0
chr11	6170163	6170163	C	T	exonic	OR52B2	.	nonsynonymous SNV	OR52B2:NM_001004052:exon1:c.G164A:p.R55H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2365283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00334289318155	0.0002	0.000199681	0.0002	0	8.687e-05	0	0	0.0001	0	0.0010	0.0001811	28	154602	rs201572583	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0007	0	2.237e-05	0	0.0001	1.873e-05	0.0014	8.455e-05	0.0003	0.0009	0.0001	0.0001	0.0001	8.063e-05	0.0002	6.513e-05	5.324e-05	0.0001	7.895e-05	2.413e-05	0	6.539e-05	0	0	0	0	0.0002	0.0005	0.0002	0.408	0.10212	T	0.514	0.10678	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.165	0.29723	L	7.42	0.00404	T	-1.06	0.27669	N	0.074	0.04790	-1.0286	0.20908	T	0.001	0.00255	T	9	0.009037197	0.00205	T	0.003343	0.07451	T	0.026	0.05648	.	.	0.0920862733494	0.08535	0.2090392078702674	0.20819	0.0366361011954	0.03876	0.164180845022	0.00016	T	0.004959	0.04384	T	-0.668554	0.00056	T	-0.80193	0.01854	T	0.0199797056658512	0.00699	T	0.446155	0.12501	T	0.029283747	0.02398	0.059603244	0.11213	0.029283747	0.02398	0.059603244	0.11213	-3.779	0.20491	T	.	.	0.080	0.07745	B	.	.	-0.161659	0.03293	0.567	0.63272574624271338	0.07180	0.03012	0.07883	N	AEFBI	0.065483	0.12775	N	-1.93275079026835	0.00294	0.0126085	-1.92698539599179	0.00433	0.01913921	1.50092551511534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.02	-1.49	0.08259	-3.758000	0.00420	-7.362000	0.01173	-3.957000	0.00050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6098:0.0:0.3902	12.045	0.52769	839	0.37672	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2258.43	33	chr11	6170163	.	C	T	2258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.859;SOR=0.734	GT:AD:DP:GQ:PL	0/1:68,89:157:99:2270,0,1530	9	0	1	0
chr11	6217738	6217738	C	A	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1848T:p.R616S,FAM160A2:NM_032127:exon9:c.G1890T:p.R630S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00770747456144	0.0025	0.00119808	0.0007	0.0067	0.0003	0	0	5.477e-05	0	0.0011	0.0006015	93	154602	rs201971513	0.0003	0.0003	0.0003	0.0002	0.0061	0.0002	0.0002	0.0054	0.0052	0.0061	0.0002	0	0	1.911e-05	0.0017	3.538e-05	0.0005	0.0008	0.0019	0.0020	0.0020	0.0019	0.0066	0.0018	0.0017	0.0060	0.0057	0.0066	0	0.0004	0	0.0002	0	0	0.0001	0.0010	0.0002	1.0	0.00964	T	0.724	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.100504	0.19883	N	0.584078	0.999999	0.08975	N	-0.55	0.02420	N	1.28	0.35960	T	1.41	0.01488	N	0.1	0.08227	-0.9891	0.32828	T	0.016	0.06711	T	10	0.002858162	0.00046	T	0.007707	0.20457	T	0.027	0.05988	0.25	0.18757	0.0675242888579	0.06100	0.20350168211808867	0.20267	0.368273636117	0.38382	0.356226533651	0.18834	T	0.008299	0.07627	T	-0.612451	0.00122	T	-0.648934	0.09028	T	0.000884819767317438	0.00008	T	0.257374	0.04056	T	0.08377439	0.19360	0.053771105	0.09122	0.08377439	0.19359	0.053771105	0.09121	-3.473	0.16361	T	.	.	0.086	0.21766	B	.;.;.	.;.;.	-0.588464	0.01604	0.109	0.16500527312614852	0.00445	0.00288	0.01547	N	AEFDBI	0.026317	0.01952	N	-1.29351456976082	0.03753	0.1681972	-1.14241357745269	0.06905	0.333982	0.410328127786977	0.20206	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.16	1.55	0.22356	-0.081000	0.11285	1.852000	0.29263	-0.533000	0.04955	0.000000	0.06391	0.003000	0.18671	0.209000	0.22154	0.5534:0.2911:0.1555:0.0	5.111	0.14145	600	0.68026	.;.;.	.	.	.	.	.	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2698.43	33	chr11	6217738	.	C	A	2698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.747;DP=528;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=0.701;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,70:127:99:0|1:6217730_C_A:2710,0,2128:6217730	9	0	1	0
chr11	6457019	6457019	C	A	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248007:exon5:c.G350T:p.S117I,TRIM3:NM_001248006:exon6:c.G707T:p.S236I,TRIM3:NM_033278:exon6:c.G707T:p.S236I,TRIM3:NM_006458:exon7:c.G707T:p.S236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0406108589163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1137114	2.787e-06	4.104e-06	1.38e-06	4.223e-06	1.168e-05	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0	0	5.048e-05	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.33585	T	0.157	0.32040	T	0.007	0.14184	B	0.025	0.20508	B	0.090150	0.20390	N	0.536080	1	0.81001	D	1.15	0.29295	L	-0.65	0.83737	T	-1.47	0.49018	N	0.211	0.30687	-0.7461	0.58138	T	0.357	0.71967	T	10	0.14929971	0.28257	T	0.040611	0.59470	D	0.099	0.28413	0.341	0.33302	0.379559396232	0.37572	0.3307529673893917	0.32988	1.20472787136	0.80666	0.613256454468	0.54776	T	0.203624	0.56215	T	-0.0115234	0.50052	T	-0.254329	0.49389	T	0.285113602876663	0.24385	T	0.943806	0.78763	D	0.07360645	0.16459	0.094102696	0.22258	0.07360645	0.16459	0.094102696	0.22258	-6.988	0.53946	T	.	.	0.178	0.45061	B	.;.;.;.;.;.	.;.;.;.;.;.	2.832478	0.37348	20.5	0.8225220606939081	0.14096	0.93178	0.57529	D	AEFDBI	0.448204	0.50353	N	-0.384495546998404	0.26020	1.416968	-0.2332344341077	0.30354	1.708302	0.205878617042652	0.18180	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	3.12	0.34986	5.425000	0.66208	5.157000	0.47777	-0.108000	0.15293	0.991000	0.37257	1.000000	0.68203	0.942000	0.48361	0.0805:0.145:0.7745:0.0	9.427	0.37751	732	0.54084	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	721.43	34	chr11	6457019	.	C	A	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.513;DP=390;ExcessHet=0;FS=2.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.144;SOR=1.127	GT:AD:DP:GQ:PL	0/1:29,28:57:99:733,0,791	9	0	1	0
chr11	18601155	18601155	C	T	exonic	SPTY2D1OS	.	nonsynonymous SNV	SPTY2D1OS:NM_001355570:exon2:c.C133T:p.R45W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541920702	2.435e-05	2.863e-05	2.468e-05	2.403e-05	0.0005	9.75e-06	6.75e-06	0.0002	0.0001	0	0.0005	0	0	0	0	0	6.108e-05	0.0003	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.327e-05	3.042e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.105	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.17278	.	.	.	.	.	.	.	0.051512033	0.05044	T	.	.	.	.	.	.	.	.	.	0.007080570163792409	0.00675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.18126	T	0.107139565	0.25334	0.06073082	0.11612	0.107139565	0.25334	0.06073082	0.11611	-5.54	0.42241	T	.	.	0.087	0.14385	B	.;.;.	.;.;.	1.017883	0.13970	10.54	0.59146269116416184	0.06156	0.01321	0.04565	N	AEFI	.	.	.	.	.	.	.	.	.	0.00196456062506968	0.09045	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.121008	0.24743	3.83	-1.4	0.08499	-0.181000	0.09734	-0.956000	0.06796	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3755:0.3277:0.2968	4.204	0.09937	569	0.70546	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1215.43	34	chr11	18601155	.	C	T	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=418;ExcessHet=0;FS=2.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.455;SOR=0.865	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1227,0,1220	9	0	1	0
chr11	30010855	30010855	C	G	exonic	KCNA4	.	nonsynonymous SNV	KCNA4:NM_002233:exon2:c.G1824C:p.K608N	.	237	1276	9	0	0	9	0.00351425	.	.	.	1017444	not_provided|Microcephaly,_cataracts,_impaired_intellectual_development,_and_dystonia_with_abnormal_striatum	MedGen:C3661900|MONDO:MONDO:0032656,MedGen:C4748984,OMIM:618284	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0633115046288	0.0002	.	0.0004	0	0.0009	0	0	0.0005	0	0.0007	0.0004075	63	154602	rs200225575	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0064	0.0058	8.961e-05	0.0009	0.0002	0	0	0.0083	0.0003	0.0007	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.826e-05	0	0.0003	0	0	9.42e-05	0.0032	0.0002	0.0005	0.0006	0.02	0.49613	D	0.091	0.40110	T	0.006	0.13644	B	0.017	0.18140	B	0.002610	0.36243	N	0.255014	0.999726	0.48557	D	2.19	0.61577	M	-4.25	0.97054	D	-1.72	0.40850	N	0.396	0.43706	0.606	0.91977	D	0.843	0.94746	D	10	0.06741822	0.09390	T	0.063312	0.68928	D	0.293	0.61272	0.183	0.09131	0.795632351168	0.79372	0.7613484547370747	0.76082	1.49335097258	0.86919	0.819486379623	0.84950	D	0.283499	0.65626	T	-0.183745	0.23179	T	-0.12707	0.61216	T	0.0640718430831821	0.07793	T	0.885811	0.61165	D	0.19404025	0.41138	0.14755045	0.34913	0.19404025	0.41138	0.14755045	0.34912	-4.413	0.29733	T	.	.	0.802	0.77376	P	.	.	2.851868	0.37657	20.5	0.99799766588867433	0.88461	0.98131	0.79864	D	AEFBI	0.599396	0.59243	D	-0.0327497831696494	0.40376	2.396729	0.111951538515765	0.45160	2.784062	1.22090592734743E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.79	0.60909	1.963000	0.40076	1.434000	0.26471	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8007:0.0:0.1993	9.610	0.38824	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.000000	0.05	2279.43	34	chr11	30010855	.	C	G	2279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.121;DP=511;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.101;SOR=0.638	GT:AD:DP:GQ:PL	0/1:108,92:200:99:2291,0,2795	9	0	1	0
chr11	36278529	36278529	T	C	exonic	COMMD9	.	nonsynonymous SNV	COMMD9:NM_001101653:exon2:c.A139G:p.N47D,COMMD9:NM_001307932:exon3:c.A265G:p.N89D,COMMD9:NM_014186:exon3:c.A265G:p.N89D,COMMD9:NM_001307937:exon4:c.A238G:p.N80D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00528987571877	.	.	8.237e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs746080058	3.421e-06	3.42e-06	2.723e-06	4.126e-06	8.961e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.21304	T	0.597	0.17531	T	0.971	0.57185	D	0.652	0.52532	P	0.000004	0.62929	D	0.139496	0.915558	0.36529	D	1.895	0.50365	L	2.95	0.09635	T	-0.32	0.21860	N	0.182	0.30004	-1.0424	0.16592	T	0.036	0.15422	T	10	0.11282483	0.21175	T	0.00529	0.13525	T	0.125	0.34456	0.51	0.60693	0.176862962021	0.17281	0.13791543664934428	0.13715	0.328683231813	0.34977	0.589648008347	0.51445	T	0.003375	0.14442	T	-0.297573	0.08891	T	-0.568366	0.15599	T	0.347310073228393	0.26913	T	0.829317	0.50788	T	0.35619703	0.57546	0.274679	0.53398	0.35619703	0.57546	0.274679	0.53397	-5.006	0.36905	T	.	.	0.085	0.34183	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.99453265277523561	0.65376	0.73021	0.35725	D	AEDGBHCI	0.170877	0.29781	N	0.129932119125443	0.47862	3.006159	0.249084891685323	0.52597	3.433562	0.999962981509787	0.48965	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	1.302000	0.33063	5.040000	0.46903	0.665000	0.62972	0.993000	0.37899	1.000000	0.68203	0.982000	0.59238	0.0:0.0765:0.0:0.9235	10.275	0.42681	902	0.24074	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1252.43	35	chr11	36278529	.	T	C	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.063;DP=408;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.482;SOR=0.722	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1264,0,844	9	0	1	0
chr11	46770928	46770928	G	A	exonic	CKAP5	.	nonsynonymous SNV	CKAP5:NM_001008938:exon25:c.C3046T:p.L1016F,CKAP5:NM_014756:exon25:c.C3046T:p.L1016F	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	.	7.7e-05	0.00199681	0.0020	9.61e-05	0.0004	0	0	0	0	0.0141	0.0016365	253	154602	rs367607182	0.0008	0.0008	0.0004	0.0012	0.0130	0.0008	0.0008	0.0124	0.0122	2.987e-05	0	0	2.519e-05	0	0.0007	1.799e-06	0.0009	0.0130	0.0004	0.0004	0.0003	0.0005	0.0122	0.0003	0.0003	0.0097	0.0088	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0122	0.015	0.53900	D	0.016	0.60972	D	0.999	0.77913	D	0.985	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.8	0.81625	M	-0.5	0.70480	T	-2.31	0.56630	N	0.699	0.74189	-0.1760	0.78281	T	0.473	0.79774	T	10	0.009250015	0.00209	T	.	.	.	0.442	0.74518	.	.	0.744910397829	0.74261	0.5246507163017348	0.52389	0.898816939212	0.70572	0.583297491074	0.50550	T	0.370974	0.73542	T	-0.106081	0.35417	T	0.0865219	0.76013	D	0.183004478428276	0.19423	T	0.906409	0.67274	D	0.46610928	0.65051	0.30747935	0.56769	0.46610928	0.65052	0.30747935	0.56768	-11.489	0.82272	D	.	.	0.308	0.53641	B	.;.;.	.;.;.	4.296548	0.65572	24.8	0.9990238775939142	0.97426	0.96108	0.67569	D	AEFBI	0.364864	0.45325	N	0.681318897279618	0.78408	6.865687	0.679347164839261	0.80814	7.383175	0.171206842059076	0.17738	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	4.218000	0.58351	5.831000	0.50164	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1474:0.0:0.8526:0.0	10.281	0.42721	13	0.98894	CLASP N-terminal domain|TOG 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	0.002018	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1088.43	35	chr11	46770928	.	G	A	1088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=401;ExcessHet=0;FS=5.624;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.958;SOR=1.306	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1100,0,1024	9	0	1	0
chr11	46871604	46871604	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon31:c.G4613A:p.R1538Q	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	314218	not_provided|Cenani-Lenz_syndactyly_syndrome|Sclerosteosis_2|Congenital_myasthenic_syndrome_17|Bone_Mineral_Density_Variation|LRP4-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MedGen:CN239274|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	0.0002	0.00219649	0.0023	0.0003	0.0004	0	0.0006	0.0002	0	0.0156	0.0017011	263	154602	rs140495790	0.0009	0.0009	0.0005	0.0012	0.0128	0.0008	0.0008	0.0122	0.0120	8.966e-05	0	0	2.522e-05	0.0006	0.0009	3.149e-05	0.0011	0.0128	0.0005	0.0005	0.0003	0.0007	0.0125	0.0004	0.0004	0.0099	0.0090	7.222e-05	0	6.539e-05	0	0	0.0006	0	8.819e-05	0.0005	0.0125	0.007	0.59928	D	0.02	0.58613	D	1.0	0.90584	D	0.992	0.80445	D	0.000006	0.62929	D	0.061561	1	0.81001	D	1.93	0.51437	L	-3.9	0.96015	D	-2.22	0.49846	N	0.727	0.72835	0.990	0.97019	D	0.916	0.97223	D	10	0.019691497	0.00443	T	.	.	.	0.797	0.93346	.	.	0.886708237902	0.88559	0.7586441953864115	0.75812	1.4798634796	0.86686	0.682887196541	0.64684	T	0.665081	0.89995	D	0.14101	0.68421	D	0.441451	0.93360	D	0.129605070929529	0.15345	T	0.984502	0.94671	D	0.40229258	0.60891	0.32973856	0.58850	0.40229258	0.60891	0.32973856	0.58849	-7.871	0.60187	D	.	.	0.448	0.62102	A	.	.	5.473290	0.91297	32	0.99951937154161119	0.99951	0.97788	0.77138	D	AEFBI	0.757551	0.69647	D	0.804207853945373	0.86369	8.863184	0.799868204473316	0.89783	10.11992	0.99999994946712	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	5.931000	0.69831	7.608000	0.61804	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.078	0.97757	12	0.98946	.	.	.	.	.	.	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	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	758.43	35	chr11	46871604	.	C	T	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.082;SOR=0.593	GT:AD:DP:GQ:PL	0/1:36,34:70:99:770,0,785	9	0	1	0
chr11	47171799	47171799	A	G	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon8:c.T590C:p.L197P,ARFGAP2:NM_032389:exon9:c.T674C:p.L225P	.	418	1100	4	0	0	4	0.00181488	0.7976	0.468	.	3210663	ARFGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.456	.	.	0.00339457	0.0024	9.638e-05	0.0003	0	0	0	0	0.0171	0.0020246	313	154602	rs575856978	0.0010	0.0010	0.0005	0.0015	0.0161	0.0010	0.0009	0.0154	0.0151	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	3.597e-06	0.0011	0.0161	0.0006	0.0006	0.0003	0.0008	0.0168	0.0005	0.0004	0.0138	0.0127	2.405e-05	0	0	0	0	0	0	0	0.0009	0.0168	0.008	0.78490	D	0.032	0.79402	D	0.999	0.77913	D	0.953	0.69275	D	0.000747	0.42006	D	0.206931	1	0.81001	D	3.3	0.90472	M	0.64	0.52867	T	-5.38	0.88963	D	0.847	0.84298	-0.4176	0.71469	T	0.345	0.70996	T	10	0.008942157	0.00222	T	.	.	.	0.456	0.75483	0.219	0.14078	0.765807116871	0.76367	0.6872399632776086	0.68663	1.0665472346	0.76640	0.77514231205	0.78196	T	0.122899	0.48202	T	-6.63377e-05	0.51644	T	0.240754	0.85181	D	0.200435189453936	0.20440	T	0.889211	0.76057	D	0.725593	0.79474	0.8107354	0.88947	0.725593	0.79476	0.8107354	0.88947	-14.381	0.94229	D	.	.	0.416	0.72983	A	.;.;.;.;.;.	.;.;.;.;.;.	4.794111	0.77832	26.8	0.99599145725654026	0.74101	0.98642	0.85044	D	AEFDGBCI	0.964269	0.98636	D	0.875153070065866	0.90490	10.42777	0.852044394038771	0.93133	11.84639	0.999999999999789	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.947000	0.92735	9.380000	0.80508	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	16.424	0.83629	25	0.98345	.;Arf GTPase activating protein|Arf GTPase activating protein;.;Arf GTPase activating protein|Arf GTPase activating protein;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	259.44	31	chr11	47171799	.	A	G	259.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.661;DP=243;ExcessHet=0;FS=3.245;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.94;SOR=0.155	GT:AD:DP:GQ:PL	0/1:10,9:19:99:271,0,374	9	0	1	0
chr11	47578042	47578042	C	A	exonic	KBTBD4	.	nonsynonymous SNV	KBTBD4:NM_001318717:exon2:c.G75T:p.W25C,KBTBD4:NM_001318718:exon2:c.G33T:p.W11C,KBTBD4:NM_001318719:exon2:c.G33T:p.W11C	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	7.7e-05	0.00399361	0.0032	0.0001	0.0002	0	0	0	0.0012	0.0219	0.0023868	369	154602	rs368090346	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0176	5.975e-05	0	0	2.519e-05	0	0.0017	6.296e-06	0.0014	0.0186	0.0006	0.0006	0.0004	0.0008	0.0193	0.0005	0.0005	0.0161	0.0149	4.812e-05	0	0	0	0	0	0	0	0.0005	0.0193	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.868331	0.35515	D	.	.	.	-0.74	0.77719	T	0.21	0.08033	N	0.302	0.34120	-0.9330	0.43695	T	0.216	0.57771	T	8	0.00425905	0.00085	T	.	.	.	0.202	0.48754	0.611	0.74418	0.618772897693	0.61568	0.2415374170160906	0.24067	.	.	.	.	.	0.010238	0.09261	T	-0.324153	0.06564	T	-0.222804	0.52465	T	0.0157068891105027	0.00362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.50708	B	.;.	.;.	0.710300	0.10793	7.476	0.92944511064892832	0.22515	0.09998	0.15623	N	AEFDGBCIJ	0.117605	0.23031	N	-0.79906468382304	0.13334	0.6561559	-0.872669311401357	0.12743	0.657297	0.999995142062741	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	4.7	-2.72	0.05616	0.353000	0.19868	-0.192000	0.11028	0.524000	0.24156	0.037000	0.20830	0.002000	0.18203	0.988000	0.63387	0.119:0.301:0.3505:0.2295	2.271	0.03841	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	531.43	39	chr11	47578042	.	C	A	531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=1.78;SOR=0.693	GT:AD:DP:GQ:PL	0/1:52,25:77:99:543,0,1422	9	0	1	0
chr11	48264006	48264006	C	T	exonic	OR4X1	.	nonsynonymous SNV	OR4X1:NM_001004726:exon1:c.C146T:p.A49V	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00499201	0.0057	0.0004	0.0014	0	0	0.0023	0.0110	0.0307	0.004987	771	154602	rs140161944	0.0033	0.0033	0.0023	0.0043	0.0331	0.0032	0.0032	0.0321	0.0317	0.0003	0.0019	0.0004	7.562e-05	1.873e-05	0.0151	0.0014	0.0038	0.0331	0.0021	0.0021	0.0017	0.0026	0.0301	0.0019	0.0019	0.0261	0.0246	0.0002	0	0.0014	0	0	0	0.0136	0.0020	0.0047	0.0301	0.641	0.04987	T	0.749	0.04825	T	0.016	0.17332	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.09	0.04745	N	4.05	0.03092	T	-0.01	0.07155	N	0.05	0.02179	-0.9392	0.42743	T	0.007	0.02399	T	9	0.0032618642	0.00056	T	.	.	.	0.058	0.16647	.	.	0.240491677333	0.23641	0.03274017999237801	0.03222	0.00236295596479	0.00204	0.209651574492	0.00796	T	0.004214	0.03621	T	-0.669274	0.00055	T	-0.709768	0.05307	T	0.00387996720140478	0.00041	T	0.265773	0.04346	T	0.08044628	0.18433	0.09165078	0.21558	0.08044628	0.18433	0.09165078	0.21558	-3.062	0.10865	T	.	.	0.094	0.14385	B	.	.	0.930220	0.13055	9.558	0.67536465930424483	0.08384	0.02843	0.07595	N	AEFBI	0.056275	0.10389	N	-0.76162368371316	0.14320	0.7123284	-0.647548850181261	0.18278	0.9757554	5.6347241608055E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	3.37	0.37692	-1.976000	0.01587	.	.	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.8957:0.0:0.1043	9.887	0.40439	120	0.95183	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.013587	0.017544	0.000000	0.000000	0.009146	0.018939	0.05	2389.43	39	chr11	48264006	.	C	T	2389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.591;DP=514;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.64;SOR=0.517	GT:AD:DP:GQ:PL	0/1:93,104:197:99:2401,0,2113	9	0	1	0
chr11	48489213	48489213	G	T	exonic	OR4A47	.	nonsynonymous SNV	OR4A47:NM_001005512:exon1:c.G421T:p.V141L	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0006	0.00638978	0.0036	0.0065	0.0006	0	0	4.499e-05	0	0.022	0.0016521	43	26028	rs140225065	0.0016	0.0016	0.0009	0.0022	0.0230	0.0015	0.0015	0.0221	0.0218	0.0056	0.0004	0	5.04e-05	1.873e-05	0.0016	1.169e-05	0.0019	0.0230	0.0026	0.0026	0.0024	0.0029	0.0218	0.0024	0.0023	0.0184	0.0171	0.0065	0	0.0015	0	0	0	0	1.471e-05	0.0009	0.0218	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.006	0.12133	B	0.167642	0.17470	N	0.477728	1	0.08975	N	.	.	.	8.73	0.00091	T	1.9	0.00456	N	0.059	0.03069	-0.9317	0.43889	T	0.000	0.00039	T	9	0.004602611	0.00096	T	.	.	.	0.039	0.10176	0.4	0.42917	0.223146558224	0.21909	0.07902714692286372	0.07837	.	.	0.255084812641	0.04323	T	0.001964	0.01375	T	-0.689937	0.00042	T	-0.746238	0.03635	T	0.0103718480954056	0.00142	T	0.0131987	0.00071	T	0.06599199	0.14156	0.0350572	0.02687	0.06599199	0.14155	0.0350572	0.02686	-2.521	0.05926	T	.	.	0.092	0.13644	B	.	.	-1.360572	0.00389	0.007	0.44482903904664561	0.03423	0.03422	0.08551	N	AEFGI	0.086973	0.17634	N	-1.40330003124112	0.02610	0.1154821	-1.45367064581369	0.02737	0.1264358	1.00665622533671E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	-2.2	0.06601	-4.868000	0.00205	.	.	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1502:0.3733:0.2083:0.2682	1.622	0.02552	166	0.93555	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011158	0.005208	0.000000	0.047619	0.000000	0.000000	0.000000	0.011450	0.05	1555.43	33	chr11	48489213	.	G	T	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.96;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.11;MQRankSum=-9.262;QD=15.1;ReadPosRankSum=-0.393;SOR=0.729	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1567,0,1258	9	0	1	0
chr11	56290288	56290288	A	C	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.T775G:p.L259V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00381174958625	.	.	5.781e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs765109539	2.259e-05	2.257e-05	9.537e-06	3.578e-05	0.0004	1.611e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.156	0.32891	T	0.267	0.31683	B	0.344	0.42549	B	0.000919	0.41128	D	0.000000	1	0.08975	N	1.28	0.32218	L	1.06	0.39781	T	-2.35	0.51968	N	0.04	0.01347	-1.0040	0.28755	T	0.087	0.33746	T	10	0.061759025	0.07791	T	0.003812	0.08899	T	0.056	0.15993	0.635	0.77142	0.251116650651	0.24721	0.04522739599680986	0.04466	0.0572116239721	0.06330	0.191624045372	0.00255	T	0.010139	0.09180	T	-0.502299	0.00555	T	-0.648776	0.09040	T	0.0939883940804619	0.11683	T	0.671533	0.28733	T	0.12239642	0.28762	0.10857522	0.26155	0.12239642	0.28762	0.10857522	0.26155	-5.277	0.39714	T	.	.	0.138	0.30157	B	.;.;.	.;.;.	2.182252	0.27816	17.59	0.92011275055576836	0.21348	0.01476	0.04917	N	AEI	0.035771	0.04658	N	-1.1527586603116	0.05735	0.262214	-1.25079469954746	0.05120	0.2431732	1.98023016112841E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	1.2	0.20181	-0.977000	0.03892	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.4807:0.2917:0.0863:0.1414	2.409	0.04150	187	0.92701	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2186.43	34	chr11	56290288	.	A	C	2186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.661;DP=704;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=-0.819;QD=15.73;ReadPosRankSum=-0.051;SOR=0.851	GT:AD:DP:GQ:PL	0/1:57,82:139:99:2198,0,1480	9	0	1	0
chr11	58579366	58579366	C	T	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C85T:p.P29S,ZFP91:NM_053023:exon1:c.C85T:p.P29S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0801902562118	.	.	0.0009	0	0	0	.	0	0	0.0012	3.23e-05	5	154602	rs779382392	3.73e-05	4.925e-05	1.177e-05	6.354e-05	0.0007	2.869e-05	2.59e-05	0.0005	0.0005	0	0	0	0	0	0	0	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	5.825700	0.999883	0.19853	N	0	0.06538	N	3.09	0.08371	T	-0.05	0.07736	N	0.217	0.24260	-0.9809	0.34794	T	0.015	0.05994	T	10	0.019084483	0.00422	T	0.08019	0.73405	D	0.065	0.18881	0.076	0.00544	0.043077524339	0.03247	0.18738349876981972	0.18656	0.217568787916	0.24277	0.836905419827	0.87621	D	0.044888	0.26955	T	-0.58295	0.00185	T	-0.693176	0.06207	T	0.139485094801999	0.16230	T	0.541246	0.18358	T	0.11964217	0.28167	0.15044881	0.35482	0.11964217	0.28167	0.15044881	0.35481	-5.231	0.39255	T	.	.	0.090	0.12418	B	.	.	1.624182	0.20745	14.89	0.98970857419782854	0.49520	0.36992	0.25660	N	AEFDGBHCI	0.059117	0.11140	N	-0.675706012313155	0.16715	0.8540628	-0.559142945571454	0.20563	1.108455	0.999999752783007	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.64	1.7	0.23359	0.863000	0.27567	-0.091000	0.12058	-0.480000	0.05071	0.189000	0.24175	0.003000	0.18671	0.243000	0.23080	0.0:0.8255:0.0:0.1745	5.169	0.14429	622	0.65860	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	166.43	29	chr11	58579366	.	C	T	166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.334;DP=199;ExcessHet=0;FS=6.455;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.732;SOR=2.245	GT:AD:DP:GQ:PL	0/1:3,6:9:64:178,0,64	9	0	1	0
chr11	59854659	59854659	T	C	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon7:c.A1114G:p.I372V	.	431	1090	1	0	0	1	0.000458505	.	.	.	1156724	Transcobalamin_I_deficiency|TCN1-related_disorder	MONDO:MONDO:0008659,MedGen:C0342700,OMIM:193090,Orphanet:2967|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	7.7e-05	0.00259585	0.0018	9.61e-05	8.655e-05	0.0002	0	4.497e-05	0.0022	0.0124	0.0015459	239	154602	rs367928670	0.0007	0.0007	0.0005	0.0010	0.0107	0.0007	0.0007	0.0102	0.0099	2.988e-05	0	0	5.04e-05	0	0.0005	6.566e-05	0.0010	0.0107	0.0003	0.0003	0.0001	0.0005	0.0097	0.0003	0.0002	0.0075	0.0067	7.216e-05	0	0	0	0	0	0	0	0	0.0097	1.0	0.00964	T	0.927	0.02804	T	0.0	0.02946	B	0.0	0.01387	B	0.343241	0.04200	N	1.521430	1	0.08975	N	0.22	0.09567	N	1.58	0.29085	T	0.08	0.06026	N	0.133	0.12913	-1.0803	0.07291	T	0.050	0.21182	T	10	0.013712496	0.00290	T	.	.	.	0.028	0.06331	.	.	0.0762999501168	0.06990	0.14673444843275024	0.14595	0.0153553775049	0.01465	0.271165788174	0.06294	T	0.016089	0.13370	T	-0.739658	0.00021	T	-0.824856	0.01357	T	0.0163169809208122	0.00402	T	0.266673	0.04389	T	0.04317561	0.06682	0.031243457	0.01687	0.04317561	0.06682	0.031243457	0.01687	-3.313	0.13906	T	.	.	0.066	0.02091	B	.	.	-2.361916	0.00044	0.001	0.1792928880162373	0.00543	0.00286	0.01538	N	AEFBI	0.021688	0.00994	N	-1.7987968915227	0.00548	0.02359869	-1.97483081129346	0.00346	0.01527598	0.999999999672323	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.06	-10.1	0.00330	-5.958000	0.00107	-6.391000	0.01411	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0751:0.4101:0.3297:0.1851	6.082	0.19168	783	0.47268	Domain of unknown function DUF4430	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	913.43	37	chr11	59854659	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.861;DP=412;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.604;SOR=0.545	GT:AD:DP:GQ:PL	0/1:58,40:98:99:925,0,1406	9	0	1	0
chr11	60936008	60936008	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon11:c.G2176A:p.G726R,TMEM132A:NM_178031:exon11:c.G2173A:p.G725R	.	296	1219	6	1	0	8	0.00327065	.	.	.	2732979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0111736579649	7.7e-05	.	8.772e-05	0	0	0	0	7.983e-05	0.0012	0.0003	6.47e-05	10	154602	rs376877652	6.458e-05	6.567e-05	5.332e-05	7.595e-05	0.0012	5.384e-05	4.997e-05	0.0005	0.0003	2.997e-05	4.489e-05	0	0	0	0.0012	4.23e-05	0.0001	0.0004	5.91e-05	5.906e-05	3.855e-05	8.058e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	7.351e-05	0	0.0006	0.07	0.35537	T	0.265	0.22761	T	0.007	0.15093	B	0.005	0.12133	B	0.021086	0.26903	N	0.310848	0.99993	0.19486	N	1.265	0.31966	L	2.59	0.26737	T	-0.46	0.14978	N	0.272	0.31478	-1.0361	0.18513	T	0.032	0.13942	T	10	0.050164193	0.04709	T	0.011174	0.28518	T	0.090	0.26093	0.456	0.52102	0.239305524855	0.23518	0.6592900376232924	0.65866	0.321246349146	0.34324	0.574830472469	0.49358	T	0.045112	0.27022	T	-0.353819	0.04492	T	-0.416011	0.31534	T	0.020498825237155	0.00750	T	0.746025	0.37907	T	0.06755542	0.14640	0.07307485	0.15839	0.06755542	0.14640	0.07307485	0.15838	-0.537	0.00606	T	.	.	0.114	0.24733	B	.;.;.	.;.;.	1.471354	0.18953	14.01	0.97500048430935593	0.34288	0.18746	0.20385	N	AEFDGBHCI	0.116644	0.22885	N	-0.619530819490481	0.18358	0.9524622	-0.529630515973079	0.21350	1.154533	0.999910410262142	0.45857	0.706298	0.61202	0	0.694456	0.67091	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.82	2.94	0.33188	0.216000	0.17370	1.222000	0.24983	0.672000	0.70159	0.007000	0.17678	0.666000	0.26041	0.634000	0.32262	0.0892:0.1645:0.5763:0.17	3.784	0.08210	595	0.68488	Transmembrane protein family 132, middle domain;.;Transmembrane protein family 132, middle 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	.	.	.	.	.	.	.	.	0.05	777.43	34	chr11	60936008	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=367;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.609;SOR=0.846	GT:AD:DP:GQ:PL	0/1:26,31:57:99:789,0,561	9	0	1	0
chr11	61258794	61258794	C	T	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.G2749A:p.G917R	.	413	1085	22	2	0	26	0.0118397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0213806881925	0.0023	0.000798722	0.0021	0.0007	0.0009	0	0.0014	0.0021	0.0051	0.0076	0.0018823	291	154602	rs142539738	0.0021	0.0020	0.0019	0.0022	0.0082	0.0020	0.0020	0.0077	0.0074	0.0003	0.0015	5.155e-05	2.637e-05	0.0010	0.0076	0.0019	0.0020	0.0082	0.0017	0.0017	0.0015	0.0020	0.0075	0.0015	0.0015	0.0056	0.0049	0.0005	0	0.0039	0	0	0.0010	0	0.0019	0.0024	0.0075	1.0	0.00964	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.244416	0.15642	N	0.529823	1	0.08975	N	-1.04	0.01097	N	0.11	0.61208	T	0.15	0.07736	N	0.062	0.06190	-0.9956	0.31136	T	0.043	0.18326	T	10	0.0057477653	0.00128	T	0.021381	0.44139	T	0.027	0.05988	0.185	0.09388	0.0138822411134	0.00435	0.10397906329037991	0.10327	0.242934635108	0.26798	0.276284873486	0.06980	T	0.007926	0.11716	T	-0.543212	0.00320	T	-0.548076	0.17511	T	0.000437647545597456	0.00003	T	0.528347	0.21082	T	0.03351433	0.03585	0.044080954	0.05631	0.028741755	0.02257	0.032279015	0.01938	-4.528	0.31253	T	.	.	0.087	0.11220	B	.;.;.	.;.;.	-0.737363	0.01236	0.063	0.27469530425493982	0.01365	0.00244	0.01352	N	AEFDBI	0.024243	0.01470	N	-1.87386442473662	0.00388	0.01669312	-1.82512283341602	0.00682	0.03034974	0.207515988317215	0.18199	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.81	-2.62	0.05793	-0.304000	0.08238	-0.777000	0.07471	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1691:0.2695:0.5614	5.514	0.16188	546	0.72524	.;.;.	.	.	.	.	.	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	0.004049	0.010101	0.000000	0.002941	0.000000	0.000000	0.003106	0.015267	0.05	762.43	42	chr11	61258794	.	C	T	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=401;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.892;SOR=0.604	GT:AD:DP:GQ:PL	0/1:33,33:66:99:774,0,745	9	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,13:80:26:.:.:26,0,1792:.	2	0	6	2
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,25:78:99:.:.:457,0,1390:.	0	0	10	0
chr11	64241812	64241812	C	A	exonic	LOC114841035	.	nonsynonymous SNV	LOC114841035:NM_001370414:exon1:c.C533A:p.P178H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	.	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	36.59	2	chr11	64241812	.	C	A	36.59	.	AC=2;AF=0.143;AN=14;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.3;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr11	64265057	64265057	C	A	exonic	PLCB3	.	nonsynonymous SNV	PLCB3:NM_001184883:exon21:c.C2558A:p.P853H,PLCB3:NM_000932:exon23:c.C2759A:p.P920H,PLCB3:NM_001316314:exon23:c.C2759A:p.P920H	.	.	.	.	.	.	.	.	.	.	.	784052	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	0.0116511235889	.	0.000199681	0.0028	0.0006	0	0	0	0	0.0054	0.0079	0.0006209	96	154602	rs538437430	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0066	0.0064	3.13e-05	0	0	2.747e-05	0	0	0	0.0003	0.0070	8.652e-05	0.0002	3.901e-05	0.0001	0.0028	5.019e-05	4.01e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0028	0.011	0.55530	D	0.045	0.53426	D	0.008	0.14655	B	0.007	0.12992	B	0.866311	0.07147	N	1.059890	0.934267	0.40790	D	2.365	0.68172	M	2.58	0.13434	T	-1.11	0.31375	N	0.361	0.40364	-1.1094	0.03122	T	0.038	0.16376	T	10	0.0042381287	0.00085	T	0.011651	0.29486	T	0.037	0.09474	0.198	0.11110	0.161926535498	0.15789	0.2539175356855013	0.25305	0.536939426381	0.51015	0.414970636368	0.27143	T	0.369244	0.73399	T	-0.201638	0.20570	T	-0.527416	0.19545	T	0.0396950062817707	0.03635	T	0.69773	0.30785	T	0.13982064	0.32284	0.118715405	0.28657	0.13982064	0.32283	0.118715405	0.28656	-5.472	0.41606	T	.	.	0.084	0.09578	B	.;.;.	.;.;.	2.508851	0.32397	19.03	0.98816424851867668	0.46704	0.53387	0.29359	D	AEFBI	0.156574	0.28195	N	-0.449683494786689	0.23750	1.277636	-0.397509466736969	0.25071	1.376585	0.996838598920008	0.35047	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.02	4.1	0.47196	2.387000	0.44043	1.641000	0.27792	0.594000	0.32500	0.143000	0.23551	0.041000	0.21590	0.459000	0.28096	0.0:0.8011:0.1989:0.0	11.305	0.48568	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000524	0.000000	0.001401	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	507.43	35	chr11	64265057	.	C	A	507.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.406;DP=330;ExcessHet=0;FS=8.232;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.23;SOR=1.948	GT:AD:DP:GQ:PL	0/1:13,19:32:99:519,0,346	9	0	1	0
chr11	64300949	64300949	A	G	exonic	CATSPERZ	.	nonsynonymous SNV	CATSPERZ:NM_001039496:exon2:c.A314G:p.N105S	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0006	0.00379393	0.0105	0.0055	0.0010	0.0387	0	0.0002	0.0170	0.0256	0.0025291	391	154602	rs150476596	0.0018	0.0018	0.0014	0.0022	0.0264	0.0017	0.0017	0.0251	0.0245	0.0030	0.0006	0	0.0264	0	0.0019	5.022e-05	0.0020	0.0154	0.0021	0.0021	0.0018	0.0023	0.0149	0.0019	0.0018	0.0121	0.0111	0.0031	0	0.0026	0	0.0126	0	0	7.351e-05	0.0014	0.0149	0.735	0.03753	T	0.809	0.03956	T	0.278	0.32022	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.94	0.25118	N	0.028	0.00618	-1.0112	0.26541	T	0.025	0.10509	T	9	0.0033932328	0.00059	T	.	.	.	0.033	0.08068	.	.	0.0297737177859	0.01360	0.014453802351999043	0.01402	0.411176588507	0.41879	0.262377500534	0.05176	T	0.011796	0.10472	T	-0.728626	0.00024	T	-0.806423	0.01747	T	0.0145003614919008	0.00295	T	0.258474	0.04102	T	0.023633495	0.01120	0.031920515	0.01850	0.023633495	0.01120	0.031920515	0.01850	-2.037	0.03323	T	.	.	0.079	0.07130	B	.;.	.;.	-1.535117	0.00274	0.004	0.3447500820596659	0.02111	0.03617	0.08854	N	ALL	0.045794	0.07529	N	-1.69730261067443	0.00851	0.03682748	-1.82863139800257	0.00672	0.02988393	0.999999999999998	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	4.23	-8.46	0.00822	-2.069000	0.01469	-2.984000	0.03168	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3647:0.2068:0.2235:0.205	0.440	0.00452	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	0.001013	0.000000	0.001366	0.002959	0.000000	0.000000	0.003086	0.000000	0.05	644.43	34	chr11	64300949	.	A	G	644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.645;DP=376;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.23;SOR=0.547	GT:AD:DP:GQ:PL	0/1:36,28:64:99:656,0,893	9	0	1	0
chr11	64343799	64343799	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon13:c.C1340T:p.P447L	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.000798722	0.0043	0.0003	0	0	0	0	0.0036	0.0191	0.0012354	191	154602	rs555368347	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	3.047e-05	0	0	2.604e-05	0	0	9.118e-07	0.0006	0.0119	0.0003	0.0003	0.0002	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.125	0.27310	T	0.084	0.41239	T	0.911	0.50336	P	0.602	0.50862	P	.	.	.	.	0.957541	0.38029	D	0.345	0.11182	N	2.08	0.20255	T	-2.46	0.53736	N	0.255	0.28849	-1.1114	0.02952	T	0.041	0.17785	T	9	0.0072626173	0.00165	T	.	.	.	0.044	0.11924	0.218	0.13932	0.158396225186	0.15383	0.3786413403755466	0.37779	0.389253285072	0.40171	0.744593024254	0.73649	T	0.018555	0.14935	T	-0.604983	0.00136	T	-0.631405	0.10309	T	0.0982954278092049	0.12168	T	0.728627	0.34357	T	0.042876672	0.06583	0.075484	0.16623	0.042876672	0.06583	0.075484	0.16623	-3.977	0.23458	T	.	.	0.12	0.24767	B	.	.	3.089314	0.41587	21.4	0.99658155285293848	0.77757	0.47036	0.27893	N	AEFGBCI	0.111854	0.22131	N	-0.307399401469398	0.28866	1.595823	-0.386381558142843	0.25403	1.39675	0.999996098820751	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.596874	0.31795	0	0.584449	0.35598	0	.	.	3.53	2.61	0.30255	0.227000	0.17575	3.220000	0.36848	0.598000	0.34611	0.000000	0.06391	0.920000	0.28304	0.141000	0.19983	0.0:0.8706:0.0:0.1294	6.997	0.23965	596	0.68392	.	.	.	.	.	.	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	0.001012	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	436.43	34	chr11	64343799	.	C	T	436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.357;DP=379;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.899;SOR=0.777	GT:AD:DP:GQ:PL	0/1:24,20:44:99:448,0,558	9	0	1	0
chr11	65357013	65357013	A	G	exonic	TIGD3	.	nonsynonymous SNV	TIGD3:NM_145719:exon2:c.A1205G:p.E402G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0118198401927	.	0.000199681	4.123e-05	0	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs563208960	3.078e-05	3.078e-05	1.634e-05	4.538e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.036	0.43393	D	0.015	0.61642	D	0.455	0.36245	P	0.099	0.30579	B	.	.	.	.	0.987029	0.24559	N	1.935	0.51832	L	2.2	0.18570	T	-1.74	0.41239	N	0.108	0.09349	-1.0572	0.12465	T	0.034	0.14509	T	9	0.04383129	0.03274	T	0.01182	0.29821	T	0.054	0.15330	0.177	0.08379	0.379881503574	0.37595	0.27561634812381913	0.27474	0.451291634778	0.44877	0.377557873726	0.21909	T	0.012646	0.11078	T	-0.360443	0.04105	T	-0.45098	0.27589	T	0.109315540322051	0.13352	T	0.536546	0.18022	T	0.11068053	0.26160	0.15917616	0.37136	0.11068053	0.26160	0.15917616	0.37135	-3.93	0.22753	T	.	.	0.070	0.03407	B	.	.	1.857241	0.23593	16.08	0.96597423612718536	0.30394	0.43475	0.27106	N	AEFDBI	0.093167	0.18855	N	-0.369998237514702	0.26543	1.449467	-0.33897025269862	0.26852	1.48594	0.999986140623527	0.51787	0.625279	0.40028	0	0.588066	0.40923	0	0.687403	0.62504	0	0.63947	0.58350	0	.	.	3.83	3.83	0.43287	1.748000	0.37935	3.970000	0.40818	0.756000	0.94297	0.979000	0.35152	0.999000	0.35428	0.502000	0.29062	1.0:0.0:0.0:0.0	9.598	0.38752	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1173.43	36	chr11	65357013	.	A	G	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.932;DP=410;ExcessHet=0;FS=3.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1185,0,1226	9	0	1	0
chr11	65619571	65619571	C	A	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon7:c.C1740A:p.S580R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0260204772191	.	.	1.972e-05	0	0	0	0	0	0.0014	6.844e-05	1.94e-05	3	154602	rs768130232	1.098e-05	1.231e-05	8.192e-06	1.38e-05	0.0002	6.5e-06	5.26e-06	0.0001	9.479e-05	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.518	0.07307	T	0.296	0.20615	T	0.995	0.67487	D	0.979	0.74454	D	0.000254	0.46924	D	0.000000	0.993757	0.42042	D	0.57	0.15267	N	4.96	0.01366	T	-0.86	0.23372	N	0.536	0.56403	-0.6188	0.64038	T	0.008	0.02638	T	10	0.393659	0.55071	T	0.02602	0.48957	D	0.149	0.39377	0.223	0.14665	0.632427088915	0.62941	0.3898877724037999	0.38903	.	.	0.552342355251	0.46188	T	0.013292	0.11527	T	-0.262084	0.12658	T	-0.432095	0.29698	T	0.30573595214856	0.25239	T	0.767723	0.39623	T	0.07127647	0.15769	0.0631928	0.12483	0.07127647	0.15768	0.0631928	0.12482	-4.149	0.26009	T	.	.	0.667	0.71619	P	.	.	3.112126	0.41986	21.5	0.99593412049147301	0.73748	0.94678	0.61956	D	AEFGBCI	0.399486	0.47475	N	0.141396916745868	0.48405	3.053185	0.163912540170495	0.47884	3.012009	0.999999918100106	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.96	0.45097	2.738000	0.47075	1.763000	0.28569	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.8252:0.0:0.1748	8.585	0.32817	275	0.89190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	357.43	35	chr11	65619571	.	C	A	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.022;DP=371;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=-0.219;SOR=0.437	GT:AD:DP:GQ:PL	0/1:38,17:55:99:369,0,972	9	0	1	0
chr11	66424862	66424862	G	A	exonic	NPAS4	.	nonsynonymous SNV	NPAS4:NM_001318804:exon6:c.G1342A:p.G448R,NPAS4:NM_178864:exon7:c.G1972A:p.G658R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0136440661788	0.0002	0.000399361	0.0004	9.829e-05	0	0	0	1.523e-05	0.0011	0.0030	0.0003493	54	154602	rs367622005	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0.0001	2.247e-05	0	2.519e-05	0	0.0002	4.499e-06	9.946e-05	0.0035	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	8.711e-05	0.0024	0.0020	7.216e-05	0	0	0	0	0	0	2.94e-05	0	0.0037	0.001	0.78490	D	0.209	0.26798	T	1.0	0.90584	D	0.927	0.66185	D	0.001225	0.39743	N	0.114773	0.999192	0.21520	N	1.1	0.28011	L	0.88	0.46028	T	-0.67	0.19297	N	0.557	0.58202	-1.0481	0.14932	T	0.114	0.40627	T	10	0.02031669	0.00466	T	0.013644	0.33196	T	0.177	0.44549	0.095	0.01241	0.639847762547	0.63687	0.5123340132460276	0.51155	0.393275633366	0.40503	0.577464282513	0.49729	T	0.131742	0.46141	T	-0.421641	0.01670	T	-0.382112	0.35475	T	0.0784853886198912	0.09792	T	0.816518	0.47234	T	0.15880162	0.35706	0.17035459	0.39137	0.15880162	0.35706	0.17035459	0.39137	-6.176	0.47728	T	.	.	0.114	0.22789	B	.	.	3.677850	0.52329	23.2	0.99855031823936624	0.93368	0.24297	0.22349	N	AEFDGBI	0.062333	0.11976	N	0.22006350679832	0.52172	3.393106	0.173108387041882	0.48379	3.054579	0.542160950502046	0.21262	0.554377	0.28877	0	0.588066	0.40923	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	3.83	3.83	0.43287	3.084000	0.49841	7.983000	0.76082	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.727000	0.35000	0.0:0.0:0.7802:0.2198	9.022	0.35366	55	0.97548	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1698.43	34	chr11	66424862	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=439;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.825;SOR=0.56	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1710,0,1333	9	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,31:91:99:.:.:213,0,1042:.	4	0	6	0
chr11	67438763	67438763	C	T	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon10:c.G1252A:p.A418T,CORO1B:NM_001018070:exon11:c.G1252A:p.A418T	.	413	1084	22	3	0	28	0.0127505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0088	0.00439297	0.0149	0.0027	0.0156	0	0	0.0239	0.0089	0.0085	0.0013519	209	154602	rs11601245	0.0096	0.0095	0.0097	0.0095	0.0119	0.0094	0.0094	0.0107	0.0106	0.0017	0.0063	0.0094	2.66e-05	0.0019	0.0119	0.0109	0.0089	0.0061	0.0065	0.0065	0.0070	0.0061	0.0107	0.0062	0.0061	0.0100	0.0098	0.0021	0	0.0065	0.0063	0	0.0015	0.0137	0.0107	0.0080	0.0048	0.77	0.03382	T	0.444	0.13177	T	0.02	0.18235	B	0.006	0.12133	B	0.261711	0.15302	N	0.546626	1	0.08975	N	1.01	0.25309	L	0.05	0.61923	T	0.12	0.05604	N	0.062	0.03502	-1.0497	0.14481	T	0.055	0.23110	T	10	0.0027342439	0.00043	T	.	.	.	0.017	0.02790	.	.	0.391000631824	0.38715	0.31806998235902945	0.31719	0.286447106532	0.31039	0.366126835346	0.20275	T	0.077863	0.35757	T	-0.645113	0.00078	T	-0.690042	0.06386	T	0.000803848268730522	0.00007	T	0.386161	0.09499	T	0.024548657	0.01297	0.040052857	0.04240	0.024548657	0.01297	0.040052857	0.04239	-4.299	0.28163	T	.	.	0.070	0.03301	B	.;.	.;.	0.504439	0.08736	5.509	0.91855835879007552	0.21170	0.11437	0.16633	N	ALL	0.202325	0.32892	N	-1.40426417976963	0.02601	0.1150833	-1.38738850081405	0.03386	0.1578181	0.999999999992869	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.58	-0.81	0.10313	-1.556000	0.02272	-4.936000	0.01919	-1.563000	0.00944	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3033:0.4363:0.0:0.2605	3.418	0.06957	662	0.61715	.;.	DOC2GP|DOC2GP|DOC2GP	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	RHOD|RHOD|RHOD|RHOD|RHOD|RHOD	Adipose_Visceral_Omentum|Esophagus_Mucosa|Heart_Left_Ventricle|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015832	0.005319	0.019231	0.014706	0.000000	0.043103	0.021875	0.007692	0.05	354.43	33	chr11	67438763	.	C	T	354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.517;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.03;SOR=0.804	GT:AD:DP:GQ:PL	0/1:10,17:27:99:366,0,205	9	0	1	0
chr11	67497540	67497540	G	A	exonic	PITPNM1	.	nonsynonymous SNV	PITPNM1:NM_001130848:exon13:c.C1922T:p.P641L,PITPNM1:NM_004910:exon13:c.C1922T:p.P641L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0109824924211	.	0.000199681	0.0004	0	0	0	0	0	0.0011	0.0028	0.000304	47	154602	rs547678982	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	0.0001	0.0031	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.319e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.796	0.03150	T	0.374	0.16280	T	0.0	0.02946	B	0.001	0.04355	B	0.021354	0.26851	N	0.259048	0.998083	0.44492	D	0.975	0.24501	L	0.97	0.42888	T	0.65	0.02332	N	0.224	0.25130	-1.0926	0.05112	T	0.058	0.24242	T	10	0.003138572	0.00052	T	0.010982	0.28125	T	0.022	0.04323	0.211	0.12923	0.143184338766	0.13958	0.3687538202570981	0.36789	0.451750774694	0.44918	0.455125331879	0.32645	T	0.046381	0.27407	T	-0.574681	0.00207	T	-0.603192	0.12545	T	0.0126445671694394	0.00212	T	0.723028	0.33655	T	0.02730373	0.01904	0.026212642	0.00698	0.02730373	0.01904	0.026212642	0.00698	-2.901	0.09978	T	.	.	0.068	0.03698	B	.;.;.	.;.;.	1.469114	0.18928	14.00	0.76300263350091491	0.11413	0.09142	0.14957	N	AEFDGBI	0.092949	0.18813	N	-0.73292821376328	0.15100	0.7581106	-0.688828952428065	0.17239	0.9157695	0.631676907626715	0.21974	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.48	1.56	0.22423	0.257000	0.18137	2.541000	0.33216	0.676000	0.76740	0.021000	0.19753	0.997000	0.33255	0.928000	0.46473	0.1073:0.0:0.6988:0.1939	5.661	0.16945	764	0.49969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1273.43	37	chr11	67497540	.	G	A	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.326;DP=479;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.099;SOR=1.044	GT:AD:DP:GQ:PL	0/1:78,53:131:99:1285,0,2019	9	0	1	0
chr11	67628056	67628056	G	A	exonic	NUDT8	.	nonsynonymous SNV	NUDT8:NM_001243750:exon4:c.C601T:p.R201C	.	418	1099	4	1	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0044	0.00259585	0.0043	0.0016	0.0017	0.0001	0.0005	0.0068	0.0036	0.0015	0.0042432	656	154602	rs150272748	0.0068	0.0067	0.0071	0.0064	0.0082	0.0066	0.0066	0.0081	0.0080	0.0010	0.0024	0.0004	0.0001	0.0011	0.0003	0.0082	0.0051	0.0014	0.0040	0.0040	0.0045	0.0035	0.0073	0.0037	0.0036	0.0068	0.0066	0.0012	0	0.0027	0	0.0006	0.0003	0	0.0073	0.0033	0.0023	0.192	0.20988	T	0.089	0.40426	T	0.007	0.14184	B	0.001	0.04355	B	0.000840	0.00697	N	4.337450	1	0.08975	N	1.67	0.42885	L	0.81	0.48460	T	-2.84	0.59873	D	0.08	0.05542	-1.0656	0.10409	T	0.063	0.26029	T	9	0.0054932237	0.00121	T	.	.	.	0.044	0.11924	.	.	0.0666544352282	0.05500	0.2363893085764653	0.23553	0.372883306506	0.38771	0.268606990576	0.05959	T	0.032663	0.22583	T	-0.635776	0.00088	T	-0.679485	0.07015	T	0.0120420132471583	0.00190	T	0.649435	0.26018	T	0.08079716	0.18531	0.05799015	0.10639	0.08079716	0.18531	0.05799015	0.10639	-6.162	0.47615	T	.	.	0.148	0.32661	B	.	.	1.324097	0.17287	13.07	0.79743595876658846	0.12881	0.03031	0.07915	N	AEFDBHCIJ	0.185312	0.31264	N	-1.10863855483338	0.06488	0.2988332	-1.16057432380628	0.06580	0.3171883	0.999986890519266	0.51787	0.730579	0.87903	0	0.709663	0.81188	0	0.749866	0.98131	0	0.655142	0.61905	0	.	.	4.28	0.107	0.13849	-0.236000	0.09019	0.644000	0.20348	-0.263000	0.06870	0.000000	0.06391	0.001000	0.17328	0.348000	0.25613	0.2943:0.164:0.5417:0.0	4.436	0.10975	774	0.48577	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	900.43	35	chr11	67628056	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.74;DP=435;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.923;SOR=0.603	GT:AD:DP:GQ:PL	0/1:64,36:100:99:912,0,1461	9	0	1	0
chr11	71484352	71484352	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon15:c.G1360A:p.V454I	.	425	1081	16	0	0	16	0.00734619	.	.	.	3214684	NADSYN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0002	0.00399361	0.0027	9.615e-05	0.0003	0.0001	0	1.5e-05	0.0077	0.0189	0.0022639	350	154602	rs148415329	0.0011	0.0011	0.0006	0.0016	0.0170	0.0011	0.0011	0.0163	0.0160	2.987e-05	0.0002	3.826e-05	2.519e-05	0	0.0016	5.756e-05	0.0013	0.0170	0.0005	0.0005	0.0003	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	7.213e-05	0	6.531e-05	0	0	0	0	2.939e-05	0.0005	0.0151	0.792	0.06735	T	0.836	0.07150	T	0.0	0.02946	B	0.004	0.10090	B	0.700319	0.10100	N	0.832386	0.999735	0.20745	N	-0.67	0.02046	N	0.98	0.42122	T	-0.02	0.08340	N	0.195	0.24634	-0.9915	0.32218	T	0.041	0.17530	T	10	0.0025158525	0.00038	T	.	.	.	0.062	0.17934	.	.	0.314716216878	0.31082	0.26289276608385903	0.26202	0.136715592269	0.15421	0.311885774136	0.12192	T	0.027959	0.20357	T	-0.622557	0.00106	T	-0.652756	0.08762	T	0.00427529198014189	0.00046	T	0.864413	0.56401	D	0.090329	0.21133	0.045137636	0.06006	0.090329	0.21133	0.045137636	0.06006	-5.864	0.45127	T	0.08658108714127821	0.04998	0.066	0.04477	B	.;.;.	.;.;.	-0.214152	0.03019	0.460	0.71500890905536363	0.09650	0.36589	0.25567	N	AEFGBCI	0.041965	0.06451	N	-1.12421428740996	0.06215	0.2854839	-1.09787123593027	0.07742	0.377797	0.037599251593802	0.14305	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-3.57	0.04316	0.189000	0.16845	.	.	-0.113000	0.14837	0.043000	0.21118	0.000000	0.08366	0.644000	0.32530	0.6271:0.1526:0.2204:0.0	6.357	0.20613	628	0.65206	NAD/GMP synthase;NAD/GMP synthase;NAD/GMP synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.05	1885.43	34	chr11	71484352	.	G	A	1885.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.413;DP=490;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.658;SOR=0.87	GT:AD:DP:GQ:PL	0/1:93,85:178:99:1897,0,2099	9	0	1	0
chr11	72014238	72014238	G	C	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.C3265G:p.Q1089E,NUMA1:NM_001286561:exon16:c.C3265G:p.Q1089E	Leukemia, acute promyelocytic, somatic	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00188114452155	0.0004	0.000798722	0.0009	9.688e-05	0.0003	0	0.0009	0.0006	0.0011	0.0030	0.0007438	115	154602	rs147873282	0.0007	0.0007	0.0006	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	5.974e-05	0.0003	0.0037	0	0.0007	0.0017	0.0006	0.0008	0.0025	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	0.0002	0	0.0001	0.0023	0	0.0015	0	0.0007	0.0005	0.0019	0.272	0.15930	T	0.807	0.07999	T	0.0	0.02946	B	0.0	0.04355	B	0.894660	0.07317	N	1.054400	1	0.08975	N	1.525	0.38595	L	2.84	0.10674	T	0.5	0.04306	N	0.057	0.06990	-0.9568	0.39771	T	0.018	0.07423	T	9	0.0072698295	0.00165	T	0.001881	0.03299	T	0.038	0.09825	.	.	0.246926113748	0.24311	0.041346511919532654	0.04079	0.376394756243	0.39079	0.241194188595	0.02898	T	0.053795	0.29543	T	-0.684952	0.00045	T	-0.760654	0.03089	T	0.0102288284425673	0.00139	T	0.721228	0.33447	T	0.042275786	0.06381	0.041741006	0.04812	0.042275786	0.06381	0.041741006	0.04812	-2.89	0.09054	T	.	.	0.080	0.07985	B	.;.;.;.	.;.;.;.	1.193002	0.15842	12.14	0.67876808608349648	0.08487	0.24602	0.22444	N	AEFDGBCIJ	0.081487	0.16488	N	-0.782249958276092	0.13772	0.6809365	-0.766044960950279	0.15329	0.8056323	0.999990438604095	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.58	2.58	0.30011	0.441000	0.21325	.	.	0.676000	0.76740	0.000000	0.06391	0.996000	0.32793	0.686000	0.33718	0.0933:0.3932:0.3759:0.1376	4.014	0.09123	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2407.43	34	chr11	72014238	.	G	C	2407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.995;SOR=0.733	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2419,0,2792	9	0	1	0
chr11	75983505	75983505	A	C	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon8:c.A818C:p.Q273P	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00527099311521	0.0030	0.00219649	0.0024	0.0008	0.0013	0	0.0002	0.0035	0.0033	0.0021	0.0025032	387	154602	rs61749241	0.0037	0.0037	0.0038	0.0037	0.0087	0.0036	0.0036	0.0068	0.0061	0.0010	0.0024	0.0058	7.613e-05	0.0003	0.0087	0.0042	0.0043	0.0020	0.0025	0.0025	0.0027	0.0022	0.0041	0.0023	0.0022	0.0032	0.0031	0.0007	0	0.0041	0.0043	0	0.0002	0.0204	0.0036	0.0043	0.0017	0.049	0.39820	D	0.262	0.26226	T	0.45	0.36066	B	0.152	0.34249	B	0.015458	0.28243	N	0.429335	0.936665	0.81001	D	2.66	0.77858	M	1.47	0.31987	T	-2.93	0.63901	D	0.414	0.45426	-1.0991	0.04202	T	0.055	0.23338	T	10	0.0083040595	0.00188	T	0.005271	0.13464	T	0.069	0.20116	.	.	0.187035705434	0.18338	0.6951477732526464	0.69455	0.710065838509	0.61666	0.401450872421	0.25271	T	0.291091	0.66385	T	-0.296669	0.08977	T	-0.198791	0.54761	T	0.0304529181259057	0.02060	T	0.775622	0.40735	T	0.8479153	0.87182	0.8458338	0.91225	0.8479153	0.87184	0.8458338	0.91226	-7.097	0.54739	T	.	.	0.559	0.67191	A	.;.	.;.	3.806245	0.54877	23.5	0.99170220053341651	0.54355	0.96249	0.68223	D	AEFDGBI	0.500394	0.53367	D	0.173187702427738	0.49914	3.18672	0.292028943857175	0.55074	3.670746	0.999994278177294	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	2.550000	0.45472	8.026000	0.76252	0.726000	0.85437	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.692	0.62033	782	0.47442	.;.	.	.	.	.	.	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	0.008560	0.000000	0.006793	0.014620	0.000000	0.017241	0.012195	0.007576	0.05	1277.43	33	chr11	75983505	.	A	C	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.2;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-1.052;SOR=0.654	GT:AD:DP:GQ:PL	0/1:84,60:144:99:1289,0,2004	9	0	1	0
chr11	78101029	78101029	C	T	exonic	ALG8	.	nonsynonymous SNV	ALG8:NM_024079:exon13:c.G1516A:p.A506T	Congenital disorder of glycosylation, type Ih	0	1508	14	0	0	14	0.00462046	.	.	.	868843	ALG8_congenital_disorder_of_glycosylation|ALG8-related_disorder	MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.102	0.0348861890714	0.0003	0.000998403	0.0005	9.625e-05	0.0006	0.0001	0	0.0002	0.0022	0.0019	0.0004398	68	154602	rs149692072	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0017	0.0015	0	0.0005	3.826e-05	2.519e-05	0	0.0028	8.004e-05	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0027	0.671	0.32929	T	0.293	0.20811	T	0.007	0.14184	B	0.033	0.22329	B	0.002315	0.36806	N	0.300661	0.999298	0.81001	D	1.725	0.44537	L	-1.74	0.83413	D	-0.73	0.29323	N	0.215	0.24010	-0.6916	0.60833	T	0.250	0.61912	T	10	0.02481255	0.00696	T	0.034886	0.55978	D	0.482	0.77206	.	.	0.888515215165	0.88741	0.3929556972325702	0.39210	0.161159105999	0.18189	0.417583346367	0.27505	T	0.156684	0.49896	T	-0.227984	0.16915	T	-0.11349	0.62332	T	0.0133918986548091	0.00242	T	0.842016	0.51794	T	0.068263814	0.14856	0.08404729	0.19305	0.087290436	0.20320	0.08441477	0.19418	-7.074	0.54573	T	0.1575883449238142	0.19039	0.106	0.27910	B	.;.	.;.	2.614910	0.33970	19.49	0.93343155844953485	0.23075	0.87664	0.47279	D	AEFDBCI	0.333900	0.43284	N	0.156583891975323	0.49124	3.116352	0.195561650432476	0.49602	3.161542	0.999998618531933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	4.01	0.45821	1.304000	0.33087	3.303000	0.37399	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.3254:0.6746:0.0:0.0	12.583	0.55752	617	0.66297	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1346.43	36	chr11	78101029	.	C	T	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.085;DP=469;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.625;SOR=0.562	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1358,0,1546	9	0	1	0
chr11	78670175	78670175	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.A6170G:p.Y2057C	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.127327623041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.585	0.75554	M	-3.09	0.92613	D	-8.4	0.97138	D	0.946	0.95374	0.839	0.94891	D	0.852	0.95070	D	9	0.9491217	0.94244	D	0.127328	0.80911	D	0.872	0.96170	0.853	0.95376	0.735306291586	0.73294	0.793135059448041	0.79266	1.06936415736	0.76758	0.878462195396	0.93753	D	0.796258	0.94757	D	0.453792	0.92648	D	0.414065	0.92557	D	0.998407900333405	0.94057	D	0.994989	0.98304	D	0.88146806	0.89788	0.7919557	0.87767	0.88146806	0.89789	0.7919557	0.87767	-10.06	0.74270	D	0.5919626899584196	0.65877	0.573	0.67777	P	.;.	.;.	5.639025	0.92730	33	0.99787626615586533	0.87396	0.96125	0.67647	D	AEFBI	0.860166	0.77798	D	0.676228951260152	0.78074	6.799048	0.633167150646773	0.77361	6.664816	0.562558750243507	0.21426	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.78	4.78	0.60666	6.118000	0.71287	6.077000	0.53311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.774	0.69335	871	0.31377	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2132.43	34	chr11	78670175	.	T	C	2132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.68;DP=441;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.915;SOR=0.624	GT:AD:DP:GQ:PL	0/1:57,70:127:99:2144,0,1382	9	0	1	0
chr11	93706835	93706835	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon18:c.C5687T:p.P1896L	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0007	0.00638978	0.0043	0.0023	0	0.0225	0	0.0007	0.0083	0.0083	0.0009702	150	154602	rs149280308	0.0010	0.0009	0.0008	0.0011	0.0151	0.0009	0.0009	0.0140	0.0136	0.0006	0.0001	0.0011	0.0151	2.032e-05	0.0004	9.277e-05	0.0014	0.0075	0.0013	0.0013	0.0010	0.0015	0.0174	0.0011	0.0011	0.0145	0.0134	0.0008	0	0.0002	0.0009	0.0174	0	0	0.0002	0	0.0091	0.003	0.68238	D	0.014	0.63109	D	0.628	0.40146	P	0.063	0.27082	B	0.644340	0.05886	N	1.252410	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.71	0.90371	D	0.098	0.07949	-1.0193	0.23943	T	0.028	0.11926	T	10	0.0043031275	0.00087	T	.	.	.	0.046	0.12618	.	.	0.126345400529	0.12197	0.052836663715717595	0.05225	0.119112823779	0.13412	0.236834675074	0.02512	T	0.061598	0.44768	T	-0.526236	0.00404	T	-0.516354	0.20664	T	0.0169105972932362	0.00443	T	0.692831	0.30243	T	0.049719047	0.08872	0.08288143	0.18950	0.049719047	0.08871	0.08288143	0.18949	-3.983	0.23548	T	.	.	0.108	0.31906	B	.;.;.	.;.;.	1.394752	0.18080	13.54	0.98494912389534894	0.42144	0.02845	0.07598	N	AEFBI	0.030862	0.03186	N	-0.495069816671846	0.22241	1.186232	-0.573735770833667	0.20179	1.086008	2.68716967240464E-4	0.06244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.14	2.96	0.33383	0.617000	0.24053	1.472000	0.26760	0.599000	0.40250	0.001000	0.13787	0.004000	0.18990	0.003000	0.05239	0.2604:0.6333:0.0:0.1063	4.998	0.13594	833	0.38804	.;.;.	.	.	.	.	.	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	0.001250	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.05	770.43	33	chr11	93706835	.	C	T	770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.369;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.18;SOR=0.708	GT:AD:DP:GQ:PL	0/1:53,37:90:99:782,0,1234	9	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi 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	.	.	.	.	.	.	.	.	0.1667	162.04	43	chr11	94618061	.	G	C	162.04	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.092;DP=573;ExcessHet=0.7463;FS=267.11;InbreedingCoeff=-0.2199;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.845;SOR=9.364	GT:AD:DP:GQ:PL	0/1:34,12:46:47:47,0,513	6	0	3	1
chr11	100299191	100299191	A	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon17:c.A2193C:p.E731D,CNTN5:NM_001243270:exon19:c.A2415C:p.E805D,CNTN5:NM_001243271:exon20:c.A2415C:p.E805D,CNTN5:NM_014361:exon20:c.A2415C:p.E805D	.	433	1075	14	0	0	14	0.0064695	.	.	.	701514	CNTN5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	8.5e-05	0.00239617	0.0025	0	0.0002	0	0	0.0004	0.0040	0.0156	0.001727	267	154602	rs200512456	0.0009	0.0009	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0	0.0002	0.0019	0	1.881e-05	0.0026	0.0001	0.0012	0.0120	0.0004	0.0004	0.0002	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	0	0	0.0003	0.0009	0	0	0	5.919e-05	0.0019	0.0089	0.471	0.91255	T	0.158	0.31629	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.67	0.16346	N	0.35	0.58029	T	-0.12	0.57762	N	0.563	0.58883	-0.8493	0.52017	T	0.218	0.58007	T	10	0.012979388	0.00277	T	.	.	.	0.255	0.56562	0.429	0.47680	0.703283205912	0.70070	0.483144350214152	0.48234	0.196112893007	0.21964	0.648430585861	0.59763	T	0.103307	0.41184	T	-0.273096	0.11414	T	-0.153383	0.58942	T	0.127006016940576	0.15102	T	0.864214	0.56597	D	0.2177727	0.44269	0.11767534	0.28406	0.2177727	0.44269	0.11767534	0.28405	-4.128	0.33872	T	.	.	0.163	0.46296	B	.;.;.;.;.;.	.;.;.;.;.;.	3.600165	0.50844	23.0	0.99700616506739681	0.80591	0.95189	0.63766	D	AEFI	0.836621	0.75436	D	0.415686442030167	0.62284	4.441803	0.428819024332631	0.63367	4.569113	6.96455612121206E-4	0.07645	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	4.49	0.54177	4.802000	0.62233	6.936000	0.56975	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9262:0.0:0.0738:0.0	10.873	0.46104	919	0.19497	.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.05	409.43	34	chr11	100299191	.	A	C	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.492;DP=357;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0.652;SOR=0.859	GT:AD:DP:GQ:PL	0/1:33,20:53:99:421,0,881	9	0	1	0
chr11	101472268	101472268	C	T	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon8:c.G2074A:p.V692I	Glomerulosclerosis, focal segmental, 2	34	1486	2	0	0	2	0.000672495	.	.	.	1294846	Focal_segmental_glomerulosclerosis_2|not_provided	MONDO:MONDO:0011390,MedGen:C1858915,OMIM:603965,Orphanet:656|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.630	0.133474019966	.	.	8.369e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs202219188	1.643e-05	1.642e-05	1.771e-05	1.514e-05	0.0003	1.111e-05	9.34e-06	6.103e-05	2.525e-05	0	2.237e-05	0	0	0	0.0003	1.08e-05	0.0001	1.16e-05	6.57e-06	6.563e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.06	0.48642	T	0.174	0.55759	T	0.998	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	-4.95	0.98428	D	-0.85	0.23156	N	0.206	0.28616	1.080	0.98884	D	0.954	0.98497	D	10	0.3876319	0.54658	T	0.133474	0.81585	D	0.630	0.85769	.	.	0.977492206272	0.97724	0.40804741521401305	0.40720	1.73859626385	0.90843	0.616119027138	0.55180	T	0.719069	0.92046	D	0.255086	0.79075	D	0.192283	0.82699	D	0.436576891285069	0.30303	T	0.948005	0.79945	D	0.24799956	0.47782	0.21639661	0.46266	0.24799956	0.47782	0.21639661	0.46265	-6.552	0.52500	T	0.3716528052755218	0.46709	0.096	0.31253	B	.;.;.;.	.;.;.;.	4.626963	0.73532	26.0	0.99383260284892916	0.61979	0.98700	0.85746	D	AEFI	0.745408	0.68809	D	0.773085310559179	0.84399	8.276599	0.786976267870766	0.88871	9.748783	0.999999999968219	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	6.167000	0.71757	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.299	0.98594	817	0.41665	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	34	chr11	101472268	.	C	T	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.822;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.349;SOR=0.804	GT:AD:DP:GQ:PL	0/1:26,25:51:99:669,0,719	9	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,18:136:7:.:.:7,0,3540:.	3	0	5	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,22:136:46:.:.:46,0,3531:.	0	0	7	3
chr11	113743922	113743922	T	G	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon10:c.A1391C:p.E464A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0182620538494	.	0.000399361	0.0002	0	0	0	0	0	0	0.0012	0.0001423	22	154602	rs551055591	7.114e-05	7.114e-05	4.084e-05	0.0001	0.0011	5.98e-05	5.588e-05	0.0010	0.0009	0	0	0	0	0	0.0002	1.799e-06	4.967e-05	0.0011	5.907e-05	5.905e-05	1.284e-05	0.0001	0.0019	3.074e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.094	0.31383	T	0.201	0.27503	T	0.005	0.12996	B	0.053	0.25678	B	0.025604	0.26059	N	0.436358	0.931452	0.36990	D	1.04	0.26193	L	0.88	0.46028	T	-2.48	0.54059	N	0.193	0.21188	-1.0657	0.10386	T	0.078	0.30982	T	10	0.009890348	0.00222	T	0.018262	0.40264	T	0.021	0.04004	0.333	0.32005	0.231231049324	0.22751	0.4138489454678878	0.41300	0.142835112035	0.16118	0.411956906319	0.26727	T	0.213903	0.57535	T	-0.519707	0.00442	T	-0.564851	0.15924	T	0.0476439480658318	0.05080	T	0.649435	0.26018	T	0.06930211	0.15172	0.05546051	0.09732	0.06930211	0.15172	0.05546051	0.09732	-4.71	0.33525	T	.	.	0.087	0.11414	B	.	.	1.806187	0.22954	15.83	0.96337372048733694	0.29469	0.75748	0.37104	D	AEFBI	0.080652	0.16311	N	-0.548063049172689	0.20544	1.083808	-0.475110114030566	0.22842	1.242682	0.0703056059856569	0.15522	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.96	0.25203	1.405000	0.34243	1.194000	0.24787	0.595000	0.32841	0.893000	0.31264	0.988000	0.31051	0.789000	0.37270	0.0:0.151:0.1424:0.7067	5.784	0.17585	538	0.73119	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2783.43	34	chr11	113743922	.	T	G	2783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=531;ExcessHet=0;FS=6.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.838;SOR=1.104	GT:AD:DP:GQ:PL	0/1:102,112:214:99:2795,0,2418	9	0	1	0
chr11	113989620	113989620	C	T	exonic	HTR3A	.	nonsynonymous SNV	HTR3A:NM_213621:exon8:c.C1390T:p.R464W,HTR3A:NM_000869:exon9:c.C1294T:p.R432W,HTR3A:NM_001161772:exon9:c.C1249T:p.R417W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0419494719016	7.7e-05	.	1.651e-05	0	0	0	0	1.503e-05	0	6.056e-05	1.29e-05	2	154602	rs150192822	1.915e-05	1.984e-05	2.314e-05	1.513e-05	0.0002	1.328e-05	1.144e-05	7.712e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	1.619e-05	3.311e-05	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	4.824e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.081	0.35918	T	0.093	0.42261	T	.	.	.	.	.	.	0.000002	0.62929	D	0.056069	0.999831	0.49637	D	2.205	0.62170	M	2.01	0.21291	T	-3.11	0.63782	D	0.282	0.33469	-1.1086	0.03192	T	0.080	0.31556	T	10	0.2235665	0.39139	T	0.041949	0.60201	D	0.134	0.36365	.	.	0.493295820912	0.48965	0.4859210865191956	0.48512	0.452195566295	0.44952	0.422808945179	0.28223	T	0.716387	0.91949	D	-0.282673	0.10387	T	-0.407148	0.32554	T	0.924217581748962	0.58527	D	0.960654	0.85269	D	0.5104881	0.67708	0.4671894	0.69088	0.5104881	0.67709	0.4671894	0.69088	-8.812	0.67252	D	.	.	0.234	0.52194	B	.;.;.;.;.	.;.;.;.;.	3.862913	0.56034	23.7	0.9990000520358564	0.97199	0.84287	0.43369	D	AEFDBI	0.653417	0.62646	D	0.240776795514531	0.53184	3.48852	0.248784463986829	0.52582	3.431962	3.7911465782476E-4	0.06745	0.626454	0.40138	0	0.59043	0.45803	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.71	2.78	0.31702	2.620000	0.46075	0.661000	0.20504	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.2832:0.5805:0.0:0.1363	6.148	0.19511	934	0.15400	Neurotransmitter-gated ion-channel transmembrane 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	.	.	.	.	.	.	.	.	0.05	899.43	34	chr11	113989620	.	C	T	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=418;ExcessHet=0;FS=2.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.58;SOR=0.844	GT:AD:DP:GQ:PL	0/1:63,38:101:99:911,0,1538	9	0	1	0
chr11	117219154	117219154	C	T	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon11:c.G1334A:p.R445H	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00678914	0.0040	0	0	0.0001	0	1.792e-05	0.0041	0.0288	0.0030207	467	154602	rs139555790	0.0017	0.0017	0.0008	0.0025	0.0266	0.0016	0.0016	0.0257	0.0253	2.991e-05	2.243e-05	0	0.0001	0	0.0014	9.908e-06	0.0016	0.0266	0.0010	0.0010	0.0006	0.0014	0.0290	0.0008	0.0008	0.0251	0.0236	9.62e-05	0	0	0	0	0	0	2.94e-05	0	0.0290	0.262	0.16466	T	0.141	0.34837	T	0.003	0.11197	B	0.004	0.10090	B	0.000505	0.43753	N	0.233534	0.999971	0.19599	N	-0.03	0.05048	N	-1.44	0.80815	T	-0.32	0.12283	N	0.172	0.19995	-0.8579	0.51413	T	0.244	0.61237	T	10	0.00224936	0.00033	T	.	.	.	0.108	0.30607	.	.	0.481393932785	0.47771	0.5249313837551314	0.52417	0.648183044756	0.58173	0.221892893314	0.01422	T	0.019134	0.15298	T	-0.409593	0.02000	T	-0.341531	0.40171	T	0.0340348025916292	0.02643	T	0.812719	0.46458	T	0.060162373	0.12311	0.0399855	0.04217	0.060162373	0.12311	0.0399855	0.04217	-3.23	0.12851	T	.	.	0.066	0.02065	B	.;.	.;.	2.139018	0.27237	17.39	0.9862796910792786	0.43866	0.13493	0.17887	N	AEFBI	0.067795	0.13343	N	-0.916955437733202	0.10445	0.499179	-0.837406223478595	0.13590	0.7058474	0.999583278636023	0.40607	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.2	0.028	0.13474	0.181000	0.16691	-0.353000	0.09730	-0.266000	0.06809	0.680000	0.28438	0.095000	0.22593	0.965000	0.52897	0.0:0.611:0.0:0.389	9.467	0.37982	610	0.67008	Peptidase S8/S53 domain;Peptidase S8/S53 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.011364	0.05	791.43	33	chr11	117219154	.	C	T	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.115;DP=382;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.8;SOR=0.811	GT:AD:DP:GQ:PL	0/1:38,34:72:99:803,0,900	9	0	1	0
chr11	119182266	119182266	G	T	exonic	NLRX1	.	nonsynonymous SNV	NLRX1:NM_001282143:exon9:c.G2527T:p.A843S,NLRX1:NM_001282144:exon9:c.G2527T:p.A843S,NLRX1:NM_001282358:exon9:c.G2527T:p.A843S,NLRX1:NM_024618:exon9:c.G2527T:p.A843S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0098	0.00678914	0.0025	0.0277	0.0009	0	0.0003	0.0001	0	0.0001	0.0023738	367	154602	rs35500631	0.0009	0.0009	0.0011	0.0008	0.0301	0.0009	0.0009	0.0286	0.0279	0.0301	0.0012	0	0	0.0006	0.0012	0.0001	0.0018	6.957e-05	0.0086	0.0086	0.0089	0.0084	0.0303	0.0082	0.0081	0.0289	0.0284	0.0303	0	0.0018	0	0	0.0004	0.0034	0.0002	0.0038	0.0002	0.427	0.16793	T	0.065	0.46632	T	0.982	0.67487	D	0.612	0.63417	P	0.016834	0.27876	N	0.317611	0.999414	0.46970	D	1.79	0.46772	L	0.91	0.44856	T	0.19	0.06739	N	0.426	0.46835	-1.0572	0.12465	T	0.039	0.16978	T	10	0.011113942	0.00244	T	.	.	.	0.193	0.47281	.	.	0.663037096684	0.66020	0.4263396455440389	0.42550	0.517907946749	0.49658	0.574944376945	0.49375	T	0.072854	0.34555	T	-0.455941	0.01041	T	-0.404707	0.32837	T	0.0399175144686754	0.03674	T	0.882712	0.68253	D	0.24176867	0.47096	0.10004112	0.23906	0.24176867	0.47096	0.10004112	0.23905	-5.498	0.41849	T	.	.	0.395	0.59268	A	.;.;.;.;.	.;.;.;.;.	4.492239	0.70188	25.5	0.99678290252259971	0.79043	0.99173	0.92306	D	AEFDBI	0.914385	0.87767	D	0.298411110064751	0.56070	3.771092	0.379074603803132	0.60277	4.21344	0.999999999782423	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	4.52	4.52	0.54797	9.208000	0.94199	11.700000	0.94485	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	17.418	0.87399	277	0.89083	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	655.43	44	chr11	119182266	.	G	T	655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.477;SOR=0.765	GT:AD:DP:GQ:PL	0/1:60,27:87:99:667,0,1546	9	0	1	0
chr11	119187454	119187454	C	A	exonic	PDZD3	.	nonsynonymous SNV	PDZD3:NM_001168468:exon5:c.C515A:p.T172N,PDZD3:NM_024791:exon5:c.C515A:p.T172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0110	0.00778754	0.0027	0.0291	0.0009	0	0.0003	0.0002	0	0.0001	0.0025679	397	154602	rs35242532	0.0010	0.0010	0.0011	0.0009	0.0321	0.0010	0.0009	0.0305	0.0299	0.0321	0.0012	0	0	0.0006	0.0019	0.0002	0.0020	6.958e-05	0.0093	0.0093	0.0094	0.0091	0.0325	0.0089	0.0087	0.0310	0.0304	0.0325	0	0.0018	0	0	0.0004	0.0034	0.0002	0.0052	0.0002	0.084	0.33585	T	0.014	0.63918	D	0.993	0.68779	D	0.904	0.70309	P	0.000812	0.41658	D	0.202828	0.878746	0.35707	D	0.77	0.19370	N	1.69	0.52187	T	-1.48	0.41618	N	0.38	0.56576	-0.8999	0.48003	T	0.054	0.22846	T	10	0.006141156	0.00138	T	.	.	.	0.083	0.24192	.	.	0.784388662207	0.78239	0.3888417659390704	0.38799	0.430905266619	0.43317	0.606872737408	0.53875	T	0.032145	0.22356	T	-0.520547	0.00437	T	-0.496131	0.22748	T	0.012155391151676	0.00194	T	0.715328	0.33695	T	0.13457203	0.31261	0.14084624	0.33561	0.13457203	0.31261	0.14084624	0.33560	-5.309	0.42499	T	.	.	0.173	0.39356	B	.;.;.;.	.;.;.;.	4.187241	0.63085	24.5	0.98979685390478178	0.49700	0.94430	0.61140	D	AEFDBI	0.614535	0.60182	D	0.356730001602604	0.59095	4.086313	0.36106927302626	0.59178	4.09345	0.357511182185412	0.19745	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	2.759000	0.47253	5.918000	0.51122	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.980000	0.58198	0.0:0.908:0.0:0.092	10.182	0.42151	312	0.87382	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1326.43	35	chr11	119187454	.	C	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=432;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.492;SOR=0.892	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1338,0,1322	9	0	1	0
chr11	124023058	124023058	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C46T:p.P16S	.	424	1074	23	1	0	25	0.0115048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0016	0.00359425	0.0035	0	0.0012	0	0	0.0031	0.0055	0.0121	0.0030207	467	154602	rs141446565	0.0024	0.0024	0.0021	0.0028	0.0106	0.0024	0.0024	0.0101	0.0098	0.0003	0.0013	0.0277	0	0	0.0066	0.0014	0.0037	0.0106	0.0017	0.0017	0.0014	0.0020	0.0108	0.0015	0.0014	0.0084	0.0076	0.0003	0	0.0010	0.0230	0	0	0.0034	0.0013	0.0019	0.0108	0.37	0.11550	T	0.715	0.05434	T	0.078	0.24389	B	0.164	0.34953	B	0.004593	0.33588	N	0.136740	0.746328	0.29683	N	-0.165	0.04321	N	7.46	0.00389	T	-1.2	0.30555	N	0.076	0.05037	-1.0218	0.23129	T	0.000	0.00152	T	10	0.0073650777	0.00167	T	.	.	.	0.062	0.17934	.	.	0.143124449307	0.13826	0.16278654458662975	0.16198	0.425027138028	0.42916	0.216108947992	0.01097	T	0.003	0.02708	T	-0.59376	0.00159	T	-0.616277	0.11480	T	0.0144571563771254	0.00292	T	0.227177	0.03016	T	0.04062003	0.05833	0.050784115	0.08042	0.04062003	0.05833	0.050784115	0.08042	-2.928	0.09426	T	.	.	0.144	0.31733	B	.	.	1.536149	0.19703	14.40	0.50710633347697687	0.04432	0.16363	0.19354	N	AEFI	0.081623	0.16518	N	-1.16447645677521	0.05545	0.2530935	-1.11774098304783	0.07361	0.3577643	1.20610408998942E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	2.41	0.28644	-0.247000	0.08884	-5.208000	0.01806	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.5946:0.2816:0.1238	5.317	0.15167	816	0.41767	.	.	.	.	.	.	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	0.004343	0.005435	0.002717	0.000000	0.000000	0.000000	0.006369	0.019685	0.05	3012.43	54	chr11	124023058	.	C	T	3012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.325;DP=701;ExcessHet=0;FS=1.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.88;MQRankSum=1.33;QD=10.5;ReadPosRankSum=0.986;SOR=0.583	GT:AD:DP:GQ:PL	0/1:154,133:287:99:3024,0,3860	9	0	1	0
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.007576	0.05	2327.43	33	chr11	124440622	.	C	T	2327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.134;DP=490;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.04;SOR=0.537	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2339,0,2076	9	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.05	779.43	34	chr12	553246	.	G	C	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.596;DP=383;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.054;SOR=0.941	GT:AD:DP:GQ:PL	0/1:31,33:64:99:791,0,755	9	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.05	1066.43	35	chr12	553529	.	C	T	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-1.803;SOR=0.573	GT:AD:DP:GQ:PL	0/1:21,43:64:99:1078,0,382	9	0	1	0
chr12	558560	558560	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon18:c.G2660C:p.G887A	.	414	1085	23	0	0	23	0.0104879	.	.	.	3185142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.00940082659047	0.0048	0.00319489	0.0041	0.0008	0.0033	0	0.0005	0.0054	0.0022	0.0052	0.0010737	166	154602	rs61730392	0.0049	0.0049	0.0048	0.0051	0.0180	0.0048	0.0048	0.0152	0.0142	0.0006	0.0026	0.0090	0	0.0005	0.0180	0.0053	0.0051	0.0060	0.0039	0.0039	0.0040	0.0038	0.0064	0.0036	0.0035	0.0056	0.0055	0.0009	0	0.0039	0.0078	0.0004	0.0003	0.0340	0.0061	0.0038	0.0064	0.173	0.22573	T	0.051	0.47828	T	0.091	0.25247	B	0.119	0.32162	B	0.047531	0.23336	N	0.450561	0.997748	0.22526	N	2.085	0.57729	M	1.21	0.37230	T	-3.07	0.63207	D	0.339	0.38027	-1.0250	0.22083	T	0.054	0.22959	T	10	0.007891625	0.00179	T	0.009401	0.24646	T	0.116	0.32463	.	.	0.382592752248	0.37866	0.5573434413093522	0.55661	0.285283984109	0.30940	0.503007769585	0.39247	T	0.025108	0.18839	T	-0.405663	0.02124	T	-0.345095	0.39767	T	0.0327530080428687	0.02430	T	0.80202	0.44827	T	0.14915045	0.34016	0.19425906	0.43039	0.14915045	0.34016	0.19425906	0.43038	-7.163	0.55215	T	.	.	0.107	0.20235	B	.	.	3.297854	0.45254	22.1	0.91282640441553953	0.20542	0.74996	0.36702	D	AEFGBI	0.154587	0.27964	N	-0.184703900682098	0.33770	1.919788	-0.127708451940447	0.34277	1.969932	0.999954154224236	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	2.341000	0.43640	4.424000	0.43326	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.433000	0.27516	0.0:0.1514:0.8486:0.0	14.012	0.64021	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.020202	0.016304	0.017544	0.000000	0.008621	0.009146	0.007576	0.05	514.43	37	chr12	558560	.	G	C	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=395;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=-0.111;SOR=0.945	GT:AD:DP:GQ:PL	0/1:46,24:70:99:526,0,1081	9	0	1	0
chr12	865116	865116	C	T	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.C2146T:p.R716C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	641404	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	.	.	0.000399361	0.0002	0	0	0	0	0	0.0147	0	3.23e-05	5	154602	rs140331977	8.574e-05	8.415e-05	9.08e-05	8.05e-05	9.372e-05	7.285e-05	6.807e-05	7.826e-05	7.295e-05	6.404e-05	8.711e-05	0	0	9.035e-05	0	9.372e-05	3.501e-05	9.16e-05	8.676e-05	8.547e-05	9.131e-05	8.199e-05	0.0002	5.032e-05	4.02e-05	4.821e-05	3.375e-05	4.9e-05	0	6.663e-05	0	0.0002	0.0002	0	0.0001	0	0	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	0.994898	0.81001	D	.	.	.	.	.	.	.	.	.	0.688	0.69387	-1.1343	0.01587	T	0.073	0.29547	T	6	0.3604396	0.52688	T	.	.	.	.	.	.	.	0.280695755116	0.27685	0.025479195506081798	0.02498	.	.	.	.	.	.	.	.	-0.0105516	0.50189	T	0.00211279	0.70472	D	0.956602275371552	0.64799	D	0.725127	0.33902	T	.	.	.	.	.	.	.	.	-5.112	0.38033	T	.	.	0.441	0.61760	A	.	.	3.349895	0.46200	22.3	0.99937431621795614	0.99661	0.98602	0.84577	D	AEFGBI	0.795945	0.72322	D	0.321460762157473	0.57250	3.891796	0.3951037945558	0.61261	4.323917	0.999936252982687	0.46732	0.160855	0.03482	2	0.546412	0.12157	0	0.408882	0.06424	0	0.491896	0.07777	0	.	.	5.67	4.76	0.60189	5.800000	0.68767	2.723000	0.34327	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8712:0.1288:0.0	16.842	0.85837	603	0.67726	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1030.43	36	chr12	865116	.	C	T	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/1:64,45:109:99:1042,0,1606	9	0	1	0
chr12	2868597	2868597	G	T	exonic	FOXM1	.	nonsynonymous SNV	FOXM1:NM_001243088:exon4:c.C809A:p.P270H,FOXM1:NM_001243089:exon4:c.C809A:p.P270H,FOXM1:NM_021953:exon4:c.C812A:p.P271H,FOXM1:NM_202002:exon4:c.C812A:p.P271H,FOXM1:NM_202003:exon4:c.C812A:p.P271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.420038591669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.475	0.92503	M	-4.2	0.96934	D	-8.23	0.96869	D	0.949	0.95725	1.097	0.99525	D	0.959	0.98687	D	10	0.9567469	0.95043	D	0.420039	0.93774	D	0.963	0.99463	0.806	0.92372	0.970282096251	0.96996	0.799632894517484	0.79917	0.854002154576	0.68679	0.820790827274	0.85149	D	0.39252	0.94278	T	0.585229	0.97323	D	0.602864	0.97280	D	0.999580919742584	0.98022	D	0.911709	0.71997	D	0.9675377	0.98027	0.9459848	0.98152	0.9675377	0.98027	0.9459848	0.98152	-11.957	0.84871	D	.	.	0.872	0.83519	P	.;.;.;.	.;.;.;.	5.681345	0.92999	33	0.99730219253057817	0.82690	0.99299	0.94153	D	AEFGBI	0.937343	0.93498	D	1.07099722339456	0.97559	16.33952	0.997293849673773	0.98574	18.67595	0.999999999963996	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	9.602000	0.97623	9.818000	0.81786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.740	0.91733	912	0.21483	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	832.43	33	chr12	2868597	.	G	T	832.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=400;ExcessHet=0;FS=4.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.399;SOR=1.209	GT:AD:DP:GQ:PL	0/1:54,34:88:99:844,0,1338	9	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2222	1238.83	54	chr12	4591261	.	G	C	1238.83	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.278;DP=748;ExcessHet=4.5998;FS=280.048;InbreedingCoeff=-0.4825;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.18;SOR=10.841	GT:AD:DP:GQ:PL	0/1:35,13:52:99:122,0,1144	5	0	4	1
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	177.49	40	chr12	4591262	.	T	C	177.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.537;DP=578;ExcessHet=0.7463;FS=186.015;InbreedingCoeff=-0.1777;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.63;SOR=8.155	GT:AD:DP:GQ:PL	0/1:44,13:57:99:105,0,1184	7	0	3	0
chr12	6935550	6935550	G	C	exonic	ATN1	.	nonsynonymous SNV	ATN1:NM_001007026:exon5:c.G283C:p.E95Q,ATN1:NM_001940:exon5:c.G283C:p.E95Q	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0114058659689	.	.	0.0003	9.623e-05	8.663e-05	0	0	9.026e-05	0.0011	0.0014	0.000207	32	154602	rs782695665	0.0001	0.0001	5.46e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0005	1.355e-05	0.0001	0.0018	7.884e-05	7.874e-05	2.571e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.002	0.72154	D	0.034	0.52727	D	0.958	0.54977	D	0.66	0.52803	P	0.006546	0.31955	U	0.000000	0.999914	0.51042	D	1.525	0.38595	L	0.96	0.42888	T	-1.57	0.37955	N	0.319	0.35938	-1.0205	0.23551	T	0.134	0.44720	T	10	0.04941684	0.04528	T	0.011406	0.29007	T	0.116	0.32463	0.314	0.28935	0.414205011594	0.41037	0.13961209695039614	0.13884	0.419750306863	0.42519	0.742917180061	0.73402	T	0.406644	0.76249	T	-0.43951	0.01302	T	-0.42873	0.30079	T	0.186328278953814	0.19626	T	0.767423	0.39577	T	0.3278539	0.55295	0.20029895	0.43953	0.29329574	0.52298	0.2567121	0.51375	-4.018	0.24072	T	.	.	0.500	0.65542	A	.;.	.;.	4.548344	0.71561	25.7	0.99747845460557016	0.84002	0.97739	0.76783	D	AEFDBCIJ	0.807797	0.73175	D	0.292508160531482	0.55769	3.740948	0.272904537313441	0.53962	3.562882	0.999999999997571	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.95	3.95	0.44952	7.337000	0.78502	11.735000	0.95074	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:1.0:0.0	14.730	0.68987	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1962.43	38	chr12	6935550	.	G	C	1962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-3.155;SOR=0.711	GT:AD:DP:GQ:PL	0/1:66,75:141:99:1974,0,1599	9	0	1	0
chr12	7091773	7091773	C	T	exonic	C1R	.	stopgain	C1R:NM_001354346:exon1:c.G44A:p.W15X	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	3203274	C1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0120	0	0	0.0026	0	0	0.0055	0.0269	0.0017529	271	154602	rs367785162	0.0032	0.0029	0.0015	0.0046	0.0277	0.0030	0.0030	0.0266	0.0261	0.0003	8.641e-05	0	3.115e-05	0	0.0005	9.464e-06	0.0016	0.0277	0.0011	0.0011	0.0005	0.0016	0.0335	0.0009	0.0009	0.0293	0.0277	0	0	6.538e-05	0	0	0	0	0	0.0005	0.0335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.687	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.788799	0.00009	T	-0.884882	0.00615	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.729985	0.01253	0.065	0.61694685726672127	0.06773	0.00797	0.03252	N	AEFDBCIJ	0.174399	0.30153	N	-1.63503674367357	0.01099	0.04773559	-1.8518245417621	0.00607	0.02697177	0.999999990106296	0.74766	0.403107	0.06075	0	0.541556	0.11502	0	0.467745	0.07146	0	0.562822	0.20929	0	.	.	3.92	-7.56	0.01180	-1.186000	0.03179	-6.457000	0.01393	-2.934000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1236:0.1908:0.0:0.6857	8.454	0.32052	624	0.65661	.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	748.43	40	chr12	7091773	.	C	T	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.61;DP=384;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.078;SOR=0.446	GT:AD:DP:GQ:PL	0/1:42,28:70:99:760,0,1258	9	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21125.9	234	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	21125.9	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.63;DP=2008;ExcessHet=0;FS=3.474;InbreedingCoeff=0.598;MLEAC=10;MLEAF=0.833;MQ=47.36;MQRankSum=-1.624;QD=24.8;ReadPosRankSum=-1.592;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,200:203:99:.:.:5871,560,0:.	2	4	0	4
chr12	11393697	11393816	GTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.262_381del:p.88_127del,PRB2:NM_006248:exon3:c.262_381del:p.K88_N127del	.	430	1075	15	0	2	17	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	.	.	.	.	0.0002	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0.0004	5.436e-05	0.0003	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0.0016	0.0003	0	0	0	0.0072	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	618.39	343	chr12	11393696	.	GGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	G	618.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=3144;ExcessHet=0;FS=9.004;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.65;MQRankSum=-2.82;QD=2.05;ReadPosRankSum=-6.4;SOR=0.547	GT:AD:DP:GQ:PL	0/1:181,121:302:99:630,0,7047	9	0	1	0
chr12	11393752	11393752	C	0	exonic	PRB1;PRB2	.	.	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	713.41	400	chr12	11393752	.	C	*	713.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.698;DP=3680;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=55.98;MQRankSum=-13.38;QD=1.14;ReadPosRankSum=3.01;SOR=0.625	GT:AD:DP:GQ:PL	0/1:181,121:302:99:630,0,7047	3	0	1	6
chr12	12330907	12330907	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A416G:p.D139G,MANSC1:NM_001363613:exon5:c.A314G:p.D105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0146792314068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0039	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	3.975e-05	5.116e-05	0	0.0002	0.0004	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.15251	T	0.123	0.41573	T	0.002	0.09854	B	0.001	0.04355	B	0.663613	0.10405	N	0.800555	1	0.08975	N	1.245	0.31408	L	2.25	0.22881	T	-0.47	0.15178	N	0.031	0.01911	-0.9937	0.31643	T	0.030	0.12935	T	10	0.035876542	0.01857	T	0.014679	0.34954	T	0.016	0.02506	0.15	0.05339	0.0138822411134	0.00435	0.33148484278697865	0.33061	0.118754727936	0.13371	0.244366616011	0.03197	T	0.004238	0.10910	T	-0.346822	0.04929	T	-0.735962	0.04062	T	0.0301569309085608	0.02013	T	.	.	.	0.04236311	0.06411	0.026856218	0.00800	0.04236311	0.06410	0.026856218	0.00800	-3.929	0.22738	T	.	.	0.073	0.10545	B	.;.;.	.;.;.	0.071517	0.04796	1.408	0.89113004901921966	0.18522	0.01952	0.05932	N	AEFBI	0.048170	0.08193	N	-1.08359303296155	0.06945	0.3211853	-1.10572455078057	0.07590	0.3697953	0.779261376700607	0.23811	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.267	0.14876	-0.186000	0.09666	-1.883000	0.04557	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.220000	0.22462	0.0:0.2766:0.2406:0.4828	2.929	0.05440	612	0.66786	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	66.76	51	chr12	12330907	.	T	C	66.76	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.655;DP=835;ExcessHet=0.7463;FS=103.856;InbreedingCoeff=-0.1671;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=0.767;SOR=9.744	GT:AD:DP:GQ:PL	0/1:75,27:102:40:40,0,1370	7	0	3	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,15:41:99:.:.:282,0,632:.	3	0	7	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,15:44:99:.:.:274,0,672:.	5	0	5	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,344:763:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13294,0,16446:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,344:763:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13294,0,16446:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,344:763:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13294,0,16446:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,344:763:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13294,0,16446:40486484	1	0	5	4
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:678,34:712:99:.:.:3512,0,28050:.	2	0	8	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:664,2:668:99:.:.:2810,0,27143:.	4	0	6	0
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	275.37	768	chr12	40489087	.	C	G	275.37	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.282;DP=4284;ExcessHet=0;FS=7.782;InbreedingCoeff=0.5024;MLEAC=2;MLEAF=0.1;MQ=34.4;MQRankSum=-1.383;QD=34.42;ReadPosRankSum=-0.842;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:40489054_G_T:90,6,0:40489054	8	1	1	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	187.15	768	chr12	40489098	.	T	C	187.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.15;DP=4283;ExcessHet=0.2348;FS=13.222;InbreedingCoeff=-0.0943;MLEAC=2;MLEAF=0.1;MQ=36;MQRankSum=0.967;QD=26.74;ReadPosRankSum=0.967;SOR=3.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:18:0|1:40489054_G_T:81,0,18:40489054	8	0	2	0
chr12	42317414	42317414	T	C	exonic	ZCRB1	.	nonsynonymous SNV	ZCRB1:NM_033114:exon5:c.A259G:p.I87V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0134792026825	.	.	1.657e-05	0	0	0	0	3.015e-05	0	0	1.29e-05	2	154602	rs750402117	7.535e-06	7.525e-06	5.452e-06	9.638e-06	2.33e-05	4.04e-06	2.96e-06	3.87e-06	2.76e-06	0	0	0	0	0	0	8.098e-06	0	2.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.431	0.20615	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.042041	1	0.81001	D	-0.1	0.04694	N	-0.8	0.73845	T	0.39	0.03639	N	0.331	0.38746	-0.7912	0.55659	T	0.239	0.60714	T	10	0.16375917	0.30655	T	0.013479	0.32916	T	0.179	0.44899	.	.	0.377976839388	0.37411	0.10513332385702548	0.10443	0.250597250229	0.27630	0.641970515251	0.58845	T	0.00506	0.04495	T	-0.0618927	0.42612	T	-0.226051	0.52153	T	0.541683077812195	0.34166	D	0.79772	0.46991	T	0.1275286	0.29840	0.112725854	0.27200	0.1275286	0.29839	0.112725854	0.27199	-4.291	0.28051	T	.	.	0.057	0.00647	B	.;.;.	.;.;.	2.609977	0.33897	19.47	0.99403825614917296	0.62934	0.97102	0.72701	D	AEFBI	0.635514	0.61500	D	-0.116333544647286	0.36682	2.123561	0.106892156559484	0.44900	2.762931	0.999920444177322	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	4.626000	0.60968	6.141000	0.54053	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.823	0.78449	756	0.51065	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	871.43	34	chr12	42317414	.	T	C	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.621;DP=368;ExcessHet=0;FS=5.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.581;SOR=0.887	GT:AD:DP:GQ:PL	0/1:24,36:60:99:883,0,504	9	0	1	0
chr12	43799462	43799462	G	A	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_001242397:exon5:c.C419T:p.S140L,TWF1:NM_002822:exon5:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	2686030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.0654333102545	.	.	7.122e-05	0.0001	0	0	0	1.939e-05	0	0.0004	4.53e-05	7	154602	rs751907907	2.127e-05	2.121e-05	1.092e-05	3.172e-05	0.0006	1.524e-05	1.328e-05	0.0002	8.407e-05	0	0	0	0	0	0.0006	1.081e-05	3.326e-05	0.0002	3.287e-05	3.281e-05	1.286e-05	5.379e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	0	0	0	0	0	2.944e-05	0	0.0006	0.026	0.52492	D	0.094	0.39645	T	0.031	0.25085	B	0.053	0.31755	B	0.000001	0.84330	D	0.057363	0.999999	0.58761	D	2.545	0.74286	M	-1.74	0.83413	D	-4.11	0.74980	D	0.53	0.58202	-0.1387	0.79197	T	0.525	0.82297	D	10	0.30674157	0.48182	T	0.065433	0.69577	D	0.158	0.41098	0.43	0.47843	0.952252590806	0.95175	0.3961909125880007	0.39534	0.367955838784	0.38357	0.612158894539	0.54622	T	0.318399	0.68978	T	-0.0820839	0.39377	T	-0.0762492	0.65177	T	0.433174647102598	0.30178	T	0.873613	0.58827	D	0.363702	0.58116	0.3370962	0.59504	0.363702	0.58116	0.3370962	0.59503	-7.786	0.66224	D	.	.	0.086	0.30291	B	.;.;.;.	.;.;.;.	4.677297	0.74812	26.2	0.99777226173188882	0.86433	0.99414	0.95724	D	AEFBI	0.802599	0.72797	D	0.305134675440952	0.56411	3.805848	0.465341044755817	0.65707	4.858049	0.999999994653249	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.94	5.94	0.96165	7.562000	0.81274	9.958000	0.82775	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1351:0.8648:0.0	15.814	0.78361	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	.	.	.	.	.	.	.	.	0.05	335.43	33	chr12	43799462	.	G	A	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.357;SOR=0.755	GT:AD:DP:GQ:PL	0/1:28,15:43:99:347,0,759	9	0	1	0
chr12	47984115	47984115	G	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon28:c.C1706T:p.T569I,COL2A1:NM_001844:exon29:c.C1913T:p.T638I	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	3	1518	1	0	0	1	0.000329272	.	.	.	254545	Type_II_Collagenopathies|Stickler_syndrome_type_1|not_specified|Multiple_epiphyseal_dysplasia,_Beighton_type|Spondyloepimetaphyseal_dysplasia,_Strudwick_type|Spondyloepiphyseal_dysplasia,_Stanescu_type|Avascular_necrosis_of_femoral_head,_primary,_1|Achondrogenesis_type_II|Spondyloperipheral_dysplasia|Platyspondylic_dysplasia,_Torrance_type|Spondylometaphyseal_dysplasia_-_Sutcliffe_type|Stickler_syndrome,_type_I,_nonsyndromic_ocular|Legg-Calve-Perthes_disease|Kniest_dysplasia|Spondyloepiphyseal_dysplasia_congenita|Namaqualand_hip_dysplasia|Spondyloepiphyseal_dysplasia_with_metatarsal_shortening|Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia|Connective_tissue_disorder|not_provided	MedGen:CN043672|MONDO:MONDO:0007160,MedGen:C2020284,OMIM:108300,Orphanet:828,Orphanet:90653|MedGen:CN169374|MONDO:MONDO:0007562,MedGen:C1851536,OMIM:132450,Orphanet:166011|MONDO:MONDO:0008476,MedGen:C0700635,OMIM:184250,Orphanet:93346|MONDO:MONDO:0014701,MedGen:C4225273,OMIM:616583,Orphanet:459051|MONDO:MONDO:0054550,MedGen:C4551562,OMIM:608805,Orphanet:86820|MONDO:MONDO:0008702,MedGen:C0220685,OMIM:200610,Orphanet:932,Orphanet:93296|MONDO:MONDO:0010078,MedGen:C0796173,OMIM:271700,Orphanet:1856|MONDO:MONDO:0007895,MedGen:C1835437,OMIM:151210,Orphanet:85166|MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315|MONDO:MONDO:0012287,MedGen:C1836080,OMIM:609508|Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380|MONDO:MONDO:0007987,MedGen:C0265279,OMIM:156550,Orphanet:485|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900,Orphanet:94068|MONDO:MONDO:0011496,MedGen:C0432214,OMIM:604864,Orphanet:93279|MONDO:MONDO:0012206,MedGen:C1836683,OMIM:609162,Orphanet:137678|MONDO:MONDO:0031001,MedGen:C1852989,OMIM:619248|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.408	.	7.7e-05	0.00539137	0.0026	0.0004	9.544e-05	0.0307	0	3.316e-05	0.0013	0.0012	0.0021863	338	154602	rs41263847	0.0007	0.0007	0.0007	0.0007	0.0195	0.0006	0.0006	0.0184	0.0180	0.0004	6.716e-05	0	0.0195	0	0.0005	1.529e-05	0.0013	0.0011	0.0010	0.0011	0.0009	0.0012	0.0242	0.0009	0.0009	0.0208	0.0195	0.0004	0	0.0002	0	0.0242	0	0	2.941e-05	0.0014	0.0023	0.24	0.23631	T	0.218	0.26714	T	0.243	0.33761	B	0.033	0.28123	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.295	0.32453	L	-3.09	0.92613	D	-0.82	0.28290	N	0.491	0.52475	-0.2449	0.76496	T	0.349	0.71313	T	10	0.018857718	0.00414	T	.	.	.	0.408	0.72022	.	.	0.882536754685	0.88138	0.40028117147325804	0.39943	1.35263835485	0.84112	0.753973186016	0.75033	T	0.315063	0.68670	T	-0.134467	0.30774	T	0.0570689	0.74050	D	0.0121855560590081	0.00195	T	0.835416	0.50550	T	0.1975994	0.41630	0.14694612	0.34794	0.18995573	0.40559	0.1451533	0.34436	-7.727	0.59195	D	0.0810402751614333	0.04148	0.201	0.42535	B	.;.	.;.	3.945714	0.57774	23.9	0.99523705076551194	0.69407	0.93155	0.57469	D	AEFDBI	0.640751	0.61833	D	-0.0991542594636143	0.37428	2.177479	0.103145118365827	0.44709	2.74744	0.999993785552668	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	5.18	0.71140	1.997000	0.40406	11.852000	0.98107	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.622	0.87987	620	0.66037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1520.43	34	chr12	47984115	.	G	A	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.077;DP=445;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.005;SOR=0.535	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1532,0,1332	9	0	1	0
chr12	49965013	49965013	G	A	exonic	AQP5	.	nonsynonymous SNV	AQP5:NM_001651:exon4:c.G634A:p.V212M	Palmoplantar keratoderma, Bothnian type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2098506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.362	0.135548439933	0.0002	0.000798722	0.0006	0.0002	0	0.0072	0.0002	0.0001	0	0	0.0005498	85	154602	rs75180659	0.0004	0.0004	0.0004	0.0004	0.0091	0.0004	0.0004	0.0083	0.0080	5.974e-05	4.474e-05	0	0.0091	0.0002	0	0.0001	0.0009	2.32e-05	0.0003	0.0003	0.0003	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	9.628e-05	0	6.533e-05	0	0.0064	0	0	0.0002	0	0	0.125	0.27310	T	0.084	0.41239	T	0.537	0.37852	P	0.109	0.31370	B	0.806705	0.09282	N	0.898910	0.99566	0.23235	N	1.685	0.43254	L	-2.49	0.89145	D	-1.19	0.30346	N	0.079	0.05414	-0.4325	0.70984	T	0.462	0.79162	T	10	0.015497923	0.00325	T	0.135548	0.81801	D	0.362	0.68230	.	.	0.786577214588	0.78460	0.3483922992044776	0.34753	0.379232026127	0.39320	0.429508984089	0.29140	T	0.575112	0.85995	D	-0.416431	0.01803	T	-0.365824	0.37376	T	0.0125065169004493	0.00207	T	0.882912	0.60466	D	0.18304525	0.39553	0.075474985	0.16620	0.1250962	0.29333	0.08839492	0.20609	-3.344	0.14311	T	0.2169034207409562	0.29184	0.170	0.37388	B	.	.	2.233441	0.28512	17.82	0.98056358108237052	0.37913	0.37535	0.25784	N	AEFDGBI	0.218943	0.34389	N	-0.424901376724311	0.24600	1.329377	-0.451105479170905	0.23517	1.282907	0.999893232497823	0.45129	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.2	-0.154	0.12744	0.015000	0.13250	0.207000	0.15917	-0.148000	0.12190	0.007000	0.17678	0.000000	0.08366	0.945000	0.48827	0.1453:0.2339:0.5011:0.1197	3.927	0.08767	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1182.43	34	chr12	49965013	.	G	A	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.99;SOR=0.691	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1194,0,844	9	0	1	0
chr12	52811817	52811817	C	T	exonic	KRT4	.	nonsynonymous SNV	KRT4:NM_002272:exon2:c.G623A:p.R208H	White sponge nevus 1, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	332069	White_sponge_nevus_1|KRT4-related_disorder	MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.368	0.0645811225036	0.0028	0.00159744	0.0042	0.0003	0.0003	0	0.0053	0.0056	0.0033	0.0053	0.0038421	594	154602	rs201795280	0.0032	0.0032	0.0031	0.0033	0.0066	0.0031	0.0031	0.0061	0.0059	0.0003	0.0003	0.0079	7.557e-05	0.0073	0.0030	0.0030	0.0025	0.0066	0.0023	0.0023	0.0024	0.0023	0.0062	0.0021	0.0020	0.0045	0.0039	0.0006	0	0.0003	0.0072	0	0.0040	0.0034	0.0033	0.0014	0.0062	0.028	0.46129	D	0.059	0.45961	T	.	.	.	.	.	.	0.000179	0.48594	D	0.000000	0.93052	0.36960	D	.	.	.	-2.69	0.90451	D	-3.9	0.72932	D	0.36	0.40164	0.549	0.91226	D	0.726	0.90622	D	10	0.011785328	0.00256	T	0.064581	0.69321	D	0.368	0.68757	.	.	0.862895951424	0.86156	0.2984767610901514	0.29760	0.493726229399	0.47964	0.311705082655	0.12165	T	.	.	.	-0.302529	0.08424	T	-0.204726	0.54198	T	0.0476230486575688	0.05076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07130	B	.	.	4.071109	0.60485	24.2	0.99773593835873065	0.86088	0.15545	0.18964	N	AEFBI	0.187824	0.31511	N	0.0122974394415933	0.42413	2.555072	0.0205304543473444	0.40669	2.430855	0.996659378728061	0.34900	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.54	4.54	0.55220	1.165000	0.31432	.	.	0.599000	0.40250	0.004000	0.16614	1.000000	0.68203	0.977000	0.56843	0.0:0.9099:0.0:0.0901	12.385	0.54657	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.002717	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	2081.43	38	chr12	52811817	.	C	T	2081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=480;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.724;SOR=0.882	GT:AD:DP:GQ:PL	0/1:76,88:164:99:2093,0,1727	9	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	254.49	72	chr12	56716773	.	G	C	254.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.619;DP=670;ExcessHet=0.7463;FS=223.803;InbreedingCoeff=-0.1778;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.538;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,10:53:99:.:.:113,0,1464:.	7	0	3	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	124.42	79	chr12	56716774	.	T	C	124.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.33;DP=666;ExcessHet=0.2348;FS=149.279;InbreedingCoeff=-0.1227;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,10:53:90:.:.:90,0,1498:.	8	0	2	0
chr12	56720329	56720329	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G1201A:p.V401I,NACA:NM_001365896:exon3:c.G1201A:p.V401I	.	431	1042	47	2	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0080	0.0071885	0.0085	0.0021	0.0026	0	0.0023	0.0087	0.0078	0.0227	0.0086157	1332	154602	rs149200196	0.0099	0.0100	0.0096	0.0103	0.0222	0.0098	0.0097	0.0214	0.0210	0.0022	0.0035	0.0047	7.557e-05	0.0022	0.0125	0.0105	0.0072	0.0222	0.0064	0.0064	0.0068	0.0061	0.0224	0.0061	0.0060	0.0190	0.0177	0.0019	0	0.0054	0.0037	0	0.0036	0.0170	0.0095	0.0047	0.0224	0.0	0.91255	D	0.284	0.25514	T	0.027	0.19556	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.69	0.51714	T	-0.28	0.14588	N	0.067	0.04913	-1.0433	0.16324	T	0.043	0.18659	T	9	0.0027790666	0.00044	T	.	.	.	0.017	0.02790	.	.	0.0846915920261	0.08053	0.026496213943266036	0.02599	0.0300485160316	0.03099	0.2774695158	0.07142	T	0.086986	0.37845	T	-0.631707	0.00093	T	-0.662594	0.08092	T	0.00737030575753901	0.00085	T	0.471053	0.13966	T	0.08163117	0.18766	0.08464307	0.19487	0.08163117	0.18765	0.08464307	0.19486	-4.015	0.24027	T	.	.	0.107	0.20078	B	.;.	.;.	-0.056359	0.03909	0.861	0.97167113773209157	0.32660	0.07237	0.13261	N	AEFBCI	0.030556	0.03100	N	-1.15211174013493	0.05746	0.2627286	-1.18914133857327	0.06090	0.2921035	0.999421206361269	0.39630	0.729952	0.87565	0	0.587265	0.34161	0	0.759307	0.98198	0	0.692231	0.68500	0	.	.	3.49	-0.785	0.10397	-0.252000	0.08825	-2.655000	0.03502	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:0.5255:0.0:0.4745	6.608	0.21930	45	0.97767	.;.	.	.	.	.	.	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	0.011078	0.005051	0.008152	0.008772	0.050000	0.017241	0.012195	0.026515	0.05	964.43	74	chr12	56720329	.	C	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=621;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.118;SOR=0.656	GT:AD:DP:GQ:PL	0/1:40,39:79:99:976,0,1059	9	0	1	0
chr12	56720806	56720806	C	A	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G724T:p.A242S,NACA:NM_001365896:exon3:c.G724T:p.A242S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00984222075992	.	.	8.314e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs547750565	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.68238	D	0.924	0.18505	T	0.025	0.19245	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.37	0.34253	T	0.11	0.06026	N	0.079	0.05414	-1.0100	0.26917	T	0.038	0.16376	T	9	0.04027897	0.02584	T	0.009842	0.25653	T	0.028	0.06331	0.224	0.14813	0.0401082797425	0.02173	0.029372101696445472	0.02886	0.0199914739455	0.01959	0.260316967964	0.04928	T	0.05447	0.29735	T	-0.456064	0.01039	T	-0.711353	0.05226	T	0.0832268381520231	0.10394	T	0.432057	0.11757	T	0.04889258	0.08596	0.058267217	0.10737	0.04889258	0.08596	0.058267217	0.10737	-3.066	0.13570	T	.	.	0.086	0.10594	B	.;.	.;.	0.637960	0.10061	6.813	0.21926692250541083	0.00858	0.07521	0.13536	N	AEFDBCIJ	0.035926	0.04705	N	-1.46877402316892	0.02074	0.09118415	-1.53537263910468	0.02078	0.09504711	0.999980995899251	0.51787	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	2.99	-3.69	0.04162	-0.052000	0.11821	0.581000	0.19707	-0.210000	0.08370	0.009000	0.18154	0.990000	0.31317	0.003000	0.05239	0.0:0.1485:0.5399:0.3116	5.017	0.13685	45	0.97767	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1214.43	34	chr12	56720806	.	C	A	1214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.593;SOR=0.741	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1226,0,1309	9	0	1	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	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	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.15	3496.45	37	chr12	57002801	.	G	A	3496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.36;DP=576;ExcessHet=0.7463;FS=1.936;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.357;SOR=0.836	GT:AD:DP:GQ:PL	0/1:52,29:81:99:707,0,1247	7	0	3	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1878.43	33	chr12	57272472	.	G	A	1878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.819;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.239;SOR=0.715	GT:AD:DP:GQ:PL	0/1:70,81:151:99:1890,0,1526	9	0	1	0
chr12	57525356	57525356	G	A	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon6:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00134042138882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.45756	T	1.0	0.27679	T	0.879	0.48338	P	0.173	0.35463	B	0.029619	0.25429	N	0.277119	0.758215	0.29567	N	-1.04	0.01097	N	.	.	.	-0.25	0.68178	N	0.159	0.16586	-1.0853	0.06353	T	0.028	0.12058	T	9	0.084450185	0.14157	T	0.00134	0.01910	T	0.088	0.25558	0.177	0.08379	0.043077524339	0.03247	0.10204779964621111	0.10134	0.0451574241845	0.04887	0.558722376823	0.47088	T	0.011419	0.17455	T	-0.0232448	0.48391	T	-0.271166	0.47701	T	0.558904945850372	0.34814	D	0.724428	0.41876	T	0.07836063	0.17840	0.09579907	0.22736	0.07836063	0.17840	0.09579907	0.22735	-4.071	0.24861	T	.	.	0.069	0.08705	B	.;.;.	.;.;.	2.357035	0.30230	18.37	0.96886043339125905	0.31477	0.73813	0.36104	D	AEFDBCI	0.109978	0.21825	N	-0.131429511745762	0.36028	2.077097	-0.0372600179518153	0.38047	2.236059	0.999997291781035	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	3.73	3.73	0.41982	2.457000	0.44662	3.343000	0.37723	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	11.406	0.49139	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	53.41	39	chr12	57525356	.	G	A	53.41	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.291;DP=313;ExcessHet=0;FS=73.426;InbreedingCoeff=-0.2125;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=1.43;SOR=5.278	GT:AD:DP:GQ:PL	0/1:23,13:36:61:61,0,534	4	0	1	5
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A,SLC16A7:NM_001270622:exon5:c.A1081G:p.T361A,SLC16A7:NM_001270623:exon5:c.A1081G:p.T361A	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.008876	0.000000	0.000000	0.006098	0.007576	0.05	1983.43	34	chr12	59775376	.	A	G	1983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=454;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.308;SOR=0.601	GT:AD:DP:GQ:PL	0/1:57,77:134:99:1995,0,1287	9	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	339.01	50	chr12	70635944	.	G	A	339.01	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.055;DP=680;ExcessHet=1.5895;FS=383.437;InbreedingCoeff=-0.3405;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.752;SOR=9.735	GT:AD:DP:GQ:PL	0/1:37,15:52:54:54,0,702	4	0	4	2
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.15	4632.45	36	chr12	71577986	.	C	G	4632.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.166;DP=652;ExcessHet=0.7463;FS=1.104;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.084;SOR=0.81	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1233,0,1857	7	0	3	0
chr12	85280452	85280452	G	T	exonic	ALX1	.	nonsynonymous SNV	ALX1:NM_006982:exon1:c.G191T:p.R64L	.	6	1494	22	0	0	22	0.00730897	.	.	.	271706	ALX1-related_disorder|not_specified|Frontonasal_dysplasia_-_severe_microphthalmia_-_severe_facial_clefting_syndrome|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013271,MedGen:C3150706,OMIM:613456,Orphanet:306542|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.509	0.0592499689239	0.0054	0.00159744	0.0044	0.0010	0.0017	0	0.0021	0.0067	0.0057	0.0021	0.0043531	673	154602	rs115596276	0.0064	0.0064	0.0066	0.0062	0.0076	0.0063	0.0062	0.0074	0.0074	0.0011	0.0031	0.0018	0	0.0023	0.0071	0.0076	0.0051	0.0027	0.0041	0.0041	0.0042	0.0040	0.0067	0.0038	0.0037	0.0062	0.0060	0.0012	0	0.0044	0.0014	0	0.0017	0.0068	0.0067	0.0047	0.0033	0.02	0.49613	D	0.649	0.06762	T	0.962	0.55554	D	0.931	0.66596	D	0.000540	0.43581	D	0.188276	0.999866	0.50061	D	1.245	0.31408	L	-2.99	0.92108	D	-0.68	0.19509	N	0.625	0.63968	0.146	0.84994	D	0.643	0.87544	D	10	0.01105988	0.00243	T	0.05925	0.67601	D	0.509	0.78910	.	.	0.967460082661	0.96711	0.44468052893882365	0.44386	0.448061787425	0.44649	0.61287778616	0.54722	T	0.079756	0.36204	T	0.0674731	0.60540	T	0.32773	0.89416	D	0.0354192323646426	0.02880	T	0.868713	0.57175	D	0.28739017	0.51750	0.3639303	0.61770	0.28739017	0.51749	0.3639303	0.61770	-2.971	0.09872	T	.	.	0.188	0.40586	B	.	.	3.782305	0.54387	23.5	0.98294295884140181	0.39983	0.88877	0.49021	D	AEFDGBHCI	0.564656	0.57136	D	0.345098627229354	0.58481	4.020615	0.42490286711759	0.63120	4.539627	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.179345	0.04352	3	0.273489	0.05413	2	.	.	5.48	5.48	0.80675	3.818000	0.55378	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.352	0.94383	700	0.57880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005544	0.005102	0.009511	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1374.43	40	chr12	85280452	.	G	T	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.29;SOR=0.631	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1386,0,1330	9	0	1	0
chr12	96564728	96564728	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon19:c.A2582G:p.K861R,CFAP54:NM_001367885:exon19:c.A2582G:p.K861R	.	611	909	2	0	0	2	0.0010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00946945816732	.	0.000798722	0.0029	0	0	0	0	0	0	0.0051	0.0002393	37	154602	rs373034331	0.0004	0.0004	0.0001	0.0006	0.0038	0.0003	0.0003	0.0034	0.0032	0	0	0	0	0	0	3.439e-06	0.0001	0.0038	9.19e-05	9.186e-05	8.993e-05	9.396e-05	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.294	0.14793	T	0.077	0.42436	T	.	.	.	.	.	.	.	.	.	.	0.76988	0.29449	N	.	.	.	.	.	.	-1.1	0.28497	N	0.186	0.20262	-1.0252	0.22017	T	0.094	0.35524	T	6	0.004891604	0.00104	T	0.009469	0.24809	T	0.070	0.20419	0.195	0.10705	0.0884992946249	0.08302	0.057231000812959246	0.05664	0.185412501707	0.20846	.	.	.	0.019944	0.15791	T	-0.54203	0.00326	T	-0.551646	0.17167	T	0.0634636687696368	0.07702	T	0.482752	0.14626	T	0.097677	0.23027	0.08753647	0.20354	0.097677	0.23027	0.08753647	0.20354	-4.263	0.27655	T	.	.	0.085	0.10014	B	.	.	2.596809	0.33695	19.42	0.85935747190208978	0.16206	0.92912	0.56853	D	AEFBI	0.418886	0.48634	N	-0.0770545463065308	0.38400	2.248498	0.0181562030240589	0.40559	2.422431	0.998504432344673	0.37090	0.615465	0.37627	0	0.588066	0.40923	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.25	5.25	0.73169	3.232000	0.51003	7.933000	0.75122	0.691000	0.84096	0.993000	0.37899	1.000000	0.68203	0.201000	0.21925	1.0:0.0:0.0:0.0	12.683	0.56300	858	0.34001	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	210.43	41	chr12	96564728	.	A	G	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.066;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.79;SOR=0.74	GT:AD:DP:GQ:PL	0/1:11,11:22:99:222,0,222	9	0	1	0
chr12	102077365	102077365	C	T	exonic	NUP37	.	nonsynonymous SNV	NUP37:NM_024057:exon7:c.G679A:p.V227I	.	.	.	.	.	.	.	.	.	.	.	3190698	NUP37-related_disorder|Microcephaly_24,_primary,_autosomal_recessive	.|MONDO:MONDO:0032583,MedGen:C4748555,OMIM:618179	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.255	0.0129285335532	.	0.00179712	0.0012	0	0	0	0	0.0001	0	0.0083	0.0010543	163	154602	rs555014325	0.0006	0.0006	0.0004	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	4.472e-05	0	2.52e-05	1.873e-05	0.0005	7.554e-05	0.0007	0.0080	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0	0	0	9.436e-05	0	0.0001	0.0005	0.0066	0.308	0.14111	T	0.499	0.11227	T	0.783	0.44368	P	0.084	0.29270	B	0.000000	0.84330	D	0.051291	1	0.81001	D	1.995	0.54099	M	1.59	0.28836	T	-0.12	0.08809	N	0.511	0.54234	-1.0532	0.13520	T	0.078	0.31012	T	10	0.009912968	0.00222	T	0.012929	0.31926	T	0.255	0.56562	.	.	0.445910236696	0.44209	0.2671102968696263	0.26624	0.214958024292	0.24028	0.389136523008	0.23548	T	0.03887	0.24991	T	-0.416991	0.01788	T	-0.366628	0.37283	T	0.0720759083709548	0.08939	T	0.917608	0.70392	D	0.09921293	0.23412	0.11758331	0.28385	0.07152784	0.15842	0.15168387	0.35720	-4.561	0.31677	T	.	.	0.133	0.28807	B	.;.	.;.	3.693003	0.52633	23.3	0.99669754253659149	0.78523	0.98506	0.83503	D	AEFBI	0.818149	0.73947	D	0.50797254385428	0.67560	5.097976	0.622981289008239	0.76612	6.523299	0.999999997099647	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.358000	0.78724	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	783.43	34	chr12	102077365	.	C	T	783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=372;ExcessHet=0;FS=3.468;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.179;SOR=0.37	GT:AD:DP:GQ:PL	0/1:29,33:62:99:795,0,695	9	0	1	0
chr12	108561118	108561118	C	G	exonic	SART3	.	nonsynonymous SNV	SART3:NM_014706:exon1:c.G37C:p.E13Q	.	1	1517	3	1	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0293326976736	0.0006	0.00199681	0.0016	9.656e-05	8.66e-05	0	0	0.0010	0	0.0077	0.0014036	217	154602	rs139501952	0.0008	0.0008	0.0006	0.0010	0.0074	0.0008	0.0008	0.0069	0.0067	0	6.708e-05	0.0114	0	0	0.0019	0.0001	0.0015	0.0074	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0047	0.0040	2.406e-05	0	0	0.0132	0.0002	0	0	0.0002	0.0005	0.0064	0.0	0.91255	D	0.0	0.92824	D	0.875	0.77913	P	0.392	0.74104	B	0.000702	0.42254	D	0.154477	0.979535	0.25175	N	1.1	0.28011	L	2.39	0.58897	T	-0.22	0.62343	N	0.312	0.35194	-0.8442	0.52365	T	0.239	0.60714	T	10	0.0058586	0.00131	T	0.029333	0.51865	D	0.106	0.30130	.	.	0.615219230651	0.61211	0.2091203743473941	0.20828	0.216239903924	0.24148	0.452970683575	0.32349	T	0.029523	0.21136	T	-0.337831	0.05540	T	-0.253201	0.49500	T	0.155508700188148	0.17534	T	0.847215	0.53896	T	0.31908056	0.54562	0.34553924	0.60235	0.31908056	0.54562	0.34553924	0.60235	-6.467	0.50031	T	.	.	0.098	0.40295	B	.;.;.;.	.;.;.;.	3.887534	0.56547	23.7	0.98163932253587216	0.38797	0.36407	0.25526	N	ALL	0.145837	0.26914	N	0.224454698721521	0.52386	3.413135	0.21666321584717	0.50770	3.265739	0.999999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.99	4.03	0.46115	1.012000	0.29527	4.071000	0.41665	0.599000	0.40250	0.726000	0.28882	0.999000	0.35428	0.044000	0.14658	0.0:0.8088:0.1912:0.0	10.808	0.45734	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.007576	0.05	842.43	39	chr12	108561118	.	C	G	842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=420;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.431;SOR=0.519	GT:AD:DP:GQ:PL	0/1:23,35:58:99:854,0,467	9	0	1	0
chr12	110487913	110487913	A	G	exonic	FAM216A	.	nonsynonymous SNV	FAM216A:NM_013300:exon6:c.A673G:p.R225G	.	442	1054	25	1	0	27	0.0126464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0059	0.00379393	0.0058	0.0009	0.0016	0	0.0044	0.0088	0.0033	0.0038	0.0059572	921	154602	rs17188964	0.0079	0.0081	0.0079	0.0079	0.0139	0.0078	0.0077	0.0115	0.0106	0.0014	0.0022	0.0091	0	0.0051	0.0139	0.0090	0.0074	0.0041	0.0055	0.0055	0.0061	0.0049	0.0092	0.0052	0.0051	0.0086	0.0084	0.0012	0.0077	0.0042	0.0110	0	0.0028	0.0034	0.0092	0.0052	0.0035	0.004	0.65419	D	0.011	0.64786	D	0.965	0.56013	D	0.638	0.52030	P	0.055943	0.22600	N	0.323153	1	0.81001	D	1.04	0.26193	L	0.66	0.52416	T	-2.61	0.56144	D	0.236	0.26596	-1.0503	0.14313	T	0.057	0.23980	T	10	0.0070593655	0.00160	T	.	.	.	0.243	0.54921	.	.	0.402043589563	0.39814	0.21282060999458166	0.21198	0.177609951616	0.19982	0.311449468136	0.12126	T	0.111858	0.42768	T	-0.3221	0.06727	T	-0.228059	0.51959	T	0.0293136584605625	0.01885	T	0.762924	0.38892	T	0.15291925	0.34689	0.18153362	0.41023	0.15291925	0.34689	0.18153362	0.41022	-4.597	0.32134	T	.	.	0.204	0.42962	B	.	.	3.503975	0.49039	22.7	0.99829362642417319	0.91112	0.67799	0.33564	D	AEFBI	0.243090	0.36442	N	0.188194027518038	0.50632	3.251376	0.207468649649226	0.50260	3.220038	0.0107675638402065	0.12078	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.28	0.36691	0.794000	0.26619	5.137000	0.47688	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.7556:0.2444:0.0:0.0	7.402	0.26141	268	0.89479	.	GIT2|FAM109A	Spleen|Stomach	.	.	.	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	0.009577	0.000000	0.008152	0.020468	0.000000	0.000000	0.012195	0.011364	0.05	690.43	35	chr12	110487913	.	A	G	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.233;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.88;SOR=0.631	GT:AD:DP:GQ:PL	0/1:31,32:63:99:702,0,685	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:98,30:128:13:13,0,1515	5	0	5	0
chr12	111448012	111448035	TCCCTTCCTCACTGGGATTCAGAG	-	exonic	SH2B3	.	nonframeshift deletion	SH2B3:NM_001291424:exon7:c.832_855del:p.D283_W290del,SH2B3:NM_005475:exon8:c.1438_1461del:p.D485_W492del	Erythrocytosis, somatic;Myelofibrosis, somatic;Thrombocythemia, somatic	2	1518	2	0	0	2	0.000658328	.	.	.	2416979	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0014	9.632e-05	0.0004	0	0.0014	0.0015	0.0011	0.0031	0.0001537	4	26028	rs537932422	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0008	0.0022	0.0021	0.0001	0.0002	0	0.0001	0.0012	0.0002	0.0009	0.0006	0.0025	0.0005	0.0005	0.0005	0.0006	0.0023	0.0004	0.0004	0.0013	0.0010	9.63e-05	0	0.0002	0	0	0.0005	0	0.0009	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1522.39	39	chr12	111448011	.	CTCCCTTCCTCACTGGGATTCAGAG	C	1522.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=528;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.942;SOR=0.836	GT:AD:DP:GQ:PL	0/1:100,46:146:99:1534,0,3977	9	0	1	0
chr12	112193519	112193519	C	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon57:c.G8935T:p.G2979C	.	422	1099	1	0	0	1	0.000454752	.	.	.	2382132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.00643437999803	.	.	0.0002	0	0.0008	0	0	9.825e-05	0	0.0005	0.0001229	19	154602	rs767409810	8.219e-05	8.482e-05	5.177e-05	0.0001	0.0007	7.01e-05	6.56e-05	0.0006	0.0005	0	0.0002	0	0	0	0.0003	3.69e-05	0.0001	0.0007	6.567e-05	6.562e-05	7.709e-05	5.373e-05	0.0015	3.515e-05	2.615e-05	0.0007	0.0005	0	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0015	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.911	0.91621	-0.3892	0.72368	T	0.318	0.68744	T	9	0.50458217	0.61744	D	0.006434	0.16927	T	0.437	0.74164	.	.	0.082315109003	0.07666	0.7450850558303902	0.74454	1.01584935357	0.74947	0.775492191315	0.78249	T	0.02863	0.20698	T	0.179354	0.71983	D	0.364792	0.90880	D	0.388711333274841	0.28515	T	0.935306	0.75759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.871945	0.79818	27.2	0.99663094106454519	0.78074	0.98911	0.88512	D	AEFBI	0.884025	0.81339	D	0.659167126379517	0.76964	6.584259	0.694871766853234	0.81987	7.657315	0.999999999994748	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.513000	0.80629	4.902000	0.45868	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.136	0.93414	107	0.95615	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	981.43	36	chr12	112193519	.	C	A	981.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.903;DP=411;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=2.39;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,44:92:99:993,0,1149	9	0	1	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V,RASAL1:NM_001301202:exon4:c.C278T:p.A93V,RASAL1:NM_001193520:exon5:c.C278T:p.A93V,RASAL1:NM_004658:exon5:c.C278T:p.A93V	.	404	1089	28	1	0	30	0.013587	.	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.010101	0.005435	0.005848	0.000000	0.008621	0.000000	0.007576	0.05	1845.43	33	chr12	113127832	.	G	A	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.549;DP=435;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-1.071;SOR=0.76	GT:AD:DP:GQ:PL	0/1:50,79:129:99:1857,0,1101	9	0	1	0
chr12	117024319	117024319	G	A	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon9:c.G1342A:p.G448R,FBXW8:NM_153348:exon9:c.G1540A:p.G514R	.	429	1084	8	1	0	10	0.00459137	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00332819352193	0.0015	0.000399361	0.0013	0.0004	0.0009	0	0.0003	0.0017	0	0.0013	0.0013066	202	154602	rs142010584	0.0013	0.0013	0.0013	0.0013	0.0187	0.0013	0.0013	0.0159	0.0148	0.0005	0.0011	0.0013	0	0.0002	0.0187	0.0014	0.0013	0.0012	0.0012	0.0012	0.0013	0.0012	0.0022	0.0011	0.0010	0.0016	0.0015	0.0003	0.0022	0.0022	0.0006	0	0	0.0204	0.0019	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.002	0.11197	B	0.0	0.01387	B	0.000000	0.84330	N	0.047074	0.836	0.29226	N	-1.845	0.00268	N	3.43	0.05440	T	1.53	0.00711	N	0.293	0.33140	-0.9674	0.37733	T	0.006	0.01907	T	10	0.011959314	0.00259	T	0.003328	0.07421	T	0.098	0.28162	0.473	0.54859	0.244539031024	0.24083	.	.	0.157109992613	0.17741	0.331533193588	0.15166	T	0.16524	0.51102	T	-0.587322	0.00174	T	-0.6229	0.10960	T	0.00225716817220285	0.00023	T	0.822818	0.48291	T	0.07987753	0.18273	0.097957656	0.23335	0.07987753	0.18273	0.097957656	0.23335	-0.805	0.00807	T	.	.	0.079	0.07460	B	.;.	.;.	1.015592	0.13947	10.51	0.18951988614882864	0.00618	0.32919	0.24702	N	AEFGBI	0.042743	0.06672	N	-0.941593257564887	0.09882	0.4697278	-0.723344858370676	0.16380	0.8662315	0.989217057410612	0.31756	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	3.15	0.35301	2.536000	0.45351	3.059000	0.36152	-0.116000	0.14526	1.000000	0.71638	0.977000	0.30130	0.391000	0.26581	0.5932:0.3263:0.0805:0.0	7.392	0.26086	959	0.08690	.;.	.	.	.	.	.	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	0.014099	0.010101	0.009511	0.029240	0.000000	0.017241	0.015244	0.003788	0.05	881.43	34	chr12	117024319	.	G	A	881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=386;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.321;SOR=0.52	GT:AD:DP:GQ:PL	0/1:35,31:66:99:893,0,835	9	0	1	0
chr12	121038949	121038949	T	C	exonic	OASL	.	nonsynonymous SNV	OASL:NM_001261825:exon1:c.A23G:p.Y8C,OASL:NM_003733:exon1:c.A23G:p.Y8C,OASL:NM_198213:exon1:c.A23G:p.Y8C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0138925104751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.45039	D	0.097	0.60337	T	1.0	0.90584	D	0.99	0.78936	D	0.391117	0.13254	N	0.685486	0.999999	0.08975	N	2.545	0.74286	M	3.03	0.08898	T	-6.92	0.93786	D	0.435	0.50778	-1.0969	0.04487	T	0.061	0.25563	T	10	0.3246258	0.49784	T	0.013893	0.33629	T	0.116	0.32463	0.393	0.41770	0.471539375507	0.46780	0.41529224627688377	0.41445	0.506076824733	0.48830	0.413461863995	0.26936	T	0.291252	0.66401	T	-0.120227	0.33087	T	-0.410474	0.32170	T	0.914832711219788	0.57163	D	0.880812	0.59928	D	0.27048865	0.50121	0.22963075	0.48040	0.27048865	0.50120	0.22963075	0.48039	-6.327	0.49891	T	.	.	0.244	0.47816	B	.;.;.	.;.;.	2.543777	0.32911	19.18	0.98389235681295373	0.40936	0.45949	0.27652	N	AEFDGBHCI	0.147276	0.27091	N	-0.340081995042455	0.27637	1.517973	-0.58044034124063	0.20004	1.075784	0.999997660046784	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.547309	0.15389	0	0.603991	0.37454	0	.	.	5.66	0.111	0.13925	0.244000	0.17899	0.526000	0.19207	-0.157000	0.11712	0.073000	0.22155	0.184000	0.23444	0.002000	0.04165	0.5861:0.0:0.0:0.4139	9.854	0.40246	662	0.61715	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1269.43	36	chr12	121038949	.	T	C	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=406;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.4;SOR=0.49	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1281,0,1053	9	0	1	0
chr12	121823507	121823507	G	A	exonic	SETD1B	.	nonsynonymous SNV	SETD1B:NM_001353345:exon12:c.G4928A:p.R1643H	.	.	.	.	.	.	.	.	.	.	.	2685690	Inborn_genetic_diseases|Intellectual_developmental_disorder_with_seizures_and_language_delay	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033559,MedGen:C5436574,OMIM:619000	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.568	0.063105743994	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376856381	1.144e-05	1.094e-05	7.056e-06	1.595e-05	1.483e-05	6.77e-06	5.48e-06	8.78e-06	7.1e-06	0	0	0	0	0	0	1.483e-05	0	0	4.601e-05	4.597e-05	2.569e-05	6.73e-05	0.0002	2.11e-05	1.527e-05	2.847e-05	1.858e-05	2.414e-05	0	0	0	0.0002	0	0	7.35e-05	0	0	0.001	0.78490	D	0.107	0.37730	T	.	.	.	.	.	.	0.001046	0.40475	N	0.241213	0.999697	0.48338	D	2.33	0.66821	M	-3.69	0.95317	D	-2.72	0.57920	D	0.218	0.26475	0.767	0.94008	D	0.858	0.95261	D	10	0.2843191	0.46014	T	0.063106	0.68863	D	0.568	0.82403	.	.	0.928248603526	0.92751	0.3982893428195196	0.39743	1.60401244606	0.88746	0.651816308498	0.60243	T	0.009476	0.19191	T	0.0163094	0.53883	T	-0.0290767	0.68430	D	0.424658715724945	0.29863	T	0.79912	0.46506	T	0.07487818	0.16833	0.06542833	0.13260	0.07487818	0.16832	0.06542833	0.13259	-6.097	0.47420	T	.	.	0.303	0.53214	B	.;.;.;.	.;.;.;.	4.114324	0.61441	24.3	0.98399066530355084	0.41042	0.93452	0.58255	D	AEFBCI	0.571751	0.57561	D	0.47580621708261	0.65682	4.853123	0.442579181663103	0.64242	4.67491	0.999934789558074	0.46732	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	5.442000	0.66324	11.327000	0.92535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0829:0.0:0.9171:0.0	11.487	0.49609	619	0.66147	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	511.43	33	chr12	121823507	.	G	A	511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.323;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=2.35;SOR=0.746	GT:AD:DP:GQ:PL	0/1:33,25:58:99:523,0,706	9	0	1	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	191.14	45	chr12	124430757	.	G	A	191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.9;DP=766;ExcessHet=0.2348;FS=262.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.621;SOR=8.885	GT:AD:DP:GQ:PL	0/1:103,41:149:99:123,0,1558	8	0	2	0
chr12	125519578	125519578	A	G	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon4:c.A1246G:p.I416V,TMEM132B:NM_052907:exon4:c.A1231G:p.I411V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00468595685306	8.2e-05	0.000998403	0.0009	0	8.639e-05	0	0	4.495e-05	0.0011	0.0065	0.0007697	119	154602	rs367761714	0.0004	0.0004	0.0002	0.0005	0.0059	0.0003	0.0003	0.0055	0.0053	2.987e-05	0	0	0	0	0	9.892e-06	0.0004	0.0059	0.0001	0.0001	5.143e-05	0.0002	0.0035	8.168e-05	6.724e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.941e-05	0	0.0035	0.016	0.51853	D	0.111	0.37173	T	0.012	0.16265	B	0.018	0.18489	B	0.003176	0.35330	U	0.000000	0.994557	0.23493	N	1.965	0.53209	M	2.53	0.14038	T	-0.73	0.20576	N	0.332	0.37301	-1.1007	0.04008	T	0.036	0.15378	T	10	0.010567397	0.00235	T	0.004686	0.11628	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.4081641247310896	0.40732	0.22983979059	0.25536	0.613262414932	0.54777	T	0.029876	0.21306	T	-0.576153	0.00203	T	-0.597212	0.13047	T	0.054463989431312	0.06267	T	0.719828	0.33277	T	0.076252215	0.17234	0.08053638	0.18226	0.076252215	0.17234	0.08053638	0.18225	-5.458	0.41474	T	.	.	0.138	0.30238	B	.	.	2.376663	0.30503	18.46	0.99399752398532892	0.62748	0.88091	0.47869	D	AEFGBI	0.424861	0.48986	N	-0.145913976442696	0.35409	2.033448	-0.013239667867455	0.39115	2.314442	0.703824466382289	0.22734	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.12	3.95	0.44952	3.917000	0.56136	5.822000	0.50091	0.736000	0.85976	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9263:0.0:0.0737:0.0	11.132	0.47572	922	0.19044	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	458.43	38	chr12	125519578	.	A	G	458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=387;ExcessHet=0;FS=3.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.74;SOR=1.668	GT:AD:DP:GQ:PL	0/1:23,17:40:99:470,0,637	9	0	1	0
chr12	125654210	125654210	C	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C1273A:p.L425M,TMEM132B:NM_001366854:exon9:c.C2752A:p.L918M,TMEM132B:NM_052907:exon9:c.C2737A:p.L913M	.	433	1032	57	0	0	57	0.0268741	.	.	.	3547032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.165	.	0.0062	0.0115815	0.0115	0.0015	0.0079	0.0001	0.0006	0.0072	0.0111	0.0476	0.0106079	1640	154602	rs61940807	0.0094	0.0094	0.0083	0.0105	0.0426	0.0092	0.0092	0.0414	0.0410	0.0016	0.0070	0.0057	7.557e-05	0.0007	0.0161	0.0079	0.0092	0.0426	0.0064	0.0064	0.0060	0.0068	0.0422	0.0060	0.0059	0.0375	0.0357	0.0014	0.0033	0.0081	0.0043	0.0002	9.413e-05	0.0068	0.0081	0.0071	0.0422	0.011	0.55530	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000254	0.46924	D	0.000000	0.999782	0.49076	D	2.995	0.85803	M	1.72	0.26588	T	-1.69	0.40274	N	0.133	0.18920	-1.0491	0.14649	T	0.084	0.32900	T	10	0.0061185956	0.00138	T	.	.	.	0.165	0.42395	.	.	.	.	0.7177398300703923	0.71716	0.578337520646	0.53735	0.835967540741	0.87479	D	0.233202	0.59995	T	-0.408305	0.02040	T	-0.326422	0.41865	T	0.0753760093020155	0.09385	T	0.772923	0.48860	T	0.15482831	0.35023	0.1645731	0.38116	0.15482831	0.35023	0.1645731	0.38115	-8.98	0.67568	D	.	.	0.158	0.35034	B	.;.	.;.	1.996945	0.25370	16.74	0.99494354494424719	0.67630	0.35415	0.25296	N	AEFI	0.202736	0.32930	N	-0.00257369934828527	0.41739	2.502031	-0.172327550528987	0.32559	1.853576	1.20154442700449E-4	0.05269	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.43	-0.724	0.10613	0.058000	0.14178	-0.197000	0.10982	0.599000	0.40250	0.049000	0.21372	0.000000	0.08366	0.975000	0.56047	0.0:0.1871:0.0:0.8129	10.385	0.43319	936	0.14734	Transmembrane protein TMEM132, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008152	0.011696	0.000000	0.000000	0.003049	0.041667	0.05	1928.43	36	chr12	125654210	.	C	A	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.949;DP=472;ExcessHet=0;FS=4.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.56;SOR=0.404	GT:AD:DP:GQ:PL	0/1:69,84:153:99:1940,0,1708	9	0	1	0
chr12	128957587	128957587	G	A	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366888:exon7:c.G415A:p.G139R,GLT1D1:NM_144669:exon7:c.G583A:p.G195R,GLT1D1:NM_001366887:exon10:c.G697A:p.G233R,GLT1D1:NM_001366886:exon11:c.G823A:p.G275R,GLT1D1:NM_001366889:exon12:c.G871A:p.G291R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.138111969379	7.7e-05	.	1.652e-05	0	0	0.0001	0	1.502e-05	0	0	1.29e-05	2	154602	rs375323637	3.421e-06	3.42e-06	4.085e-06	2.751e-06	6.708e-05	1e-06	7.3e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	8.994e-07	1.656e-05	0	3.943e-05	3.94e-05	3.855e-05	4.036e-05	4.827e-05	1.716e-05	1.13e-05	8e-06	2.99e-06	4.827e-05	0	0	0.0003	0	0	0	1.47e-05	0.0010	0	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.195	0.97796	H	-2.3	0.87671	D	-6.98	0.93810	D	0.992	0.99822	0.900	0.95668	D	0.846	0.94867	D	10	0.9653275	0.96004	D	0.138112	0.82061	D	0.892	0.96910	0.833	0.94168	0.930611013341	0.92990	0.7599147936522032	0.75939	0.714303681493	0.61876	0.763496160507	0.76451	T	0.717003	0.91972	D	0.469156	0.93303	D	0.436133	0.93218	D	0.99868780374527	0.94856	D	0.970603	0.90384	D	0.7434129	0.80488	0.767715	0.86281	0.7434129	0.80490	0.767715	0.86282	-15.488	0.96891	D	.	.	0.899	0.85945	P	.;.;.	.;.;.	5.147357	0.86196	28.8	0.99891580844154326	0.96589	0.97239	0.73514	D	AEFDBI	0.933398	0.92525	D	0.760026163155256	0.83556	8.048497	0.620637642995023	0.76441	6.491464	0.999999953256421	0.74766	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	8.712000	0.91099	11.377000	0.92619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.0:1.0:0.0	18.378	0.90386	994	0.00715	Glycosyl transferase, family 1;.;Glycosyl transferase, family 1	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1220.43	35	chr12	128957587	.	G	A	1220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=384;ExcessHet=0;FS=0.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.731;SOR=0.665	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1232,0,632	9	0	1	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H,SFSWAP:NM_001261411:exon17:c.G2867A:p.R956H	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005181	0.000000	0.002717	0.013986	0.000000	0.000000	0.003049	0.018939	0.05	516.43	39	chr12	131797354	.	G	A	516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.765;DP=338;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.243;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,22:43:99:0|1:131797354_G_A:528,0,642:131797354	9	0	1	0
chr12	132139769	132139769	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1840A:p.E614K	.	421	1082	19	0	0	19	0.00870362	0.9972	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	8.2e-05	0.00139776	0.0011	0	0.0003	0	0	0.0003	0.0045	0.0059	0.0009702	150	154602	rs61756267	0.0006	0.0006	0.0004	0.0008	0.0052	0.0006	0.0005	0.0048	0.0046	0.0001	0.0012	0.0021	0	0	0.0045	0.0002	0.0012	0.0052	0.0007	0.0007	0.0005	0.0009	0.0052	0.0006	0.0005	0.0036	0.0031	7.214e-05	0	0.0029	0.0037	0	0	0	0.0003	0.0005	0.0052	0.025	0.47320	D	0.18	0.29442	T	0.129	0.27048	B	0.046	0.24676	B	0.000001	0.62929	D	0.054980	1	0.81001	D	1.445	0.36358	L	3.57	0.04645	T	-1.73	0.41046	N	0.471	0.50688	-1.0126	0.26101	T	0.016	0.06569	T	10	0.0046678483	0.00098	T	0.032693	0.54453	D	0.134	0.36365	.	.	0.403752378121	0.39992	0.7178263397088908	0.71725	0.0552922057858	0.06117	0.499011039734	0.38689	T	0.008297	0.07627	T	-0.369205	0.03634	T	-0.301609	0.44555	T	0.0634454041719437	0.07699	T	0.915108	0.69728	D	0.26220235	0.49281	0.20861706	0.45170	0.26220235	0.49281	0.20861706	0.45169	-12.861	0.88782	D	.	.	0.325	0.54876	B	.	.	6.167891	0.94711	34	0.99256196848607692	0.57055	0.94742	0.62174	D	AEFBCI	0.626278	0.60916	D	-0.185047597707506	0.33756	1.918782	-0.100251716439137	0.35381	2.046259	0.999994146298054	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	2.670000	0.46499	7.547000	0.60197	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	14.905	0.70355	912	0.21483	Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.018293	0.000000	0.05	1922.43	35	chr12	132139769	.	C	T	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=473;ExcessHet=0;FS=4.087;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.488;SOR=0.472	GT:AD:DP:GQ:PL	0/1:59,79:138:99:1934,0,1351	9	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1287.43	39	chr12	133057131	.	A	G	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.409;DP=501;ExcessHet=0;FS=2.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.494;SOR=0.962	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1299,0,1662	9	0	1	0
chr13	20489381	20489381	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon3:c.A265G:p.M89V,CRYL1:NM_015974:exon3:c.A265G:p.M89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0115111274047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.04972	T	0.437	0.14241	T	0.0	0.02946	B	0.001	0.04355	B	0.339707	0.13982	N	0.753598	1	0.08975	N	-0.65	0.02095	N	-0.98	0.75789	T	-0.21	0.10308	N	0.07	0.05542	-0.9780	0.35458	T	0.096	0.36055	T	10	0.0695577	0.09996	T	0.011511	0.29207	T	0.213	0.50496	0.616	0.75000	0.132336055621	0.12781	0.4821733683451786	0.48137	0.193578547885	0.21691	0.246857315302	0.03444	T	0.140505	0.47507	T	-0.226595	0.17102	T	-0.563264	0.16071	T	0.0281886956001466	0.01716	T	0.711029	0.32905	T	0.112132	0.26494	0.07956691	0.17924	0.112132	0.26493	0.07956691	0.17923	-1.804	0.03512	T	.	.	0.058	0.01408	B	.;.;.;.	.;.;.;.	-0.803880	0.01099	0.049	0.59583110333686606	0.06259	0.00524	0.02436	N	ALL	0.136595	0.25731	N	-1.9107347795612	0.00326	0.0140185	-1.92532144487048	0.00436	0.01929046	0.999999999999733	0.74766	0.706298	0.61202	0	0.779548	0.99637	0	0.659943	0.59835	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-0.506000	0.06441	-2.712000	0.03440	-1.675000	0.00794	0.472000	0.26737	0.000000	0.08366	0.551000	0.30197	0.0:0.4672:0.3086:0.2243	10.385	0.43317	862	0.33134	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1947.43	33	chr13	20489381	.	T	C	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=429;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.348;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,53:121:99:0|1:20489381_T_C:1959,0,2655:20489381	9	0	1	0
chr13	21155151	21155151	-	AG	splicing	SKA3	NM_145061:exon9:c.1239-1->CT;NM_001166017:exon8:c.1120-1->CT	.	.	.	433	984	41	0	64	105	0.0204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.512e-05	9.235e-05	6.967e-05	0.0001	0.0003	7.234e-05	6.82e-05	7.158e-05	5.507e-05	0	0.0001	0.0002	0.0002	0.0008	0.0003	4.061e-05	9.975e-05	0.0001	0.0025	0.0033	0.0022	0.0028	0.0044	0.0023	0.0022	0.0029	0.0025	0.0006	0.0011	0.0030	0.0041	0.0043	0.0058	0.0034	0.0027	0.0043	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	805.39	34	chr13	21155151	.	C	CAG	805.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.41;DP=350;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-1.754;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,22:56:99:0|1:21155151_C_CAG:817,0,1367:21155151	9	0	1	0
chr13	21155152	21155152	-	TTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTG	splicing	SKA3	NM_145061:exon9:c.1239-2->CACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAA;NM_001166017:exon8:c.1120-2->CACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAA	.	.	.	456	1062	4	0	0	4	0.0018797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0008	0	0.0003	0.0031	0.0002	.	.	.	.	6.038e-05	5.541e-05	5.047e-05	7.052e-05	0.0004	4.881e-05	4.481e-05	7.935e-05	5.86e-05	0	0	4.741e-05	4.049e-05	0.0012	0.0004	1.521e-05	8.352e-05	0.0002	0.0007	0.0013	0.0005	0.0009	0.0025	0.0006	0.0005	0.0012	0.0008	7.757e-05	0	0.0006	0.0008	0.0025	0.0029	0.0041	0.0007	0.0013	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	805.39	34	chr13	21155152	.	T	TTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTG	805.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.94;DP=350;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-2.469;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,22:56:99:0|1:21155151_C_CAG:817,0,1367:21155151	9	0	1	0
chr13	21155813	21155813	-	GG	splicing	SKA3	NM_145061:exon8:c.1120-2->CC	.	.	.	629	164	50	18	661	747	0.207729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0001	0.0001	0.0029	0.0001	9.502e-05	0.0017	0.0013	4.473e-05	3.209e-05	4.826e-05	2.856e-05	0.0011	0.0029	5.098e-05	6.97e-05	0.0002	0.0007	0.0008	0.0005	0.0010	0.0018	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0010	0.0012	0.0018	0.0021	0	0.0007	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	8245.41	74	chr13	21155813	.	T	TGG	8245.41	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.14;DP=603;ExcessHet=0.0405;FS=3.03;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=-0.437;SOR=0.526	GT:AD:DP:GQ:PL	0/1:15,26:60:13:972,13,1288	9	0	1	0
chr13	24456477	24456477	C	A	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon21:c.G2426T:p.R809L	.	432	1085	5	0	0	5	0.00229885	0.0017	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00154128235456	0.0002	0.000199681	0.0003	0.0004	0.0003	0	0	0.0004	0	0.0004	0.0003428	53	154602	rs139822298	0.0008	0.0008	0.0007	0.0008	0.0046	0.0007	0.0007	0.0032	0.0027	0.0005	0.0002	0.0007	0	0	0.0046	0.0009	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0009	0	0	0	0.0005	0.0009	0.0004	0.115	0.28520	T	0.046	0.49120	D	0.003	0.11197	B	0.003	0.08700	B	0.222463	0.16106	N	0.648951	0.994125	0.23582	N	1.49	0.37298	L	4.47	0.02084	T	-3.81	0.71882	D	0.127	0.12055	-0.9454	0.41748	T	0.007	0.02244	T	10	0.028463155	0.00978	T	0.001541	0.02420	T	0.026	0.05648	.	.	0.45783149361	0.45410	0.5423991284808045	0.54164	0.148599470871	0.16762	0.258025318384	0.04658	T	0.23233	0.59887	T	-0.58978	0.00168	T	-0.660488	0.08233	T	0.0310619543623309	0.02156	T	0.548145	0.18826	T	0.09118615	0.21358	0.11336637	0.27359	0.09118615	0.21358	0.11336637	0.27358	-6.523	0.50464	T	.	.	0.206	0.43227	B	.	.	1.764122	0.22436	15.62	0.98906901200258734	0.48290	0.44083	0.27240	N	AEFDBI	0.053251	0.09578	N	-0.470212845328771	0.23060	1.235734	-0.395247637910924	0.25138	1.380649	0.00407912434150938	0.10406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	2.11	0.26299	0.513000	0.22476	-0.959000	0.06786	-0.210000	0.08370	0.892000	0.31242	0.000000	0.08366	0.504000	0.29107	0.4169:0.424:0.0:0.1592	3.475	0.07146	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	536.43	35	chr13	24456477	.	C	A	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.236;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.012;SOR=0.843	GT:AD:DP:GQ:PL	0/1:26,23:49:99:548,0,598	9	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	402.43	34	chr13	28322931	.	T	C	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.124;DP=288;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.645;SOR=1.112	GT:AD:DP:GQ:PL	0/1:9,17:26:99:414,0,191	9	0	1	0
chr13	30461464	30461464	T	C	exonic	HMGB1	.	nonsynonymous SNV	HMGB1:NM_001313892:exon5:c.A541G:p.S181G,HMGB1:NM_001313893:exon5:c.A541G:p.S181G,HMGB1:NM_001370340:exon5:c.A541G:p.S181G,HMGB1:NM_001370341:exon5:c.A541G:p.S181G,HMGB1:NM_002128:exon5:c.A541G:p.S181G	.	501	1009	11	1	0	13	0.00640079	.	.	.	725447	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.122	0.0172178411702	0.0004	0.00199681	0.0028	0.0004	0.0095	0	0	0.0030	0.0041	0.0032	0.0010608	164	154602	rs201813276	0.0020	0.0019	0.0019	0.0020	0.0052	0.0019	0.0019	0.0035	0.0030	0.0003	0.0025	0	2.652e-05	0.0003	0.0052	0.0021	0.0018	0.0025	0.0021	0.0021	0.0021	0.0021	0.0064	0.0019	0.0018	0.0054	0.0050	0.0004	0.0022	0.0064	0	0	0	0	0.0026	0.0024	0.0025	0.008	0.58626	D	0.106	0.37872	T	0.015	0.17086	B	0.037	0.23121	B	0.000008	0.62929	D	0.000000	1	0.81001	D	2.415	0.69758	M	-0.27	0.67367	T	-1.93	0.44852	N	0.289	0.32701	-0.8050	0.54849	T	0.193	0.54637	T	10	0.0064373314	0.00146	T	0.017218	0.38829	T	0.122	0.33800	.	.	0.508253470527	0.50464	0.047477941075010466	0.04690	4.45352357014E-4	0.00045	0.697665333748	0.66807	T	0.186568	0.53990	T	-0.29875	0.08778	T	-0.205275	0.54146	T	0.022525696088737	0.00968	T	0.755524	0.37862	T	0.17734392	0.38695	0.16592257	0.38359	0.17734392	0.38694	0.16592257	0.38358	-3.14	0.11761	T	.	.	0.119	0.24464	B	.;.;.;.	.;.;.;.	3.962895	0.58130	23.9	0.98068776547292524	0.38007	0.82276	0.41528	D	AEBCI	0.301236	0.40981	N	-0.00672478273009303	0.41550	2.487318	0.179544986595508	0.48727	3.084801	0.999999599861377	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.873000	0.48173	5.044000	0.46937	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0757:0.0:0.9243	10.090	0.41614	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005118	0.005263	0.006831	0.000000	0.050000	0.008621	0.000000	0.003846	0.05	330.43	36	chr13	30461464	.	T	C	330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=254;ExcessHet=0;FS=4.419;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=50.82;MQRankSum=-1.221;QD=15.73;ReadPosRankSum=-1.798;SOR=2.03	GT:AD:DP:GQ:PL	0/1:11,10:21:99:342,0,363	9	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:70,41:111:99:228,0,1081	2	0	6	2
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,21:87:99:.:.:127,0,1908:.	3	0	7	0
chr13	45580632	45580632	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon6:c.A890G:p.Q297R	.	.	.	.	.	.	.	.	.	.	.	2207172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.00401159484932	0.0009	0.000399361	0.0002	0.0023	0	0	0	0	0	0	6.47e-05	10	154602	rs368539765	8.146e-05	7.798e-05	8.46e-05	7.824e-05	0.0028	6.894e-05	6.416e-05	0.0023	0.0021	0.0028	8.402e-05	0	0	0	0	1.854e-06	0.0004	0	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0011	0.0016	0	0.0003	0	0	0	0	0	0	0	0.302	0.14400	T	0.42	0.14116	T	0.784	0.44396	P	0.235	0.38432	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	3.14	0.07920	T	-0.2	0.10136	N	0.047	0.01911	-0.9738	0.36387	T	0.011	0.03903	T	9	0.0059637427	0.00134	T	0.004012	0.09525	T	0.155	0.40530	.	.	0.0138822411134	0.00435	0.020488889350371554	0.02001	.	.	0.271177917719	0.06295	T	0.007439	0.06846	T	-0.664734	0.00059	T	-0.732859	0.04199	T	0.0212071774772455	0.00822	T	0.317868	0.06361	T	0.073668785	0.16479	0.051992632	0.08479	0.073668785	0.16479	0.051992632	0.08479	-3.798	0.20775	T	.	.	0.086	0.10931	B	.	.	0.208764	0.05926	2.366	0.96551127621945398	0.30225	0.04996	0.10770	N	AEFBI	0.039830	0.05838	N	-0.780094967839551	0.13829	0.6841813	-0.915457684031054	0.11730	0.5993467	2.85296503719265E-4	0.06355	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.02	0.41	0.15605	0.004000	0.13007	-0.643000	0.08067	0.644000	0.52426	0.001000	0.13787	0.000000	0.08366	0.152000	0.20376	0.2232:0.0:0.2314:0.5454	3.669	0.07803	709	0.56835	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	821.43	34	chr13	45580632	.	T	C	821.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=367;ExcessHet=0;FS=1.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=1.37;SOR=0.404	GT:AD:DP:GQ:PL	0/1:13,33:46:99:833,0,263	9	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	65.5	124	chr13	48459808	.	T	C	65.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.846;DP=820;ExcessHet=0.7463;FS=98.847;InbreedingCoeff=-0.1558;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.782;SOR=9.616	GT:AD:DP:GQ:PL	0/1:96,31:127:33:33,0,1789	7	0	3	0
chr13	51281140	51281140	T	G	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon4:c.T1525G:p.S509A,FAM124A:NM_145019:exon5:c.T1633G:p.S545A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0102852259078	0.0007	0.000399361	0.0002	0.0019	0.0002	0	0	1.502e-05	0	0	0.0001811	28	154602	rs142444243	4.378e-05	4.378e-05	4.9e-05	3.85e-05	0.0015	3.509e-05	3.193e-05	0.0011	0.0010	0.0015	0.0002	0	0	0	0.0002	3.597e-06	3.312e-05	1.159e-05	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.563e-05	0	0	0	0	0	0	0.0002	0.189	0.23997	T	0.124	0.35455	T	0.017	0.21998	B	0.013	0.16460	B	0.204315	0.16521	N	0.541154	1	0.08975	N	2.045	0.56016	M	0.86	0.47130	T	-0.66	0.19085	N	0.109	0.27197	-1.0007	0.29717	T	0.084	0.32957	T	10	0.005458355	0.00120	T	0.010285	0.26632	T	0.113	0.31778	.	.	0.584274139494	0.58100	0.18127264353983008	0.18046	0.370271297437	0.38553	0.291831940413	0.09189	T	0.005794	0.05238	T	-0.553801	0.00277	T	-0.574131	0.15072	T	0.0136709909040761	0.00255	T	0.268873	0.04498	T	0.037277296	0.04748	0.030146684	0.01435	0.037277296	0.04748	0.030146684	0.01435	-4.249	0.27455	T	.	.	0.069	0.03093	B	.;.	.;.	0.480776	0.08503	5.264	0.97769337971388259	0.35857	0.07759	0.13758	N	AEFDBI	0.077210	0.15552	N	-0.760757781598991	0.14342	0.7136739	-0.800206530501956	0.14490	0.7573773	0.954830637536814	0.28153	0.645754	0.44609	0	0.563428	0.19063	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	5.2	-0.614	0.11009	-0.383000	0.07456	-1.843000	0.04626	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.429000	0.27427	0.2992:0.0792:0.2092:0.4123	1.514	0.02350	893	0.26510	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1438.43	34	chr13	51281140	.	T	G	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.415;DP=456;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.264;SOR=0.904	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1450,0,1949	9	0	1	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.035354	0.019022	0.005848	0.000000	0.008621	0.000000	0.000000	0.05	1725.43	33	chr13	51739117	.	G	A	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=448;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.509;SOR=0.865	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1737,0,1659	9	0	1	0
chr13	51769275	51769275	G	A	exonic	DHRS12	.	nonsynonymous SNV	DHRS12:NM_001377533:exon8:c.C578T:p.P193L,DHRS12:NM_024705:exon8:c.C578T:p.P193L,DHRS12:NM_001270424:exon9:c.C725T:p.P242L,DHRS12:NM_001377930:exon9:c.C650T:p.P217L,DHRS12:NM_001377931:exon9:c.C734T:p.P245L,DHRS12:NM_001377932:exon9:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00883262206168	.	0.000399361	0.0002	0.0002	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs574218664	3.574e-05	3.967e-05	3.466e-05	3.685e-05	0.0002	2.763e-05	2.498e-05	9.971e-05	7.093e-05	0.0002	4.788e-05	0	0	0	0	3.659e-05	3.401e-05	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.718e-05	0.0002	0.0002	0.0004	0	6.538e-05	0	0	0	0	8.821e-05	0	0	0.019	0.54683	D	0.004	0.79402	D	0.936	0.67487	P	0.42	0.58220	B	.	.	.	.	0.952045	0.26451	N	3.385	0.91502	M	1.99	0.21666	T	-8.58	0.98022	D	0.186	0.20262	-0.9782	0.35413	T	0.100	0.37265	T	9	0.10534829	0.19468	T	0.008833	0.23294	T	0.204	0.49076	.	.	0.227934060464	0.22382	0.13821831678133026	0.13745	0.167412235098	0.18886	0.343033909798	0.16892	T	0.071819	0.34303	T	-0.406968	0.02083	T	-0.46598	0.25950	T	0.803594410419464	0.46599	D	0.565643	0.19997	T	0.107840754	0.25500	0.112643376	0.27180	0.107840754	0.25500	0.112643376	0.27180	-11.479	0.82220	D	.	.	0.483	0.64907	A	.;.	.;.	1.674468	0.21346	15.16	0.85436376369978206	0.15891	0.16582	0.19455	N	AEFBHCI	0.058441	0.10966	N	-0.673931807781613	0.16767	0.8571383	-0.914526259184156	0.11751	0.600593	0.999842077906365	0.43971	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.567892	0.33627	0	.	.	2.74	-1.6	0.07977	2.802000	0.47612	-0.457000	0.09062	-0.550000	0.04901	0.993000	0.37899	0.000000	0.08366	0.007000	0.07825	0.178:0.0:0.6596:0.1624	6.279	0.20202	878	0.29785	.;.	.	.	.	.	.	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	0.000508	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	772.43	33	chr13	51769275	.	G	A	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.346;SOR=0.71	GT:AD:DP:GQ:PL	0/1:48,37:85:99:784,0,1069	9	0	1	0
chr13	53041970	53041970	C	T	exonic	OLFM4	.	stopgain	OLFM4:NM_006418:exon3:c.C418T:p.R140X	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.125e-05	0	0.0002	0	0	4.501e-05	0	0	3.88e-05	6	154602	rs200157912	2.668e-05	2.668e-05	2.587e-05	2.751e-05	0.0005	1.998e-05	1.754e-05	0.0001	7.544e-05	0	4.474e-05	0	2.52e-05	0	0.0005	2.608e-05	4.968e-05	1.159e-05	1.973e-05	2.627e-05	1.285e-05	2.694e-05	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.478290	0.12196	N	0.743493	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.877	0.87481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205374	0.74394	D	0.282931	0.87280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.274729	0.96343	36	0.99795843349267532	0.88106	0.11410	0.16615	N	AEFI	0.289153	0.40087	N	0.498533137079004	0.67005	5.024151	0.28808504739127	0.54842	3.648183	2.22307475107998E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	4.79	0.60909	1.329000	0.33375	2.259000	0.31747	0.599000	0.40250	0.001000	0.13787	0.999000	0.35428	0.347000	0.25591	0.2621:0.7379:0.0:0.0	13.319	0.59860	339	0.86048	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1811.43	40	chr13	53041970	.	C	T	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=462;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.12;SOR=0.836	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1823,0,1681	9	0	1	0
chr13	63832702	63832702	G	A	exonic	LOC647264	.	nonsynonymous SNV	LOC647264:NM_001370368:exon1:c.C292T:p.R98W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412123296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	6.612e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11462158	0.21572	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465653	0.13651	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48489	B	.	.	1.214897	0.16082	12.30	0.28792767126974156	0.01496	0.02469	0.06929	N	AEFI	.	.	.	.	.	.	.	.	.	8.09018747168187E-4	0.07842	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	1.2	-2.4	0.06204	-0.999000	0.03808	-1.520000	0.05255	-1.329000	0.01219	0.941000	0.32681	0.000000	0.08366	0.032000	0.13371	0.2173:0.0:0.5199:0.2628	2.638	0.04663	986	0.02773	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	423.43	34	chr13	63832702	.	G	A	423.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.603;DP=321;ExcessHet=0;FS=1.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37;MQRankSum=-1.035;QD=10.33;ReadPosRankSum=-0.078;SOR=0.466	GT:AD:DP:GQ:PL	0/1:21,20:41:99:435,0,484	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:82,52:140:99:232,0,995	0	0	10	0
chr13	98244690	98244690	A	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001001715:exon3:c.A371G:p.E124G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0027194368953	0.0032	0.00179712	0.0031	0.0004	0.0030	0	0	0.0045	0.0066	0.0014	0.003053	472	154602	rs138672153	0.0028	0.0028	0.0027	0.0029	0.0057	0.0027	0.0027	0.0042	0.0037	0.0006	0.0030	0.0103	0	7.488e-05	0.0057	0.0030	0.0034	0.0014	0.0025	0.0025	0.0026	0.0025	0.0036	0.0023	0.0022	0.0033	0.0031	0.0008	0	0.0033	0.0089	0	0.0002	0.0034	0.0036	0.0043	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.6	0.53731	T	-2.04	0.46842	N	0.223	0.25006	-1.0631	0.10997	T	0.059	0.24539	T	9	0.004568875	0.00095	T	0.002719	0.05608	T	0.063	0.18251	.	.	0.42748209135	0.42367	.	.	.	.	.	.	.	.	.	.	-0.586269	0.00177	T	-0.615432	0.11547	T	0.0317102496561322	0.02260	T	0.385761	0.09460	T	.	.	.	.	.	.	.	.	-3.563	0.17324	T	.	.	0.225	0.45702	B	.	.	0.957515	0.13337	9.842	0.67631131574267889	0.08412	0.07957	0.13941	N	AEFBI	0.029019	0.02662	N	-0.663294270191957	0.17074	0.8755032	-0.772392631747519	0.15173	0.7966702	0.994599896564934	0.33711	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.421255	0.06892	1	.	.	3.32	2.09	0.26154	1.199000	0.31842	2.939000	0.35656	0.691000	0.84096	0.004000	0.16614	0.057000	0.21958	0.010000	0.09038	0.7621:0.0:0.0:0.2379	5.762	0.17470	721	0.55360	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	443.43	39	chr13	98244690	.	A	G	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.6;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.539;SOR=0.813	GT:AD:DP:GQ:PL	0/1:19,17:36:99:455,0,556	9	0	1	0
chr13	99970463	99970463	C	T	exonic	ZIC5	.	nonsynonymous SNV	ZIC5:NM_033132:exon1:c.G1213A:p.E405K	.	58	1455	9	0	0	9	0.00308325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0011	0.000199681	0.0069	0.0010	0.0011	0.0012	0.0007	0.0098	0.0203	0.0075	0.0012548	194	154602	rs199880269	0.0026	0.0019	0.0027	0.0026	0.0046	0.0025	0.0025	0.0027	0.0026	0.0005	0.0001	0.0009	0.0001	0.0001	0.0046	0.0028	0.0019	0.0030	0.0014	0.0014	0.0016	0.0012	0.0050	0.0013	0.0012	0.0035	0.0030	0.0005	0	0.0003	0.0006	0.0002	0.0001	0	0.0023	0.0005	0.0050	0.059	0.37536	T	0.059	0.45961	T	0.065	0.23521	B	0.007	0.12992	B	.	.	.	.	0.997559	0.22611	N	0.345	0.11182	N	2.77	0.11407	T	-0.84	0.22944	N	0.166	0.17553	-1.0040	0.28755	T	0.023	0.09604	T	9	0.007351905	0.00167	T	.	.	.	0.014	0.01968	.	.	0.117506650769	0.11410	0.38630313081989737	0.38545	.	.	0.841198325157	0.88277	D	0.227547	0.59287	T	-0.652482	0.00070	T	-0.713073	0.05138	T	0.00480463601617185	0.00052	T	0.443356	0.12326	T	0.063514486	0.13382	0.11237098	0.27112	0.063514486	0.13381	0.11237098	0.27111	-10.096	0.74484	D	.	.	0.472	0.63281	A	.	.	1.558618	0.19968	14.52	0.9867283617893492	0.44498	0.41448	0.26659	N	ALL	0.073589	0.14723	N	-1.01974240837694	0.08195	0.3833698	-1.10038441961303	0.07693	0.3752261	0.999999999987698	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	3.33	0.202	0.14468	-0.365000	0.07626	0.021000	0.13590	-0.686000	0.04175	0.000000	0.06391	0.001000	0.17328	0.212000	0.22240	0.0:0.349:0.5367:0.1143	6.883	0.23365	575	0.70088	.	.	.	.	.	.	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	0.002588	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.011538	0.05	150.43	23	chr13	99970463	.	C	T	150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.286;DP=292;ExcessHet=0;FS=5.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.74;SOR=1.492	GT:AD:DP:GQ:PL	0/1:8,7:15:99:162,0,205	9	0	1	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2756.74	201	chr13	112547564	.	G	*	2756.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.59;DP=1056;ExcessHet=0.7463;FS=0.533;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.468;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,79:124:99:.:.:3162,0,347:.	8	0	2	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3640.74	36	chr13	112547565	.	C	*	3640.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=908;ExcessHet=0.7463;FS=0.531;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.243;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,79:124:99:.:.:3162,0,347:.	8	0	2	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1875	429.12	88	chr14	20747837	.	G	A	429.12	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.181;DP=752;ExcessHet=0.7463;FS=409.242;InbreedingCoeff=-0.2855;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-0.009;SOR=9.108	GT:AD:DP:GQ:PL	0/1:58,18:76:29:29,0,1388	5	0	3	2
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/1:100,29:129:43:43,0,2448	3	0	5	2
chr14	39401742	39401742	G	A	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon3:c.C830T:p.A277V	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.245845068192	0.0003	.	0.0003	0.0002	0.0008	0	0	0.0003	0.0022	6.057e-05	0.0002717	42	154602	rs141687934	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0002	0.0008	0	5.038e-05	1.872e-05	0.0045	0.0002	0.0004	0.0004	0.0004	0.0004	0.0002	0.0005	0.0020	0.0003	0.0003	0.0014	0.0012	4.813e-05	0	0.0020	0	0	0	0.0068	0.0003	0	0.0002	0.011	0.55530	D	0.012	0.63918	D	0.787	0.44504	P	0.158	0.34617	B	0.000000	0.84330	D	0.049625	0.999984	0.81001	D	0.895	0.22405	L	5.49	0.00930	T	-0.9	0.24244	N	0.594	0.61341	-0.1690	0.78452	T	0.004	0.01159	T	9	0.16196457	0.30366	T	0.245845	0.88903	D	0.332	0.65424	.	.	0.123314135267	0.11883	0.6114688122011807	0.61078	0.707948958546	0.61520	0.546938180923	0.45425	T	0.06348	0.32186	T	-0.252461	0.13798	T	-0.229334	0.51836	T	0.034579134230063	0.02737	T	0.864413	0.56163	D	0.21543993	0.43977	0.2360266	0.48863	0.21543993	0.43977	0.2360266	0.48862	-6.516	0.50410	T	.	.	0.306	0.53448	B	.	.	3.962609	0.58130	23.9	0.99883531841964257	0.95892	0.96456	0.69229	D	AEFGBI	0.504859	0.53625	D	0.358613442614382	0.59196	4.097018	0.5037687476048	0.68245	5.193303	0.99992118080768	0.46280	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	6.240000	0.72321	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	618	0.66225	.	.	.	.	.	.	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	0.008056	0.025253	0.009511	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1271.43	36	chr14	39401742	.	G	A	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.826;DP=425;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.172;SOR=0.933	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1283,0,1455	9	0	1	0
chr14	49621785	49621785	C	A	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.C517A:p.L173M	Congenital disorder of glycosylation, type IIa, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3278737	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.478	0.0663222795624	0.0002	0.000399361	5.77e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs142040736	2.736e-05	2.736e-05	2.722e-05	2.75e-05	0.0008	2.062e-05	1.816e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0	3.597e-06	9.934e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.74e-05	8.255e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0.0005	0	0.633	0.05106	T	0.652	0.06690	T	0.41	0.35064	B	0.531	0.48577	P	0.000001	0.84330	D	0.000000	0.999949	0.51968	D	1.295	0.32453	L	-2.45	0.88847	D	0.38	0.03579	N	0.539	0.56662	-0.0422	0.81371	T	0.628	0.86939	D	10	0.2184262	0.38483	T	0.066322	0.69841	D	0.478	0.76946	.	.	0.588005003133	0.58475	0.6360869875484785	0.63542	1.1347471356	0.78747	0.682546854019	0.64634	T	0.359326	0.72575	T	-0.153058	0.27834	T	-0.088884	0.64245	T	0.122608928852365	0.14683	T	0.860114	0.55285	D	0.45884305	0.64599	0.21117651	0.45535	0.45884305	0.64599	0.21117651	0.45534	-3.68	0.19023	T	0.19863536447865965	0.26309	0.133	0.28892	B	.	.	2.902470	0.38477	20.7	0.99188502206534312	0.54906	0.97723	0.76668	D	AEFDGBCI	0.777469	0.71027	D	0.254875650269251	0.53881	3.555169	0.398565636895066	0.61476	4.348244	0.999999999999998	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.657601	0.63696	0	.	.	6.0	6.0	0.97371	4.641000	0.61072	2.727000	0.34358	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9279:0.0:0.0721	13.392	0.60272	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4613.43	34	chr14	49621785	.	C	A	4613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.488;DP=717;ExcessHet=0;FS=0.362;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.419;SOR=0.714	GT:AD:DP:GQ:PL	0/1:197,195:392:99:4625,0,4633	9	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:43,18:61:98:98,0,721	3	0	7	0
chr14	58645664	58645664	G	C	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.G930C:p.Q310H,DACT1:NM_016651:exon4:c.G1041C:p.Q347H	.	8	1513	1	0	0	1	0.00033036	.	.	.	714172	Townes-Brocks_syndrome_2|not_provided	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.317	0.0267939509783	0.0028	0.00199681	0.0007	0.0075	0.0004	0	0	0	0	6.061e-05	0.000608	94	154602	rs139223977	0.0002	0.0002	0.0003	0.0002	0.0078	0.0002	0.0002	0.0070	0.0067	0.0078	0.0004	0	0	0	0.0003	3.597e-06	0.0004	3.478e-05	0.0020	0.0020	0.0020	0.0019	0.0069	0.0018	0.0017	0.0062	0.0059	0.0069	0	0.0005	0	0	0	0	1.471e-05	0.0033	0	0.027	0.46513	D	0.041	0.92824	D	0.395	0.34724	B	0.347	0.42698	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.42	0.56937	T	-3.64	0.80767	D	0.538	0.65673	-0.7592	0.57449	T	0.163	0.49963	T	10	0.009681553	0.00218	T	0.026794	0.49675	D	0.317	0.63904	0.227	0.15257	0.616787221087	0.61368	0.631894175769573	0.63123	0.189800492644	0.21301	0.690798044205	0.65821	T	0.054739	0.53036	T	-0.0549057	0.43699	T	0.153905	0.80429	D	0.0648756911808992	0.07912	T	0.719828	0.33277	T	0.44347322	0.63625	0.37201685	0.62419	0.44347322	0.63626	0.37201685	0.62419	-2.906	0.09203	T	.	.	0.746	0.74879	P	.;.;.;.;.	.;.;.;.;.	3.332636	0.45886	22.2	0.99692636657555489	0.80044	0.98706	0.85820	D	AEFDGBI	0.834473	0.75252	D	0.35694248218423	0.59106	4.087478	0.466588767220589	0.65788	4.868404	0.999999999999999	0.74766	0.700653	0.57754	0	0.546412	0.12157	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.46	5.46	0.80021	6.167000	0.71757	7.546000	0.60178	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.292	0.94089	474	0.77851	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1979.43	35	chr14	58645664	.	G	C	1979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=469;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.689;SOR=1.052	GT:AD:DP:GQ:PL	0/1:71,73:144:99:1991,0,1733	9	0	1	0
chr14	59607342	59607342	C	T	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_001363702:exon2:c.G167A:p.R56H,RTN1:NM_206852:exon2:c.G212A:p.R71H,RTN1:NM_021136:exon4:c.G1916A:p.R639H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.0385668975748	.	.	1.665e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs749408245	6.157e-06	6.156e-06	8.167e-06	4.125e-06	0.0001	2.9e-06	2.1e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	8.993e-07	3.311e-05	1.159e-05	3.945e-05	3.941e-05	1.285e-05	6.731e-05	0.0001	1.716e-05	1.13e-05	4.739e-05	3.054e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	0.81	0.48460	T	-4.87	0.81269	D	0.865	0.98368	0.037	0.82990	D	0.446	0.78221	T	10	0.8790791	0.87211	D	0.038567	0.58299	D	0.707	0.89514	0.763	0.89133	0.481781477641	0.47810	0.7742163847602792	0.77371	1.94283100261	0.93250	0.893649935722	0.95707	D	0.35488	0.72197	T	0.150727	0.69337	D	0.215401	0.83941	D	0.999335587024689	0.97004	D	0.997706	0.99060	D	0.7168484	0.78987	0.689439	0.81729	0.7168484	0.78988	0.689439	0.81730	-11.752	0.86726	D	.	.	0.748	0.85290	P	.;.;.;.	.;.;.;.	6.112583	0.94590	34	0.99961413814645728	0.99998	0.98576	0.84281	D	AEFGBI	0.958471	0.97828	D	1.04880302788611	0.97061	15.53185	0.994003373655171	0.98509	18.47959	0.99999999996805	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	7.905000	0.86479	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.478	0.99191	703	0.57489	Reticulon|Reticulon;.;Reticulon|Reticulon;Reticulon|Reticulon	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	836.43	35	chr14	59607342	.	C	T	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=391;ExcessHet=0;FS=7.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.742;SOR=1.117	GT:AD:DP:GQ:PL	0/1:44,36:80:99:848,0,914	9	0	1	0
chr14	60723844	60723844	-	GCC	exonic	SIX4	.	nonframeshift insertion	SIX4:NM_017420:exon1:c.230_231insGGC:p.A77_G78insA	.	398	1122	1	1	0	3	0.00133511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	.	0.0032	0.0482	0	0	0	0.0007	0	0	0.0003074	8	26028	rs774188500	0.0008	0.0008	0.0008	0.0007	0.0231	0.0007	0.0007	0.0217	0.0211	0.0231	0.0012	4.283e-05	5.49e-05	2.814e-05	0.0028	0.0002	0.0017	5.164e-05	0.0070	0.0070	0.0075	0.0065	0.0236	0.0066	0.0065	0.0224	0.0219	0.0236	0	0.0027	0	0	0	0.0103	0.0003	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	284.39	34	chr14	60723844	.	G	GGCC	284.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=417;ExcessHet=0;FS=7.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.852;SOR=2.584	GT:AD:DP:GQ:PL	0/1:13,8:21:99:296,0,522	9	0	1	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	147.14	48	chr14	63599585	.	T	G	147.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.991;DP=620;ExcessHet=0.2348;FS=10.436;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.72;MQRankSum=-8.906;QD=0.48;ReadPosRankSum=-1.034;SOR=1.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,11:152:37:0|1:63599584_C_T:37,0,5850:63599584	8	0	2	0
chr14	64021350	64021350	T	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon36:c.T5187A:p.H1729Q,SYNE2:NM_182914:exon36:c.T5187A:p.H1729Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	329714	not_provided|not_specified|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0095	0.00858626	0.0027	0.0304	0.0016	0	0	9.003e-05	0.0011	6.062e-05	0.0025744	398	154602	rs116597541	0.0008	0.0008	0.0009	0.0007	0.0277	0.0008	0.0008	0.0262	0.0256	0.0277	0.0015	0	0	0	0.0021	7.914e-05	0.0016	6.956e-05	0.0084	0.0084	0.0088	0.0079	0.0289	0.0080	0.0078	0.0275	0.0270	0.0289	0	0.0027	0	0	0	0.0238	0.0001	0.0062	0.0004	0.188	0.21304	T	0.466	0.12421	T	0.001	0.07471	B	0.001	0.04355	B	0.173541	0.03129	N	1.669250	1	0.08975	N	0.55	0.14455	N	0.84	0.55945	T	-3.06	0.64826	D	0.126	0.25989	-1.0572	0.12465	T	0.017	0.07092	T	10	0.0020218194	0.00028	T	.	.	.	0.035	0.08770	0.302	0.27003	0.152612264143	0.14878	0.07006278187069753	0.06943	0.0485055709482	0.05301	0.300116181374	0.10417	T	0.058514	0.59297	T	-0.65801	0.00065	T	-0.694965	0.06105	T	0.00391938009625215	0.00042	T	0.482752	0.14626	T	0.08923131	0.20843	0.15266049	0.35906	0.12264704	0.28817	0.13778064	0.32922	-1.935	0.02945	T	.	.	0.086	0.10545	B	.;.;.;.	.;.;.;.	-1.295252	0.00442	0.009	0.6646341437589095	0.08066	0.01701	0.05409	N	AEFDGBI	0.026842	0.02085	N	-1.62737622650779	0.01134	0.04925509	-1.6043881631377	0.01629	0.07391312	0.545681046523945	0.21291	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	-6.48	0.01726	-1.370000	0.02682	-5.172000	0.01820	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.874000	0.41677	0.4822:0.3305:0.0:0.1872	5.999	0.18738	690	0.58899	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1241.43	34	chr14	64021350	.	T	A	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=428;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.216;SOR=0.49	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1253,0,1540	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,18:108:99:0|1:64158707_T_C:104,0,2718:64158707	0	0	8	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1706.15	87	chr14	64158708	.	G	A	1706.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.709;DP=980;ExcessHet=2.8389;FS=221.069;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.08;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,18:108:99:0|1:64158707_T_C:104,0,2718:64158707	5	0	5	0
chr14	64487702	64487702	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G529A:p.D177N,ZBTB25:NM_006977:exon3:c.G529A:p.D177N,ZBTB25:NM_001354682:exon4:c.G646A:p.D216N,ZBTB25:NM_001354684:exon4:c.G529A:p.D177N,ZBTB25:NM_001354687:exon4:c.G529A:p.D177N,ZBTB25:NM_001354685:exon5:c.G529A:p.D177N,ZBTB25:NM_001304507:exon6:c.G529A:p.D177N,ZBTB25:NM_001354686:exon6:c.G529A:p.D177N	.	0	225	1	0	0	1	0.00221729	.	.	.	3215153	ZBTB25-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.245	0.0286523896529	0.0039	0.00219649	0.0030	0.0013	0.0092	0	0.0023	0.0034	0.0045	0	0.0030659	474	154602	rs142592421	0.0036	0.0036	0.0037	0.0035	0.0082	0.0035	0.0035	0.0075	0.0073	0.0005	0.0082	0.0038	0	0.0014	0.0016	0.0040	0.0045	2.325e-05	0.0034	0.0034	0.0034	0.0034	0.0109	0.0032	0.0031	0.0096	0.0091	0.0007	0.0011	0.0109	0.0052	0	0.0031	0	0.0037	0.0099	0	0.256	0.16793	T	0.457	0.12704	T	0.998	0.73220	D	0.82	0.59072	P	0.000000	0.84330	D	0.091907	0.999997	0.81001	D	2.045	0.56016	M	1.97	0.22067	T	-0.55	0.16799	N	0.349	0.43514	-1.1614	0.00723	T	0.055	0.23186	T	10	0.0055839717	0.00123	T	0.028652	0.51291	D	0.245	0.55201	.	.	0.314417295294	0.31040	0.24073946819514866	0.23987	0.357954956601	0.37510	0.560948193073	0.47402	T	0.019095	0.15273	T	-0.567404	0.00229	T	-0.583247	0.14255	T	0.0235499330906452	0.01090	T	0.90061	0.65471	D	0.09053666	0.21188	0.13768555	0.32904	0.09053666	0.21188	0.13768555	0.32903	-3.254	0.13151	T	.	.	0.152	0.33573	B	.;.	.;.	4.542903	0.71428	25.7	0.99839554239717465	0.92057	0.98901	0.88375	D	AEFGBHI	.	.	.	0.49599608374579	0.66854	5.004568	0.573682180059034	0.73060	5.908913	0.999999999999911	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	6.04	6.04	0.98025	5.559000	0.67030	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.579	0.99382	371	0.84287	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1789.43	33	chr14	64487702	.	C	T	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.907;DP=427;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.51;SOR=0.569	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1801,0,1357	9	0	1	0
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	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	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05	693.43	34	chr14	67783430	.	C	T	693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=409;ExcessHet=0;FS=6.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.061;SOR=0.26	GT:AD:DP:GQ:PL	0/1:40,29:69:99:705,0,951	9	0	1	0
chr14	70168056	70168056	T	C	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_033262:exon2:c.A367G:p.T123A,SLC8A3:NM_058240:exon2:c.A367G:p.T123A,SLC8A3:NM_182932:exon2:c.A367G:p.T123A,SLC8A3:NM_183002:exon2:c.A367G:p.T123A	.	433	1082	7	0	0	7	0.00322432	.	.	.	3922076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.00713236161356	.	0.000199681	4.945e-05	0	0	0	0	4.497e-05	0	0.0002	4.53e-05	7	154602	rs531333275	2.531e-05	2.531e-05	1.906e-05	3.163e-05	0.0007	1.868e-05	1.631e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.259e-05	0.0001	0.0001	1.313e-05	1.312e-05	0	2.685e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.088	0.32769	T	0.46	0.13557	T	0.332	0.34453	B	0.279	0.44513	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	1.3	0.36872	T	-1.29	0.32387	N	0.744	0.74553	-0.8709	0.50462	T	0.188	0.53886	T	10	0.364243	0.52974	T	0.007132	0.18896	T	0.216	0.50959	0.379	0.39482	0.490693190711	0.48701	0.8238486526956952	0.82341	0.166389379044	0.18776	0.70034635067	0.67193	T	0.242924	0.61176	T	-0.0663841	0.41903	T	-0.0964641	0.63670	T	0.273327678442001	0.23889	T	0.79822	0.44280	T	0.18192248	0.39385	0.21921542	0.46653	0.18192248	0.39385	0.21921542	0.46652	-8.244	0.62720	D	.	.	0.138	0.32493	B	.;.;.;.;.	.;.;.;.;.	4.504384	0.70476	25.5	0.99053506747412612	0.51321	0.97706	0.76549	D	AEFGBI	0.917962	0.88634	D	0.483745724333648	0.66142	4.91184	0.525875986342814	0.69737	5.403258	0.999986756192924	0.51787	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	8.011000	0.88184	7.950000	0.75812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.798	0.69520	665	0.61472	.;Sodium/calcium exchanger membrane region;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1135.43	37	chr14	70168056	.	T	C	1135.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.272;DP=732;ExcessHet=0;FS=4.476;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.375;SOR=0.618	GT:AD:DP:GQ:PL	0/1:74,49:123:99:1147,0,1929	9	0	1	0
chr14	73491343	73491343	C	T	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.C326T:p.S109L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0009	0.0179	0	0	0	0.0022	0	0	0.0020892	323	154602	rs562155926	0.0008	0.0008	0.0008	0.0008	0.0045	0.0007	0.0007	0.0039	0.0036	0.0045	0.0028	9.317e-05	0	5.218e-05	0.0039	0.0007	0.0014	6.091e-05	0.0016	0.0016	0.0015	0.0017	0.0035	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0035	0	0	9.504e-05	0.0034	0.0006	0.0043	0.0002	.	.	.	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	0.003747791	0.00070	T	.	.	.	.	.	.	.	0.389439708392	0.38560	0.15953893530018226	0.15874	.	.	.	.	.	0.013756	0.11837	T	-0.323534	0.06612	T	-0.240561	0.50743	T	.	.	.	0.672333	0.28093	T	0.13165571	0.30681	0.268791	0.52752	0.13165571	0.30681	0.268791	0.52751	-3.246	0.13051	T	.	.	0.136	0.29505	B	.	.	3.349192	0.46190	22.3	0.98162205726733787	0.38781	0.26621	0.23045	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999992704	0.74766	0.075627	0.01787	0	0.090139	0.02499	0	0.04985	0.00251	1	0.088244	0.02422	0	0.407902	0.37815	3.77	2.89	0.32713	1.885000	0.39312	2.122000	0.30726	0.466000	0.21733	0.565000	0.27465	0.152000	0.23188	0.737000	0.35335	0.0:0.8803:0.0:0.1197	7.205	0.25078	306	0.87689	.	.	.	.	.	.	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	0.010369	0.063218	0.008532	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	449.43	43	chr14	73491343	.	C	T	449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=355;ExcessHet=0;FS=8.051;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.366;SOR=2.252	GT:AD:DP:GQ:PL	0/1:20,16:36:99:461,0,496	9	0	1	0
chr14	73491399	73491399	C	A	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.C382A:p.P128T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324517781	1.674e-06	6.86e-06	1.625e-06	1.726e-06	4.268e-05	2.8e-07	1e-07	.	.	4.268e-05	0	0	0	0	0	0	2.032e-05	0	0	6.569e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.017	0.60337	D	0.028	0.19712	B	0.004	0.10090	B	.	.	.	.	0.996497	0.22997	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.043203384	0.03145	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.257737620645623	0.25687	.	.	.	.	.	0.015875	0.13230	T	-0.345696	0.05003	T	-0.734345	0.04133	T	.	.	.	0.514049	0.16524	T	0.03857285	0.05163	0.07046	0.14972	0.03857285	0.05163	0.07046	0.14972	-3.018	0.10376	T	.	.	0.073	0.04558	B	.	.	1.359083	0.17679	13.30	0.5716900702589145	0.05710	0.10906	0.16274	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999117997	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.088244	0.02422	0	0.134423	0.26205	1.97	1.97	0.25278	0.807000	0.26800	0.447000	0.18483	0.401000	0.20554	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	7.479	0.26562	306	0.87689	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	468.43	35	chr14	73491399	.	C	A	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.732;DP=329;ExcessHet=0;FS=10.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.5;SOR=1.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,13:33:99:0|1:73491397_C_T:480,0,801:73491397	9	0	1	0
chr14	73514100	73514100	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon5:c.G1345A:p.E449K,HEATR4:NM_001220484:exon6:c.G1345A:p.E449K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00524578738904	0.0002	0.000399361	0.0002	9.61e-05	0.0002	0	0	0.0002	0.0022	0.0005	0.0001876	29	154602	rs138823359	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0046	0.0041	0	0.0003	0.0008	0	0	0.0062	0.0001	0.0005	0.0004	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0014	0.0008	0.132	0.26519	T	0.061	0.45530	T	0.11	0.26188	B	0.024	0.20255	B	0.071082	0.21496	N	0.439598	1	0.08975	N	1.975	0.53506	M	1.82	0.25018	T	-0.87	0.23590	N	0.177	0.19055	-1.0369	0.18264	T	0.040	0.17020	T	10	0.023305357	0.00606	T	0.005246	0.13371	T	0.067	0.19503	.	.	0.0401082797425	0.02173	0.4912028566193218	0.49041	0.133712803413	0.15057	0.351421028376	0.18131	T	0.010591	0.09546	T	-0.472828	0.00816	T	-0.57423	0.15064	T	0.0199229771252514	0.00693	T	0.715328	0.32778	T	0.09643127	0.22714	0.076081425	0.16814	0.09643127	0.22714	0.076081425	0.16814	-2.658	0.06957	T	.	.	0.111	0.23077	B	.;.	.;.	1.238026	0.16335	12.47	0.97639163413217311	0.35068	0.06721	0.12742	N	AEFGI	0.061298	0.11708	N	-0.737560374931955	0.14973	0.7505426	-0.730327389583934	0.16207	0.8562703	0.106292926749588	0.16525	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.78	3.96	0.45097	0.462000	0.21667	1.783000	0.28733	0.599000	0.40250	0.000000	0.06391	0.613000	0.25778	0.002000	0.04165	0.1519:0.6894:0.0:0.1587	5.983	0.18650	277	0.89083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.014620	0.050000	0.000000	0.000000	0.000000	0.05	1580.43	33	chr14	73514100	.	C	T	1580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.235;DP=443;ExcessHet=0;FS=5.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.563;SOR=0.683	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1592,0,1404	9	0	1	0
chr14	75017201	75017201	-	CTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	exonic	MLH3	.	stopgain	MLH3:NM_014381:exon12:c.4170_4171insTCATATTGCTAATTGAAGTTATTCTTTCTTCCCATAG:p.I1391Sfs*4,MLH3:NM_001040108:exon13:c.4242_4243insTCATATTGCTAATTGAAGTTATTCTTTCTTCCCATAG:p.I1415Sfs*4	Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	241876	Colorectal_cancer,_hereditary_nonpolyposis,_type_7|not_specified	MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0016	0.0174	0.0007	0	0	1.499e-05	0	0	0.0002305	6	26028	rs56393982	0.0005	0.0005	0.0005	0.0004	0.0165	0.0004	0.0004	0.0154	0.0149	0.0165	0.0010	0	0	0	0.0005	7.196e-06	0.0012	4.638e-05	0.0056	0.0059	0.0060	0.0052	0.0198	0.0053	0.0052	0.0187	0.0182	0.0198	0	0.0016	0	0	0	0	4.41e-05	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	283.39	33	chr14	75017201	.	T	TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	283.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.109;DP=376;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.933;SOR=2.636	GT:AD:DP:GQ:PL	0/1:12,8:20:99:295,0,476	9	0	1	0
chr14	76803460	76803460	T	C	exonic	ANGEL1	.	nonsynonymous SNV	ANGEL1:NM_001370748:exon7:c.A1529G:p.D510G,ANGEL1:NM_015305:exon7:c.A1529G:p.D510G,ANGEL1:NM_001370746:exon9:c.A1688G:p.D563G,ANGEL1:NM_001370747:exon9:c.A1688G:p.D563G	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	.	0.0073	0.00439297	0.0017	0.0188	0.0009	0	0	1.499e-05	0.0011	0	0.0015912	246	154602	rs112793085	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0009	0	0	0	0.0003	1.169e-05	0.0012	6.956e-05	0.0059	0.0060	0.0062	0.0057	0.0211	0.0056	0.0055	0.0199	0.0194	0.0211	0	0.0013	0	0	0	0	4.41e-05	0.0028	0.0002	0.006	0.63226	D	0.061	0.50514	T	0.719	0.42322	P	0.294	0.40804	B	0.000000	0.84330	D	0.000000	0.999854	0.49910	D	1.895	0.50365	L	-1.51	0.81399	D	-1.96	0.51478	N	0.539	0.72746	-0.5470	0.66900	T	0.158	0.49076	T	10	0.008945912	0.00202	T	.	.	.	0.493	0.77910	.	.	0.906922225453	0.90599	0.773064602979837	0.77256	0.42068741533	0.42591	0.3709679842	0.20970	T	0.126254	0.45250	T	-0.309551	0.07788	T	-0.201168	0.54535	T	0.046598222254182	0.04893	T	0.786321	0.54393	T	0.34981063	0.57053	0.29543465	0.55575	0.34981063	0.57053	0.29543465	0.55574	-2.628	0.06719	T	.	.	0.190	0.40889	B	.;.	.;.	3.932448	0.57488	23.9	0.99705166153517633	0.80936	0.98394	0.82329	D	AEFBI	0.629500	0.61119	D	0.329098334574859	0.57647	3.932871	0.446483117210351	0.64492	4.705555	0.999977739423638	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.549000	0.66968	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.148:0.852	11.632	0.50440	938	0.14419	Endonuclease/exonuclease/phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	803.43	35	chr14	76803460	.	T	C	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=390;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.713;SOR=0.428	GT:AD:DP:GQ:PL	0/1:41,34:75:99:815,0,1046	9	0	1	0
chr14	76804970	76804973	ATTG	-	exonic	ANGEL1	.	frameshift deletion	ANGEL1:NM_001370746:exon6:c.1410_1413del:p.C470Wfs*25,ANGEL1:NM_001370747:exon6:c.1410_1413del:p.C470Wfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs200790055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0053	0.0057	0.0050	0.0189	0.0050	0.0049	0.0178	0.0174	0.0189	0	0.0013	0	0	0	0	0	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	121.17	.	chr14	76804969	.	CATTG	C	121.17	.	AC=2;AF=0.167;AN=12;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.22;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	5	1	0	4
chr14	76804971	76804971	T	0	exonic	ANGEL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	74.01	.	chr14	76804971	.	T	*	74.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.967;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3:3:9:.:.:135,9,0:.	5	1	0	4
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:8,9:17:99:333,0,298	0	2	7	1
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:80,40:120:82:82,0,1157	3	0	7	0
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T,DGLUCY:NM_001286471:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358310:exon11:c.G1357A:p.A453T,DGLUCY:NM_001358311:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358312:exon11:c.G1357A:p.A453T,DGLUCY:NM_024952:exon11:c.G1342A:p.A448T,DGLUCY:NM_001102367:exon12:c.G1342A:p.A448T,DGLUCY:NM_001102366:exon13:c.G1342A:p.A448T,DGLUCY:NM_001102369:exon13:c.G1306A:p.A436T,DGLUCY:NM_001286472:exon13:c.G1357A:p.A453T,DGLUCY:NM_001286470:exon14:c.G1357A:p.A453T	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1468.43	36	chr14	91199818	.	G	A	1468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.667;DP=435;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.657;SOR=0.582	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1480,0,1467	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,43:116:99:.:.:460,0,1406:.	0	0	10	0
chr14	99174861	99174861	C	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282238:exon3:c.G1759A:p.A587T,BCL11B:NM_022898:exon3:c.G1762A:p.A588T,BCL11B:NM_001282237:exon4:c.G1972A:p.A658T,BCL11B:NM_138576:exon4:c.G1975A:p.A659T	.	.	.	.	.	.	.	.	.	.	.	1596097	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.059654329093	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs759392301	6.245e-05	5.336e-05	5.927e-05	6.599e-05	0.0027	5.036e-05	4.593e-05	0.0021	0.0019	0.0027	0.0001	0	0	0	0	2.211e-06	0.0001	4.371e-05	0.0001	0.0001	0.0001	0.0002	0.0005	9.534e-05	7.946e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.016	0.53900	D	0.223	0.25670	T	0.848	0.46844	P	0.207	0.37187	B	0.767122	0.06575	N	1.139830	0.633085	0.34369	D	0.345	0.11182	N	2.91	0.10386	T	-0.8	0.22078	N	0.111	0.29889	-0.9079	0.47109	T	0.018	0.07659	T	10	0.17571843	0.32518	T	0.059654	0.67737	D	0.098	0.28162	0.322	0.30226	0.406687239423	0.40287	0.23851522579277298	0.23765	2.0033223038	0.93854	0.842996001244	0.88551	D	0.218924	0.58178	T	-0.529323	0.00388	T	-0.638428	0.09784	T	0.672470172527347	0.39448	D	0.877212	0.59013	D	0.22206113	0.44797	0.19547127	0.43226	0.22206113	0.44797	0.19547127	0.43225	-4.818	0.34800	T	.	.	0.086	0.18991	B	.;.;.	.;.;.	4.085921	0.60819	24.3	0.99012885666492356	0.50399	0.93898	0.59511	D	AEFDHCI	0.683353	0.64606	D	0.0605071341002535	0.44628	2.733313	0.163965120153051	0.47887	3.012242	0.99999997435875	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	3.79	3.79	0.42757	4.975000	0.63494	2.020000	0.30204	0.498000	0.22619	1.000000	0.71638	0.886000	0.27767	0.962000	0.52141	0.0:1.0:0.0:0.0	16.008	0.80174	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	116.45	23	chr14	99174861	.	C	T	116.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=162;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.114;SOR=0.269	GT:AD:DP:GQ:PL	0/1:9,5:14:99:128,0,244	9	0	1	0
chr14	99517165	99517165	G	C	exonic	CCDC85C	.	nonsynonymous SNV	CCDC85C:NM_001144995:exon4:c.C994G:p.P332A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0105401181414	.	0.00119808	0.0001	0.0015	0	0	0	0	0	0	5.17e-05	8	154602	rs142316560	5.443e-05	5.199e-05	4.804e-05	6.099e-05	0.0016	4.458e-05	4.07e-05	0.0012	0.0011	0.0016	2.814e-05	0	0	0	0.0002	9.277e-06	0.0002	2.531e-05	0.0001	0.0001	0.0001	8.06e-05	0.0004	6.509e-05	5.321e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0	0	0.472	0.25457	T	0.417	0.15602	T	0.005	0.12996	B	0.004	0.10090	B	0.777015	0.09501	U	0.853776	1	0.81001	D	0.835	0.21042	L	.	.	.	-1.6	0.79399	N	0.201	0.22228	-1.0876	0.05943	T	0.046	0.19720	T	9	0.011399537	0.00249	T	0.01054	0.27195	T	0.136	0.36778	.	.	0.0401082797425	0.02173	0.2537057096333867	0.25284	.	.	0.461475104094	0.33512	T	0.004632	0.36945	T	-0.421038	0.01684	T	-0.456829	0.26945	T	0.0072513059443961	0.00083	T	0.480552	0.16985	T	0.04829186	0.08393	0.058163404	0.10699	0.04829186	0.08392	0.058163404	0.10698	-3.767	0.20312	T	.	.	0.050	0.00264	B	.;.;.	.;.;.	1.687842	0.21508	15.23	0.69095217427501854	0.08863	0.52676	0.29189	D	AEFDGBHCI	0.109426	0.21735	N	-0.766122471068547	0.14199	0.7053942	-0.622856841967127	0.18907	1.012086	0.999999382921946	0.74766	0.631981	0.41245	0	0.550933	0.16991	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.35	3.43	0.38372	1.286000	0.32877	1.482000	0.26828	-0.192000	0.09343	0.866000	0.30720	0.911000	0.28135	0.058000	0.15825	0.0:0.1967:0.8033:0.0	13.865	0.63085	980	0.04108	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	604.43	35	chr14	99517165	.	G	C	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-2.235;SOR=0.579	GT:AD:DP:GQ:PL	0/1:35,25:60:99:616,0,853	9	0	1	0
chr14	100329038	100329038	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon5:c.C202T:p.R68W,SLC25A47:NM_207117:exon5:c.C640T:p.R214W	.	422	1092	8	0	0	8	0.00364964	.	.	.	2807242	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.292	.	0.0033	0.00279553	0.0045	0.0006	0.0013	0.0004	0.0169	0.0053	0.0048	0.0032	0.0040814	631	154602	rs149283899	0.0045	0.0046	0.0044	0.0046	0.0089	0.0044	0.0044	0.0069	0.0062	0.0006	0.0017	0.0018	0.0003	0.0153	0.0089	0.0046	0.0039	0.0040	0.0038	0.0038	0.0032	0.0044	0.0045	0.0035	0.0034	0.0041	0.0039	0.0008	0	0.0014	0.0014	0.0002	0.0167	0.0102	0.0045	0.0033	0.0031	0.014	0.53172	D	0.015	0.61642	D	0.99	0.63424	D	0.659	0.52771	P	0.209982	0.16389	N	0.655295	0.999609	0.21886	N	2.14	0.59869	M	-1.21	0.78645	T	-2.87	0.60348	D	0.214	0.24010	-0.6530	0.62583	T	0.275	0.64722	T	10	0.008070886	0.00183	T	.	.	.	0.292	0.61157	.	.	0.713213672773	0.71070	0.5117693319778596	0.51098	0.625602768882	0.56732	0.264423131943	0.05429	T	0.041428	0.25853	T	-0.339582	0.05417	T	-0.259058	0.48918	T	0.0271329905904209	0.01563	T	0.719828	0.33277	T	0.24349463	0.47289	0.24505222	0.49984	0.24349463	0.47289	0.24505222	0.49983	-7.055	0.54435	T	.	.	0.093	0.22318	B	.;.	.;.	4.469724	0.69640	25.4	0.99908386432620599	0.97875	0.69346	0.34152	D	AEFDBHCI	0.938240	0.93715	D	0.0924172043808188	0.46109	2.856489	0.0618605294313406	0.42649	2.583331	0.999999949913218	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	3.93	0.44666	1.701000	0.37444	1.669000	0.27944	0.549000	0.26987	0.958000	0.33488	0.238000	0.23831	0.032000	0.13371	0.2556:0.7444:0.0:0.0	12.511	0.55351	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.008152	0.014706	0.000000	0.008621	0.000000	0.003788	0.05	977.43	37	chr14	100329038	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=1.33;SOR=0.689	GT:AD:DP:GQ:PL	0/1:75,46:121:99:989,0,1686	9	0	1	0
chr14	102425158	102425158	G	A	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon6:c.G818A:p.R273H,TECPR2:NM_014844:exon6:c.G818A:p.R273H	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	433	1082	5	0	2	7	0.00230521	.	.	.	957149	not_provided|Hereditary_spastic_paraplegia_49|Hereditary_spastic_paraplegia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014016,MedGen:C3542549,OMIM:615031,Orphanet:320385|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0292805567542	0.0002	0.000199681	0.0001	0	0.0007	0	0	0.0001	0	0	0.0001488	23	154602	rs144069125	0.0001	0.0001	0.0001	0.0001	0.0045	0.0001	9.7e-05	0.0032	0.0027	0	0.0004	0	0	0	0.0045	8.723e-05	0.0003	0.0001	0.0001	0.0001	0.0001	9.406e-05	0.0004	7.578e-05	6.282e-05	0.0001	8.289e-05	2.409e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0004	0.043	0.61437	D	0.112	0.37310	T	0.984	0.60733	D	0.651	0.52497	P	0.000001	0.62929	D	0.100359	0.99643	0.43202	D	2.52	0.73523	M	1.81	0.25182	T	-2.58	0.57762	D	0.547	0.59053	-0.9893	0.32778	T	0.122	0.42251	T	10	0.17143491	0.31862	T	0.029281	0.51816	D	0.191	0.46948	.	.	0.117191471859	0.11215	0.44782650799093193	0.44700	0.446009560045	0.44480	0.514968752861	0.40918	T	0.03422	0.23234	T	-0.246714	0.14506	T	-0.290442	0.45727	T	0.156303292988129	0.17594	T	0.913509	0.69206	D	0.19741964	0.41606	0.15997656	0.37283	0.19741964	0.41606	0.15997656	0.37283	-5.555	0.42379	T	.	.	0.135	0.29394	B	.;.	.;.	5.180758	0.86860	29.0	0.9986930694777858	0.94726	0.97829	0.77440	D	AEFBI	0.747166	0.68931	D	0.360124175509674	0.59275	4.105726	0.279366989539054	0.54337	3.598917	0.999748169563701	0.42466	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.27	5.27	0.73797	8.383000	0.90045	11.703000	0.94531	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	18.939	0.92571	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1798.43	34	chr14	102425158	.	G	A	1798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=420;ExcessHet=0;FS=2.542;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.29;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,74:113:99:1810,0,797	9	0	1	0
chr14	104941264	104941264	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A13887G:p.I4629M,AHNAK2:NM_138420:exon7:c.A14187G:p.I4729M	.	428	1066	28	0	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0005	0.00259585	0.0027	0.0001	0.0010	0	0	0.0004	0.0089	0.0166	0.0022121	342	154602	rs182857858	0.0014	0.0014	0.0009	0.0020	0.0167	0.0014	0.0014	0.0160	0.0157	0.0001	0.0004	3.826e-05	0	0	0.0075	0.0004	0.0013	0.0167	0.0008	0.0008	0.0007	0.0010	0.0149	0.0007	0.0007	0.0121	0.0111	0.0002	0	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0149	0.132	0.26519	T	0.02	0.58613	D	0.145	0.27759	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.05918	T	-1.08	0.28084	N	0.107	0.09207	-0.9623	0.38742	T	0.007	0.02478	T	9	0.0034912825	0.00062	T	.	.	.	0.070	0.20419	.	.	0.0138822411134	0.00435	0.015849689489337817	0.01540	.	.	0.252390891314	0.04023	T	0.024125	0.18290	T	-0.726243	0.00025	T	-0.802348	0.01844	T	0.00760406410384063	0.00088	T	0.222078	0.02867	T	0.079244554	0.18093	0.053880945	0.09161	0.079244554	0.18093	0.053880945	0.09161	-3.301	0.13750	T	.	.	0.080	0.07985	B	.	.	-0.033768	0.04055	0.940	0.95836662611001833	0.27952	0.00239	0.01331	N	AEFGBI	.	.	.	-1.4926381712014	0.01901	0.08343875	-1.62574634165268	0.01506	0.06819093	0.999216844484621	0.38775	0.67177	0.52595	0	0.588066	0.40923	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.15	-4.31	0.03443	-3.192000	0.00623	-1.085000	0.06377	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1482:0.211:0.2743	0.253	0.00193	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.011364	0.05	1756.43	140	chr14	104941264	.	T	C	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=1230;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.652;SOR=0.616	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1768,0,1913	9	0	1	0
chr14	104947006	104947006	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8145T:p.M2715I,AHNAK2:NM_138420:exon7:c.G8445T:p.M2815I	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00881755386826	.	.	6.628e-05	0.0002	0.0002	0	0	0	0	0.0002	5.17e-05	8	154602	rs774485760	1.847e-05	3.831e-05	1.362e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	8.887e-05	7.055e-05	0.0001	0.0001	0	0	0	0	3.598e-06	0	0.0002	0.0002	0.0003	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.578e-05	0	0.0002	0	0	0	0	0	0.052	0.39097	T	0.104	0.38160	T	0.041	0.21357	B	0.03	0.21741	B	.	.	.	.	1	0.81001	D	1.675	0.43121	L	5.03	0.01287	T	-2.19	0.49352	N	0.19	0.20793	-0.9757	0.35970	T	0.009	0.03315	T	9	0.04191628	0.02891	T	0.008818	0.23269	T	0.108	0.30607	0.261	0.20473	0.0297737177859	0.01360	0.01026576912205221	0.00988	.	.	0.309450119734	0.11825	T	0.037635	0.24548	T	-0.444337	0.01219	T	-0.575712	0.14929	T	0.0138714310120336	0.00264	T	0.69513	0.30474	T	0.26357573	0.49422	0.30433756	0.56462	0.26357573	0.49422	0.30433756	0.56461	-8.443	0.64051	D	.	.	0.555	0.67013	A	.	.	0.994139	0.13720	10.26	0.77925112026147803	0.12081	0.25582	0.22742	N	AEFBI	.	.	.	-0.811520737902573	0.13015	0.6383002	-0.841241614043072	0.13498	0.700534	0.00322649174223817	0.10001	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	2.53	0.29594	0.864000	0.27581	-0.855000	0.07163	-0.240000	0.07525	0.590000	0.27666	0.000000	0.08366	0.219000	0.22435	0.0:0.899:0.0:0.101	10.419	0.43525	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1655.43	260	chr14	104947006	.	C	A	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=2271;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.41;MQRankSum=-8.086;QD=5.34;ReadPosRankSum=-5.025;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,60:310:99:0|1:104947006_C_A:1667,0,10141:104947006	9	0	1	0
chr14	104947016	104947016	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8135G:p.K2712R,AHNAK2:NM_138420:exon7:c.A8435G:p.K2812R	.	411	1107	3	0	1	4	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00239617	0.0007	0.0001	8.642e-05	0.0088	0	1.499e-05	0	0.0002	0.0006598	102	154602	rs149610538	0.0003	0.0004	0.0003	0.0003	0.0104	0.0003	0.0003	0.0095	0.0092	8.985e-05	8.951e-05	0	0.0104	0	0	6.296e-06	0.0003	0.0004	0.0005	0.0007	0.0004	0.0006	0.0094	0.0004	0.0004	0.0072	0.0065	0.0004	0	0.0003	0	0.0094	0	0	2.954e-05	0.0005	0.0011	0.105	0.29823	T	0.426	0.13872	T	0.987	0.61912	D	0.817	0.58928	P	.	.	.	.	1	0.81001	D	2.125	0.59049	M	5.58	0.00843	T	-1.72	0.40850	N	0.088	0.06587	-1.0226	0.22866	T	0.013	0.05321	T	9	0.004372418	0.00089	T	.	.	.	0.111	0.31313	0.235	0.16457	0.104622674875	0.10061	0.006351958501373234	0.00603	.	.	0.276062637568	0.06949	T	0.019789	0.15700	T	-0.61339	0.00121	T	-0.643481	0.09418	T	0.0894569752209701	0.11152	T	0.646635	0.25786	T	0.03782888	0.04923	0.05987538	0.11311	0.03782888	0.04922	0.05987538	0.11311	-8.338	0.63351	D	.	.	0.108	0.20313	B	.	.	2.823789	0.37210	20.4	0.99681159396442842	0.79241	0.86506	0.45800	D	AEFBI	.	.	.	0.302055067384919	0.56254	3.789828	0.130781691939143	0.46132	2.864205	0.0110652393634915	0.12125	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.24	3.24	0.36257	2.553000	0.45498	0.351000	0.17477	0.603000	0.45986	0.782000	0.29497	0.000000	0.08366	0.220000	0.22462	0.0:0.113:0.0:0.887	7.312	0.25651	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1365.43	260	chr14	104947016	.	T	C	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=2258;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=-8.742;QD=4.57;ReadPosRankSum=-5.674;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,51:299:99:0|1:104947006_C_A:1377,0,10097:104947006	9	0	1	0
chr14	104947029	104947029	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8122A:p.A2708T,AHNAK2:NM_138420:exon7:c.G8422A:p.A2808T	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0021465285224	.	.	1.657e-05	0.0001	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs753557348	4.106e-06	3.352e-05	2.723e-06	5.502e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	0	4.972e-05	2.319e-05	3.975e-05	0.0002	3.887e-05	4.067e-05	0.0001	1.727e-05	1.137e-05	6.362e-05	4.351e-05	0.0001	0	0	0	0	0	0	0	0	0	0.211	0.19569	T	0.398	0.15109	T	0.02	0.18235	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.065	0.04868	N	5.56	0.00864	T	-1.47	0.35991	N	0.031	0.00770	-0.9268	0.44602	T	0.002	0.00646	T	9	0.04058653	0.02641	T	0.002147	0.04016	T	0.017	0.02790	0.182	0.09004	0.0138822411134	0.00435	0.004271582096035724	0.00401	.	.	0.217992335558	0.01197	T	0.023885	0.18153	T	-0.407082	0.02079	T	-0.822522	0.01402	T	0.0551051895484542	0.06374	T	0.530047	0.17581	T	0.020317389	0.00586	0.048495054	0.07215	0.020317389	0.00586	0.048495054	0.07215	-5.343	0.40366	T	.	.	0.078	0.06896	B	.	.	-1.156049	0.00577	0.014	0.98269003362655172	0.39740	0.00406	0.02023	N	AEFBI	.	.	.	-1.58955454362856	0.01317	0.05737921	-1.64891221770057	0.01382	0.06241248	1.24261121917014E-4	0.05386	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.93	-1.59	0.08003	-4.721000	0.00225	-20.000000	0.00162	-1.921000	0.00507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4086:0.1985:0.3929	3.498	0.07224	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	456.43	260	chr14	104947029	.	C	T	456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=2218;ExcessHet=0;FS=16.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.28;MQRankSum=-10.57;QD=1.84;ReadPosRankSum=-6.289;SOR=2.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,27:248:99:0|1:104947029_C_T:468,0,9163:104947029	9	0	1	0
chr14	104947035	104947036	TG	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8115_8116del:p.M2706Dfs*34,AHNAK2:NM_138420:exon7:c.8415_8416del:p.M2806Dfs*34	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0	0.0022	0	0.0002	0	0.0003	3.84e-05	1	26028	rs774608875	5.476e-05	0.0002	4.222e-05	6.742e-05	0.0008	4.479e-05	4.149e-05	0.0005	0.0005	0.0008	8.952e-05	0.0002	0.0002	0	0.0003	2.519e-05	9.947e-05	1.16e-05	0.0004	0.0006	0.0004	0.0005	0.0016	0.0003	0.0003	0.0008	0.0006	0.0007	0	0.0005	0.0003	0.0016	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	324.39	260	chr14	104947034	.	ATG	A	324.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.86;DP=2205;ExcessHet=0;FS=15.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.36;MQRankSum=-11.26;QD=1.31;ReadPosRankSum=-6.206;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,24:247:99:0|1:104947029_C_T:336,0,9291:104947029	9	0	1	0
chr14	104947037	104947037	-	AT	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8113_8114insAT:p.G2705Dfs*3,AHNAK2:NM_138420:exon7:c.8413_8414insAT:p.G2805Dfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.971e-05	0	0	0	0	7.496e-05	0	6.056e-05	3.84e-05	1	26028	rs759592260	1.369e-05	4.447e-05	1.226e-05	1.513e-05	0.0003	8.94e-06	7.27e-06	0.0002	0.0001	0.0003	4.477e-05	0	0	0	0	5.397e-06	1.658e-05	1.16e-05	0.0001	0.0002	0.0001	0.0001	0.0003	7.199e-05	5.935e-05	0.0001	0.0001	0.0002	0	0.0003	0	0	0	0	2.963e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	205.39	260	chr14	104947037	.	C	CAT	205.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.08;DP=2200;ExcessHet=0;FS=20.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.35;MQRankSum=-11.99;QD=0.85;ReadPosRankSum=-6.324;SOR=2.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,21:242:99:0|1:104947029_C_T:217,0,9217:104947029	9	0	1	0
chr14	105175985	105175985	T	C	exonic	NUDT14	.	nonsynonymous SNV	NUDT14:NM_001318380:exon5:c.A431G:p.D144G	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450284065	8.938e-06	8.209e-06	3.497e-06	1.463e-05	9.356e-05	4.52e-06	3.3e-06	4.379e-05	3.091e-05	0	0	0	0	0	0	3.302e-06	0	9.356e-05	6.572e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.05	1174.43	34	chr14	105175985	.	T	C	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=466;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.142;SOR=0.521	GT:AD:DP:GQ:PL	0/1:81,50:131:99:1186,0,1940	9	0	1	0
chr15	20534636	20534636	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G1798A:p.E600K	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0985	0.0379	0.0443	0.0345	0	0.1173	0.075	0.1074	3.84e-05	1	26028	rs59357493	0.0004	0.0037	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0008	8.251e-05	0.0002	0	0.0004	0.0003	0.0001	0.0003	0.0023	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0004	0	0.0003	0.0006	0	0.0004	0	0	.	.	.	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	0.952094	0.26450	N	.	.	.	.	.	.	.	.	.	0.038	0.01203	-0.9532	0.40416	T	0.018	0.07234	T	8	0.0031652749	0.00053	T	.	.	.	.	.	.	.	.	.	0.006455172404675729	0.00613	.	.	0.596014380455	0.52342	T	0.010734	0.09664	T	-0.287572	0.09881	T	-0.650854	0.08894	T	0.0059799908030151	0.00066	T	0.616838	0.23625	T	0.02425393	0.01240	0.07338568	0.15941	0.02425393	0.01240	0.07338568	0.15940	-5.889	0.45341	T	.	.	0.097	0.16010	B	.	.	0.675370	0.10439	7.159	0.48367211772638852	0.04030	0.01228	0.04347	N	AEFI	0.033541	0.04001	N	-1.15607587781134	0.05680	0.2595916	-1.27412629120167	0.04783	0.2264471	2.61148922613955E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.301000	0.08269	-1.086000	0.06374	-0.793000	0.03229	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9994:0.0:6.0E-4	5.950	0.18479	1000	0.00083	.	.	.	.	.	.	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	0.059633	0.024590	0.040000	0.015152	0.000000	0.055556	0.066038	0.138889	0.05	140.44	26	chr15	20534636	.	C	T	140.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,8:50:99:0|1:20534636_C_T:151,0,1670:20534636	9	0	1	0
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	852.12	34	chr15	20536401	.	G	C	852.12	.	AC=2;AF=0.1;AN=20;DP=331;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=51.35;QD=25.82;SOR=0.88	GT:AD:DP:GQ:PL	1/1:0,33:33:99:875,99,0	9	1	0	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	0/1:184,36:220:99:534,0,5210	0	9	1	0
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.17	3	chr15	22768302	.	T	*	48.17	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.967;DP=23;ExcessHet=0.0673;FS=0;MLEAC=3;MLEAF=0.188;MQ=49.73;MQRankSum=-1.383;QD=6.88;ReadPosRankSum=-1.383;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:131,9,0:22768260	6	1	1	2
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	875.01	40	chr15	23361381	.	G	*	875.01	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.008;DP=747;ExcessHet=2.8389;FS=0.56;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=56.36;MQRankSum=-0.579;QD=1.81;ReadPosRankSum=2.14;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,12:65:99:.:.:346,0,2061:.	6	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	812.66	40	chr15	23361385	.	C	*	812.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.366;DP=726;ExcessHet=2.8389;FS=2.674;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.222;MQ=56.82;MQRankSum=0.504;QD=1.8;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,12:65:99:.:.:346,0,2061:.	5	0	4	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,47:107:99:.:.:3982,2175,2613:.	0	0	10	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1	2398.14	41	chr15	28257189	.	T	C	2398.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.59;DP=491;ExcessHet=0.2348;FS=1.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.72;SOR=0.552	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1046,0,995	8	0	2	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	125.49	6	chr15	28843134	.	C	T	125.49	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.967;DP=83;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1478;MLEAC=2;MLEAF=0.111;MQ=52.36;MQRankSum=-0.967;QD=9.65;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:28843134_C_T:81,0,36:28843134	7	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	124.83	8	chr15	28843135	.	C	A	124.83	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.967;DP=86;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.1;MQ=52.36;MQRankSum=-0.967;QD=9.6;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:28843134_C_T:81,0,36:28843134	8	0	2	0
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	122.42	9	chr15	28843142	.	C	A	122.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.383;DP=89;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.145;MLEAC=2;MLEAF=0.111;MQ=52.94;MQRankSum=-1.013;QD=8.74;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28843134_C_T:78,0,78:28843134	7	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	122.16	10	chr15	28843145	.	A	G	122.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1408;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.73;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28843134_C_T:78,0,78:28843134	8	0	2	0
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	121.31	10	chr15	28843152	.	C	T	121.31	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1187;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.67;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28843134_C_T:78,0,78:28843134	8	0	2	0
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.27	10	chr15	28843155	.	C	T	118.27	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=92;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1171;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28843134_C_T:78,0,78:28843134	8	0	2	0
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.16	12	chr15	28843163	.	C	A	118.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=94;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1122;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=0;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28843134_C_T:78,0,78:28843134	8	0	2	0
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.18	12	chr15	28843173	.	C	T	118.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.501;DP=97;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1131;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.013;QD=7.88;ReadPosRankSum=0.674;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:28843134_C_T:75,0,119:28843134	8	0	2	0
chr15	32168354	32168354	C	T	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.C1405T:p.R469C,CHRNA7:NM_001190455:exon10:c.C1492T:p.R498C	Schizophrenia, neurophysiologic defect in	196	1315	11	0	0	11	0.00416509	.	.	.	1291872	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.909	0.553253761345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170628768	0.0005	0.0004	0.0003	0.0008	0.0059	0.0005	0.0005	0.0054	0.0052	5.157e-05	0.0001	0	0.0002	0	0.0007	0.0001	0.0007	0.0059	0.0002	0.0002	0.0002	0.0002	0.0034	0.0001	0.0001	0.0017	0.0012	8.438e-05	0	9.531e-05	0	0.0006	0	0.0039	0.0001	0	0.0034	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000034	0.55875	D	0.156522	1	0.81001	D	4.465	0.98868	H	-2.5	0.89219	D	-6.76	0.92980	D	0.804	0.82257	0.957	0.96498	D	0.868	0.95597	D	10	0.9478278	0.94111	D	0.553254	0.95891	D	0.909	0.97549	0.887	0.97178	0.90926303857	0.90835	0.8656135148711886	0.86526	.	.	0.892295122147	0.95543	D	0.945412	0.99174	D	0.458168	0.92843	D	0.42035	0.92755	D	0.204311055630479	0.20652	T	0.999706	0.99908	D	0.73728424	0.80137	0.6016395	0.76854	0.73728424	0.80139	0.6016395	0.76855	-14.885	0.95577	D	.	.	0.985	0.92184	P	.;.;.;.;.	.;.;.;.;.	5.941134	0.94130	33	0.99915473679406486	0.98379	0.92927	0.56890	D	AEFGI	0.702531	0.65887	D	0.743938986608554	0.82508	7.780338	0.601407334097103	0.75040	6.241057	0.0419777051083595	0.14506	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.66	3.66	0.41111	4.543000	0.60395	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.669	0.61890	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.45	19	chr15	32168354	.	C	T	47.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.84;DP=145;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=26.55;MQRankSum=0.319;QD=3.95;ReadPosRankSum=-1.543;SOR=0.148	GT:AD:DP:GQ:PL	0/1:9,3:12:59:59,0,244	9	0	1	0
chr15	41092155	41092155	C	T	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon5:c.G409A:p.E137K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.126427540163	.	.	8.291e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs763537541	6.872e-07	1.368e-06	0	1.383e-06	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.064	0.44905	T	0.167	0.28604	B	0.012	0.16012	B	0.000000	0.84330	D	0.049572	0.993079	0.41828	D	0.895	0.22405	L	-2.9	0.91643	D	-1.47	0.35991	N	0.469	0.50508	0.062	0.83472	D	0.632	0.87115	D	10	0.21449819	0.37973	T	0.126428	0.80808	D	0.410	0.72176	0.133	0.03747	0.182106788282	0.17826	0.10645590777791607	0.10575	0.0514314691617	0.05660	0.680059731007	0.64277	T	0.049591	0.28350	T	0.0585364	0.59430	T	-0.153693	0.58916	T	0.601746928739137	0.36470	D	0.916508	0.70155	D	0.25096986	0.48102	0.26779434	0.52641	0.25096986	0.48102	0.26779434	0.52640	-6.581	0.50907	T	.	.	0.224	0.47094	B	.;.;.	.;.;.	3.823467	0.55226	23.6	0.99798006214769441	0.88283	0.99138	0.91786	D	AEFBI	0.669035	0.63661	D	-0.0300563622633332	0.40498	2.406036	0.113158685481346	0.45221	2.789131	0.999889214384319	0.44867	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	6.972000	0.75895	7.662000	0.64290	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:1.0:0.0:0.0	19.310	0.94170	300	0.87974	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	33	chr15	41092155	.	C	T	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=353;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.493;SOR=0.435	GT:AD:DP:GQ:PL	0/1:30,19:49:99:465,0,735	9	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	142.46	33	chr15	41096253	.	G	C	142.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.87;DP=572;ExcessHet=0.7463;FS=231.403;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.13;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,12:71:3:.:.:3,0,1745:.	7	0	3	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W,MAPKBP1:NM_014994:exon20:c.C2236T:p.R746W,MAPKBP1:NM_001128608:exon21:c.C2254T:p.R752W	Nephronophthisis 20, Autosomal recessive	431	1045	44	2	0	48	0.0224509	.	.	.	714428	not_provided|Nephronophthisis_20	MedGen:C3661900|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.011078	0.010101	0.002717	0.005848	0.000000	0.017241	0.021341	0.022727	0.05	1810.43	38	chr15	41818902	.	C	T	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=497;ExcessHet=0;FS=5.835;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.284;SOR=1.149	GT:AD:DP:GQ:PL	0/1:80,79:159:99:1822,0,1793	9	0	1	0
chr15	41853395	41853395	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon59:c.G10033A:p.D3345N	.	412	1106	4	0	0	4	0.00180505	.	.	.	2817448	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.04476684005	0.0035	0.00159744	0.0033	0.0019	0.0013	0	0.0004	0.0051	0.0041	0.0015	0.0029948	463	154602	rs149954264	0.0051	0.0051	0.0054	0.0049	0.0063	0.0050	0.0050	0.0062	0.0062	0.0004	0.0013	3.84e-05	0	0.0011	0.0010	0.0063	0.0038	0.0012	0.0031	0.0031	0.0035	0.0026	0.0056	0.0028	0.0027	0.0051	0.0050	0.0011	0	0.0018	0	0	0.0006	0	0.0056	0.0014	0.0004	0.01	0.56456	D	0.004	0.74150	D	0.999	0.77913	D	0.984	0.76113	D	0.067788	0.21716	N	0.407064	0.732414	0.29816	N	2.45	0.71042	M	0.85	0.47130	T	-3.71	0.70674	D	0.252	0.28498	-0.3946	0.72197	T	0.264	0.63480	T	10	0.008194685	0.00186	T	0.044767	0.61651	D	0.146	0.38789	.	.	0.779090105017	0.77705	0.057450263223684045	0.05686	.	.	0.439294844866	0.30480	T	0.159928	0.50357	T	-0.61153	0.00124	T	-0.645929	0.09242	T	0.037168599805767	0.03186	T	0.562444	0.19755	T	0.13140665	0.30631	0.15890333	0.37084	0.13140665	0.30631	0.15890333	0.37084	-7.108	0.54818	T	.	.	0.120	0.24666	B	.	.	2.307453	0.29529	18.15	0.98953176063881787	0.49170	0.85103	0.44209	D	AEFBCI	0.205481	0.33182	N	0.0691802134732817	0.45029	2.766432	-0.13831217229313	0.33860	1.941471	0.999956689610922	0.48110	0.562547	0.31514	0	0.547309	0.14657	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.38	3.46	0.38718	2.956000	0.48822	2.069000	0.30434	-0.249000	0.07183	0.984000	0.35821	0.109000	0.22772	0.004000	0.06068	0.0:0.9154:0.0:0.0846	12.092	0.53030	222	0.91398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	713.43	34	chr15	41853395	.	C	T	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=373;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.403;SOR=0.976	GT:AD:DP:GQ:PL	0/1:34,26:60:99:725,0,901	9	0	1	0
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	A	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,13:44:99:0|1:42417393_G_A:111,0,711:42417393	7	0	2	1
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	337.46	33	chr15	43021291	.	A	G	337.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.992;DP=879;ExcessHet=0.7463;FS=129.905;InbreedingCoeff=-0.177;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.541;SOR=10.272	GT:AD:DP:GQ:PL	0/1:91,35:126:49:49,0,1429	7	0	3	0
chr15	43329505	43329505	A	G	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.T985C:p.F329L	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00666505673288	0.0002	0.000199681	0.0013	0	0.0003	0	0	0.0002	0.0022	0.0082	0.001022	158	154602	rs200311619	0.0007	0.0007	0.0004	0.0010	0.0088	0.0007	0.0006	0.0083	0.0081	5.974e-05	2.236e-05	3.826e-05	0	0	0.0023	0.0002	0.0005	0.0088	0.0003	0.0003	0.0001	0.0005	0.0068	0.0002	0.0002	0.0050	0.0044	4.809e-05	0	0	0	0	0	0	0.0001	0	0.0068	0.837	0.02832	T	0.674	0.06225	T	0.008	0.14655	B	0.002	0.06944	B	0.053236	0.22826	N	0.480118	0.847887	0.35173	D	2.085	0.57729	M	2.39	0.15724	T	-0.49	0.15578	N	0.1	0.08227	-1.0591	0.11981	T	0.030	0.12979	T	10	0.0049446523	0.00106	T	0.006665	0.17585	T	0.058	0.16647	0.314	0.28935	0.128392430309	0.12331	0.27014594239361456	0.26927	0.178477909626	0.20085	0.357850790024	0.19072	T	0.010891	0.09781	T	-0.580809	0.00190	T	-0.601237	0.12707	T	0.037363487113471	0.03220	T	0.455254	0.13018	T	0.060068794	0.12282	0.07896276	0.17735	0.060068794	0.12282	0.07896276	0.17734	-1.727	0.02301	T	.	.	0.402	0.59705	A	.	.	1.314358	0.17179	13.01	0.4587139102664054	0.03632	0.54289	0.29579	D	AEFDGBCI	0.074165	0.14857	N	-0.513078896686496	0.21657	1.150925	-0.432315218927853	0.24054	1.315144	0.999999689524946	0.74766	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.39	4.24	0.49486	0.982000	0.29137	4.531000	0.43726	0.756000	0.94297	0.319000	0.25494	0.999000	0.35428	0.006000	0.07323	0.9084:0.0:0.0916:0.0	8.062	0.29799	15	0.98792	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1654.43	35	chr15	43329505	.	A	G	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.508;DP=544;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.927;SOR=0.639	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1666,0,1760	9	0	1	0
chr15	49037631	49037631	T	C	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_001193489:exon2:c.A163G:p.I55V,SECISBP2L:NM_014701:exon2:c.A163G:p.I55V	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	.	0.0002	0.00259585	0.0012	9.66e-05	0.0004	0	0	0.0004	0.0011	0.0070	0.0010931	169	154602	rs150653088	0.0007	0.0007	0.0005	0.0009	0.0082	0.0007	0.0007	0.0077	0.0075	2.988e-05	0.0003	0.0035	0	0	0.0023	0.0001	0.0009	0.0082	0.0005	0.0005	0.0004	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	0	0	0.0001	0.0055	0	0	0	0.0002	0	0.0091	0.011	0.91255	D	0.589	0.92824	T	0.985	0.64070	D	0.952	0.74104	D	0.000000	0.84330	D	0.000000	0.999802	0.49283	D	1.955	0.52871	M	-0.99	0.76690	T	0.12	0.20145	N	0.652	0.66272	-0.2008	0.77651	T	0.481	0.80175	T	10	0.009497613	0.00214	T	.	.	.	0.321	0.64318	.	.	0.771572928667	0.76947	0.22447663390087713	0.22362	0.412230636246	0.41969	0.765780806541	0.76791	T	0.053463	0.39499	T	-0.221795	0.17750	T	-0.0869445	0.64391	T	0.0496241258827172	0.05434	T	0.950705	0.81134	D	0.15977032	0.35872	0.14038622	0.33465	0.15977032	0.35872	0.14038622	0.33464	-2.227	0.04280	T	.	.	0.276	0.75343	B	.;.;.	.;.;.	3.455610	0.48139	22.6	0.9991694438980665	0.98449	0.97645	0.76123	D	AEFDGBI	0.894490	0.83351	D	0.568544567222546	0.71218	5.617583	0.60006815488969	0.74946	6.224273	0.999999999998368	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	6.148000	0.54152	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.360	0.74179	470	0.78111	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	480.43	35	chr15	49037631	.	T	C	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=384;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.43;SOR=0.824	GT:AD:DP:GQ:PL	0/1:46,25:71:99:492,0,1076	9	0	1	0
chr15	55863009	55863009	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_198400:exon2:c.T1619C:p.L540P,NEDD4:NM_001284340:exon4:c.T1784C:p.L595P,NEDD4:NM_001284338:exon5:c.T1835C:p.L612P,NEDD4:NM_001284339:exon5:c.T1787C:p.L596P,NEDD4:NM_001329212:exon9:c.T137C:p.L46P,NEDD4:NM_006154:exon9:c.T578C:p.L193P	.	.	.	.	.	.	.	.	.	.	.	3990618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.875	0.327988301141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.062e-06	2.052e-06	1.368e-06	2.763e-06	3.515e-05	5.5e-07	1.5e-07	9.33e-06	4.59e-06	0	0	0	0	0	0	0	0	3.515e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.001712	0.38216	N	0.225703	1	0.81001	D	4.32	0.98342	H	-2.26	0.87352	D	-5.35	0.91868	D	0.73	0.79696	0.610	0.92029	D	0.645	0.87622	D	10	0.8393119	0.83085	D	0.327988	0.91668	D	0.875	0.96280	0.612	0.74535	0.938332555471	0.93769	0.8503243753396797	0.84994	0.385598575638	0.39849	0.66730517149	0.62453	T	0.645126	0.89163	D	0.402032	0.90029	D	0.339714	0.89904	D	0.996041536331177	0.88560	D	0.919908	0.72323	D	0.9373294	0.94976	0.90449286	0.95295	0.9373294	0.94976	0.90449286	0.95296	-10.216	0.80252	D	.	.	0.792	0.80872	P	.;.;.;.	.;.;.;.	4.653707	0.74205	26.1	0.99913781021380899	0.98238	0.98392	0.82308	D	AEFBI	0.947003	0.95709	D	0.696227995993163	0.79384	7.066516	0.687639894814827	0.81438	7.527055	0.999999999956944	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.653264	0.51672	0	0.633917	0.49826	0	.	.	5.56	5.56	0.83678	8.260000	0.89792	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.906	0.70362	778	0.48011	.;WW domain|WW domain|WW domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	912.43	34	chr15	55863009	.	A	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.23;DP=387;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.157;SOR=0.833	GT:AD:DP:GQ:PL	0/1:45,39:84:99:924,0,1074	9	0	1	0
chr15	55873969	55873969	A	T	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon2:c.T1588A:p.Y530N,NEDD4:NM_001284339:exon2:c.T1588A:p.Y530N,NEDD4:NM_006154:exon6:c.T331A:p.Y111N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0226824892986	.	.	4.004e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs776591678	5.02e-06	5.473e-06	4.252e-06	5.807e-06	9.099e-05	2.09e-06	1.34e-06	4.172e-05	3.023e-05	0	0	0	0	0	0	0	0	9.099e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.13045	T	0.341	0.18617	T	0.008	0.29441	B	0.014	0.30180	B	.	.	.	.	1	0.81001	D	-0.61	0.02200	N	-0.41	0.69413	T	-0.22	0.10480	N	0.327	0.45142	-1.0054	0.28337	T	0.126	0.43153	T	9	0.14422327	0.27372	T	0.022682	0.45590	T	0.237	0.54074	0.427	0.47350	0.825318278829	0.82366	0.26000044948656487	0.25914	.	.	.	.	.	0.088874	0.38251	T	-0.0756116	0.40425	T	-0.150752	0.59177	T	0.189294817638251	0.19803	T	0.939106	0.77145	D	0.18861729	0.40369	0.1358372	0.32513	0.18861729	0.40369	0.1358372	0.32512	-2.69	0.43827	T	.	.	0.235	0.48705	B	.;.;.	.;.;.	3.343151	0.46072	22.2	0.91045408916241222	0.20297	0.72224	0.35359	D	AEFBI	0.250101	0.37021	N	-0.268258960058605	0.30382	1.693507	-0.0459162285515734	0.37668	2.208591	0.999990369333981	0.74766	0.660085	0.49399	0	0.588015	0.36545	0	0.618467	0.43123	0	0.651492	0.60203	0	.	.	5.08	5.08	0.68373	2.726000	0.46973	9.177000	0.79062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.913:0.0:0.087:0.0	8.666	0.33285	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	298.43	18	chr15	55873969	.	A	T	298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=197;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=1.58;SOR=1.445	GT:AD:DP:GQ:PL	0/1:4,12:16:51:310,0,51	9	0	1	0
chr15	59163157	59163157	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon23:c.C2627G:p.T876R	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	2	1515	4	0	1	5	0.00131839	0.0002	0.102	YES	860175	Focal_segmental_glomerulosclerosis_6|MYO1E-related_disorder|not_provided	MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0126745939625	0.0025	0.000199681	0.0015	0.0011	8.881e-05	0	0.0002	0.0021	0.0023	0.0017	0.0015653	242	154602	rs147596471	0.0027	0.0027	0.0027	0.0027	0.0033	0.0026	0.0026	0.0032	0.0031	0.0003	0.0006	3.828e-05	5.039e-05	0.0003	0.0003	0.0033	0.0028	0.0013	0.0015	0.0015	0.0017	0.0013	0.0028	0.0014	0.0013	0.0025	0.0024	0.0003	0	0.0010	0	0	0.0002	0	0.0028	0.0014	0.0012	0.444	0.09155	T	0.636	0.07059	T	0.001	0.07471	B	0.006	0.12133	B	0.000053	0.53742	D	0.163829	0.999999	0.58761	D	0.55	0.14455	N	1.21	0.37230	T	-0.66	0.19085	N	0.461	0.49783	-1.0848	0.06444	T	0.052	0.22192	T	9	0.016517103	0.00348	T	0.012675	0.31446	T	0.178	0.44724	.	.	0.520586239559	0.51704	0.6389046100548437	0.63824	0.301061417325	0.32454	0.733673036098	0.72043	T	0.096844	0.39906	T	-0.299329	0.08724	T	-0.201788	0.54476	T	0.0115339636240952	0.00174	T	0.919908	0.71037	D	0.090014316	0.21048	0.10514897	0.25270	0.10629278	0.25133	0.08917522	0.20836	-11.6	0.82848	D	.	.	0.324	0.54775	B	.	.	3.157853	0.42778	21.6	0.6009698225517609	0.06381	0.96367	0.68792	D	AEFGBI	0.686268	0.64800	D	-0.252186376787559	0.31016	1.735047	-0.133058076294497	0.34067	1.955516	0.999999999563368	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	4.062000	0.57206	5.654000	0.49193	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0891:0.0:0.9109:0.0	10.524	0.44126	360	0.84920	Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	328.43	34	chr15	59163157	.	G	C	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=359;ExcessHet=0;FS=4.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=0.623;SOR=1.445	GT:AD:DP:GQ:PL	0/1:33,15:48:99:340,0,736	9	0	1	0
chr15	59618450	59618450	C	G	exonic	GCNT3	.	stopgain	GCNT3:NM_004751:exon3:c.C212G:p.S71X	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000399361	0.0012	0.0004	0.0011	0	0.0003	0.0015	0.0033	0.0013	0.001229	190	154602	rs138620928	0.0017	0.0017	0.0017	0.0018	0.0020	0.0017	0.0016	0.0019	0.0019	0.0005	0.0010	0.0006	0	0.0001	0.0009	0.0020	0.0016	0.0013	0.0014	0.0014	0.0015	0.0014	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0021	0.0003	0	9.423e-05	0	0.0023	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.008210	0.30959	N	0.313430	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301626	0.83098	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive|Recessive;Recessive|Recessive;.	.;High|High;High|High;.	8.260973	0.97357	37	0.99511947241223164	0.68678	0.99078	0.90902	D	AEFBI	0.092318	0.18690	N	1.00680970283593	0.95950	14.13746	0.836821353762288	0.92224	11.30429	0.99999999998987	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.16	6.16	0.99302	4.377000	0.59330	7.657000	0.64017	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	20.860	0.99763	897	0.25382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	2556.14	128	chr15	59618450	.	C	G	2556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=493;ExcessHet=0.2348;FS=4.882;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.3;SOR=1.027	GT:AD:DP:GQ:PL	0/1:46,31:77:99:902,0,1239	8	0	2	0
chr15	64397687	64397687	G	A	exonic	TRIP4	.	nonsynonymous SNV	TRIP4:NM_016213:exon4:c.G487A:p.V163I	Spinal muscular atrophy with congenital bone fractures 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00340167790106	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs746409740	4.104e-06	4.788e-06	4.084e-06	4.125e-06	2.236e-05	1.48e-06	9.7e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	4.967e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.296	0.20615	T	0.78	0.44271	P	0.105	0.31087	B	0.000001	0.84330	D	0.054795	0.999994	0.58761	D	2.075	0.57047	M	.	.	.	-0.48	0.15379	N	0.286	0.32370	-0.8309	0.53244	T	0.158	0.49161	T	9	0.24846965	0.42144	T	0.003402	0.07633	T	0.131	0.35738	0.421	0.46365	0.409262747536	0.40539	0.1955031072549032	0.19467	0.16765869576	0.18903	0.513519287109	0.40715	T	0.032414	0.22475	T	-0.131641	0.31232	T	-0.344004	0.39890	T	0.463170826435089	0.31281	T	0.909209	0.67884	D	0.089792885	0.20991	0.1159399	0.27990	0.089792885	0.20990	0.1159399	0.27989	-6.169	0.47671	T	0.13340871171360671	0.14315	0.074	0.05274	B	.	.	3.645926	0.51717	23.1	0.92361021483239936	0.21764	0.99304	0.94225	D	AEFGBI	0.864078	0.78278	D	0.395397930603505	0.61171	4.314788	0.49270266390827	0.67504	5.093068	0.999999838360268	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.725000	0.83768	9.762000	0.81515	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.260	0.93950	300	0.87974	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	940.43	35	chr15	64397687	.	G	A	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.076;DP=393;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.24;SOR=0.506	GT:AD:DP:GQ:PL	0/1:35,44:79:99:952,0,781	9	0	1	0
chr15	65402468	65402468	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon4:c.G583A:p.G195S	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913	0.466944207722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931572696	7.916e-05	7.935e-05	9.219e-05	6.582e-05	0.0001	6.706e-05	6.272e-05	8.49e-05	7.895e-05	3.054e-05	0	0	0	0	0	0.0001	3.406e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.066	0.36113	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-1.55	0.81727	D	-5.72	0.87531	D	0.814	0.80964	0.509	0.90670	D	0.696	0.89532	D	10	0.90235984	0.89598	D	0.466944	0.94613	D	0.913	0.97700	.	.	0.643109767165	0.64016	0.7710646631867997	0.77055	0.380123273154	0.39380	0.612001001835	0.54600	T	0.189802	0.54414	T	0.344676	0.86148	D	0.257327	0.85965	D	0.970153391361237	0.68847	D	0.915608	0.69895	D	0.49349478	0.66710	0.47316644	0.69462	0.49349478	0.66711	0.47316644	0.69462	-5.194	0.38881	T	.	.	0.462	0.62806	A	.	.	6.557413	0.95399	35	0.9987945934155914	0.95572	0.97813	0.77322	D	AEFBI	0.797057	0.72401	D	0.766620868591508	0.83984	8.162427	0.738154097175784	0.85270	8.530607	0.999999999998348	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	7.477000	0.80071	7.591000	0.61250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	17.445	0.87468	457	0.78953	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1507.43	35	chr15	65402468	.	C	T	1507.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=440;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.988;SOR=0.826	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1519,0,1153	9	0	1	0
chr15	65422850	65422850	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon1:c.G13A:p.D5N	.	388	1123	10	1	0	12	0.00531444	.	.	.	2342982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.499858347004	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755306114	0.0005	0.0006	0.0005	0.0006	0.0063	0.0005	0.0005	0.0055	0.0052	9.634e-05	0.0006	0.0012	8.899e-05	0.0001	0.0030	0.0003	0.0009	0.0063	0.0005	0.0005	0.0005	0.0005	0.0037	0.0004	0.0004	0.0024	0.0020	4.865e-05	0	0.0002	0.0003	0	0	0	0.0008	0	0.0037	0.229	0.18371	T	0.0	0.92824	D	0.98	0.59353	D	0.811	0.58656	P	0.404216	0.04553	U	1.609780	0.996631	0.22952	N	0.345	0.11182	N	0.05	0.61923	T	0.12	0.05604	N	0.1	0.08227	-0.8152	0.54232	T	0.226	0.59032	T	10	0.068186134	0.09608	T	0.499858	0.95135	D	0.146	0.38789	.	.	0.580477355671	0.57718	0.2015461539111955	0.20071	0.0587796702461	0.06521	0.880768299103	0.94064	D	0.004381	0.03788	T	-0.533063	0.00368	T	-0.604605	0.12427	T	0.471055365374205	0.31570	T	0.39496	0.09912	T	0.083695285	0.19338	0.05967752	0.11241	0.083695285	0.19338	0.05967752	0.11241	-5.358	0.40513	T	.	.	0.205	0.43130	B	.	.	2.121465	0.27001	17.31	0.99345328073515093	0.60371	0.48887	0.28308	N	AEFDBHCIJ	0.097957	0.19748	N	0.02095915820701	0.42809	2.586375	-0.043797544581025	0.37760	2.215268	0.999999852373888	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.171818	0.04044	3	0.554799	0.18163	0	.	.	2.32	2.32	0.27895	0.271000	0.18390	-0.176000	0.11179	0.412000	0.20661	0.013000	0.18845	0.013000	0.20296	0.802000	0.37819	0.0:1.0:0.0:0.0	7.843	0.28569	455	0.79073	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	75.44	8	chr15	65422850	.	C	T	75.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=131;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.39;ReadPosRankSum=0.638;SOR=1.609	GT:AD:DP:GQ:PL	0/1:10,4:14:87:87,0,408	9	0	1	0
chr15	67521275	67521275	G	T	exonic	C15orf61	.	nonsynonymous SNV	C15orf61:NM_001143936:exon1:c.G27T:p.E9D	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.000998403	0.0369	0	.	.	.	0.0526	0	0.0341	0.0003363	52	154602	rs560365405	0.0009	0.0009	0.0008	0.0010	0.0059	0.0009	0.0008	0.0055	0.0053	0.0002	0.0005	0.0049	0	9.706e-05	0.0010	0.0006	0.0015	0.0059	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0047	0.0041	9.653e-05	0	6.555e-05	0.0049	0	0	0	0.0003	0	0.0064	0.268	0.16144	T	0.522	0.10391	T	0.906	0.49993	P	0.325	0.41883	B	0.250650	0.15517	N	0.561164	0.903981	0.27645	N	1.935	0.51832	L	.	.	.	-0.73	0.20576	N	0.125	0.11769	-1.0847	0.06462	T	0.088	0.34133	T	9	0.0040792823	0.00080	T	.	.	.	0.059	0.16972	0.263	0.20788	0.0297737177859	0.01360	0.3688704884610712	0.36801	.	.	.	.	.	0.021051	0.16461	T	-0.479166	0.00748	T	-0.457619	0.26858	T	0.0560981555582796	0.06541	T	0.542646	0.18460	T	0.0759986	0.17159	0.09170011	0.21573	0.0759986	0.17159	0.09170011	0.21572	-3.544	0.17053	T	.	.	0.163	0.36053	B	.	.	1.824539	0.23182	15.92	0.93696960788483574	0.23607	0.90747	0.52185	D	ALL	0.100375	0.20184	N	-0.366012322464783	0.26688	1.458449	-0.418579833400431	0.24452	1.339055	0.999999999998771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.6	2.68	0.30839	0.402000	0.20690	6.957000	0.57044	-0.190000	0.09434	0.954000	0.33273	1.000000	0.68203	0.035000	0.13729	0.1796:0.1528:0.6676:0.0	6.327	0.20455	475	0.77788	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	275.43	21	chr15	67521275	.	G	T	275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.313;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.049;SOR=0.941	GT:AD:DP:GQ:PL	0/1:14,13:27:99:287,0,365	9	0	1	0
chr15	67827308	67827308	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G1480A:p.A494T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.179906338612	.	.	3.886e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs776400578	2.224e-05	3.147e-05	1.661e-05	2.792e-05	0.0003	1.609e-05	1.377e-05	0.0002	0.0002	0	0	0	0	0	0	0	5.009e-05	0.0003	6.598e-06	6.573e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.407	0.11191	T	0.441	0.14200	T	.	.	.	.	.	.	0.569207	0.11256	N	0.762936	0.725367	0.81001	D	0.425	0.12573	N	1.88	0.23884	T	-0.31	0.12099	N	0.208	0.29429	-1.0517	0.13926	T	0.024	0.10419	T	10	0.049054444	0.04441	T	0.179906	0.85454	D	0.090	0.26093	.	.	0.128392430309	0.12331	.	.	.	.	.	.	.	0.009209	0.08534	T	-0.387006	0.02812	T	-0.473674	0.25121	T	0.0586435166123866	0.06953	T	0.730627	0.34608	T	0.124358214	0.29180	0.14639972	0.34686	0.124358214	0.29180	0.14639972	0.34685	-4.33	0.28596	T	.	.	0.114	0.22789	B	.;.;.	.;.;.	3.491124	0.48798	22.7	0.9964955424096078	0.77192	0.73152	0.35786	D	AEFDBHCI	.	.	.	-0.528430971458551	0.21165	1.121244	-0.426558580198497	0.24221	1.325163	0.999999625289834	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.12	3.12	0.34986	2.378000	0.43964	7.700000	0.66237	0.482000	0.22156	0.257000	0.24919	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	11.713	0.50902	340	0.86005	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	837.43	39	chr15	67827308	.	G	A	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.253;DP=403;ExcessHet=0;FS=3.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.17;SOR=0.353	GT:AD:DP:GQ:PL	0/1:25,38:63:99:849,0,465	9	0	1	0
chr15	72735954	72735954	A	T	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon13:c.A720T:p.E240D,BBS4:NM_001320665:exon13:c.A1167T:p.E389D,BBS4:NM_033028:exon14:c.A1236T:p.E412D	Bardet-Biedl syndrome 4, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	255356	Bardet-Biedl_syndrome_4|not_specified|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	.	0.0010	0.00219649	0.0017	9.612e-05	0.0011	0	0.0002	0.0011	0	0.0071	0.0015977	247	154602	rs147202164	0.0012	0.0012	0.0010	0.0014	0.0080	0.0012	0.0012	0.0068	0.0066	0.0002	0.0011	0.0002	0	0.0003	0.0080	0.0009	0.0014	0.0073	0.0009	0.0009	0.0008	0.0010	0.0081	0.0008	0.0007	0.0061	0.0054	0.0002	0	0.0013	0.0006	0	0.0002	0.0137	0.0008	0.0009	0.0081	0.631	0.05137	T	0.608	0.12316	T	0.0	0.02946	B	0.002	0.06944	B	0.000051	0.53742	D	0.165515	0.851858	0.35848	D	0.94	0.23649	L	-0.17	0.65563	T	-0.26	0.11185	N	0.193	0.21188	-1.1085	0.03201	T	0.076	0.30522	T	10	0.0062256753	0.00140	T	.	.	.	0.118	0.32913	0.536	0.64585	0.467585353272	0.46384	0.12365382285431516	0.12291	0.0123763208072	0.01177	0.421674877405	0.28067	T	0.15607	0.49808	T	-0.453691	0.01074	T	-0.420747	0.30989	T	0.00809032004326582	0.00096	T	0.763624	0.39028	T	0.065803885	0.14100	0.03444925	0.02514	0.067963764	0.14765	0.027452525	0.00899	-4.176	0.32571	T	.	.	0.074	0.05060	B	.;.	.;.	0.535059	0.09040	5.820	0.84337932865170284	0.15233	0.18627	0.20337	N	AEFBI	0.080972	0.16379	N	-0.964398092015882	0.09372	0.4432894	-0.895571225133823	0.12198	0.6260898	0.993373274759456	0.33190	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.68	-1.56	0.08080	-0.645000	0.05506	-0.595000	0.08301	0.756000	0.94297	0.133000	0.23395	0.000000	0.08366	0.917000	0.45243	0.2643:0.2158:0.3251:0.1949	0.986	0.01356	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.015152	0.05	945.43	36	chr15	72735954	.	A	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=379;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.33;SOR=0.571	GT:AD:DP:GQ:PL	0/1:29,41:70:99:957,0,640	9	0	1	0
chr15	74044746	74044746	G	A	exonic	PML	.	nonsynonymous SNV	PML:NM_033238:exon9:c.G2387A:p.R796H	Leukemia, acute promyelocytic, PML/RARA type (3)	407	1108	7	0	0	7	0.0031489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0253256621676	0.0002	0.000399361	0.0003	0.0001	8.778e-05	0	0	0.0004	0	0	0.0002587	40	154602	rs188674537	0.0003	0.0003	0.0003	0.0003	0.0102	0.0002	0.0002	0.0081	0.0074	0.0002	0.0002	0.0036	2.519e-05	0	0.0102	0.0002	0.0006	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.276e-05	0.0001	0	0.0003	0.0032	0	0	0.0068	0.0001	0.0005	0	0.001	0.78490	D	0.008	0.67890	D	0.987	0.64070	D	0.579	0.58136	P	0.164542	0.17559	N	0.501865	0.994109	0.23586	N	1.955	0.52871	M	0.66	0.52867	T	-1.02	0.26843	N	0.228	0.42247	-0.8407	0.52600	T	0.136	0.45068	T	10	0.013035178	0.00278	T	0.025326	0.48303	D	0.095	0.27398	.	.	0.663894293613	0.66107	0.42228125283252965	0.42145	0.816048368468	0.66942	0.468564450741	0.34483	T	0.516409	0.83004	D	-0.271969	0.11539	T	-0.349006	0.39319	T	0.0544090863870707	0.06259	T	0.875612	0.58729	D	0.09021544	0.21104	0.06678625	0.13727	0.09021544	0.21103	0.06678625	0.13727	-4.789	0.36392	T	.	.	0.147	0.32445	B	.;.	.;.	3.449880	0.48029	22.5	0.99907907607437729	0.97801	0.21830	0.21539	N	AEFDGBI	0.046254	0.07661	N	0.0753120190168488	0.45313	2.789918	0.0224282577831368	0.40758	2.437617	0.999884892479627	0.44867	0.651	0.46895	0	0.694456	0.67091	0	0.576033	0.28219	0	0.683762	0.67416	0	.	.	4.82	2.79	0.31792	1.374000	0.33889	4.660000	0.44233	0.676000	0.76740	0.219000	0.24524	1.000000	0.68203	0.125000	0.19370	0.304:0.0:0.696:0.0	5.107	0.14121	801	0.44448	.;.	.	.	.	.	.	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	0.003528	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	1446.43	40	chr15	74044746	.	G	A	1446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=488;ExcessHet=0;FS=4.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.002;SOR=0.607	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1458,0,1713	9	0	1	0
chr15	74333265	74333265	G	T	exonic	CCDC33	.	nonsynonymous SNV	CCDC33:NM_182791:exon7:c.G762T:p.R254S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0134597884852	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440882898	3.445e-06	3.42e-06	1.369e-06	5.55e-06	5.972e-05	1.01e-06	7.3e-07	2.345e-05	1.467e-05	0	0	0	0	0	0	0	0	5.972e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.075	0.42794	T	0.037	0.20876	B	0.018	0.18489	B	0.002186	0.37053	N	0.124032	1	0.81001	D	.	.	.	1.81	0.25182	T	-0.71	0.20145	N	0.353	0.39457	-1.0661	0.10293	T	0.049	0.20908	T	9	0.083991945	0.14032	T	0.01346	0.32880	T	0.015	0.02232	.	.	0.202086224978	0.19791	.	.	.	.	.	.	.	.	.	.	-0.241498	0.15159	T	-0.584672	0.14130	T	0.603679716587067	0.36547	D	0.478952	0.14445	T	.	.	.	.	.	.	.	.	-2.757	0.07794	T	.	.	0.189	0.40683	B	.	.	2.486519	0.32075	18.93	0.98288949171731854	0.39926	0.83921	0.43011	D	AEFGBI	0.212552	0.33822	N	-0.365859384173941	0.26694	1.458797	-0.280121678136564	0.28753	1.605633	0.701103937207577	0.22701	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.69	1.61	0.22752	1.140000	0.31128	0.740000	0.21154	0.665000	0.62972	0.991000	0.37257	0.997000	0.33255	0.858000	0.40661	0.1063:0.1809:0.526:0.1868	2.701	0.04831	809	0.43032	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	414.43	34	chr15	74333265	.	G	T	414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.859;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-2.055;SOR=0.656	GT:AD:DP:GQ:PL	0/1:49,23:72:99:426,0,1213	9	0	1	0
chr15	81299992	81299992	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G563A:p.R188Q,IL16:NM_001172128:exon14:c.G2666A:p.R889Q,IL16:NM_001352686:exon14:c.G2819A:p.R940Q,IL16:NM_172217:exon14:c.G2666A:p.R889Q,IL16:NM_001352684:exon15:c.G836A:p.R279Q,IL16:NM_001352685:exon15:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	714646	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0079	0.00738818	0.0024	0.0268	0.0010	0	0	0	0	0	0.0021733	336	154602	rs17875512	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0007	0.0249	0.0243	0.0263	0.0012	0	5.058e-05	0	0	2.085e-05	0.0011	5.945e-05	0.0071	0.0071	0.0074	0.0068	0.0251	0.0067	0.0066	0.0238	0.0233	0.0251	0	0.0016	0	0.0002	0	0	4.411e-05	0.0043	0	0.851	0.03441	T	0.69	0.05939	T	0.01	0.17786	B	0.005	0.11217	B	0.931638	0.08417	N	0.955931	1	0.08975	N	0.57	0.15267	N	3.01	0.09075	T	0.36	0.07299	N	0.037	0.02272	-0.9338	0.43575	T	0.005	0.01797	T	10	0.0029067397	0.00047	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.13561508173948988	0.13485	0.125427775553	0.14139	0.222683817148	0.01470	T	0.085034	0.37411	T	-0.675378	0.00051	T	-0.723313	0.04637	T	0.00515059042254766	0.00056	T	0.756024	0.37907	T	0.02291157	0.00988	0.037191633	0.03321	0.02291157	0.00988	0.037191633	0.03321	-3.719	0.19599	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-0.727714	0.01257	0.065	0.80264653686563059	0.13121	0.01435	0.04825	N	AEFGBHCI	0.051139	0.09005	N	-1.4606899963958	0.02134	0.09390787	-1.50783926441269	0.02283	0.1047688	0.999999679529881	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.53	-3.93	0.03868	-0.823000	0.04550	-6.259000	0.01449	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7613:0.0:0.2387:0.0	13.125	0.58763	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1319.43	33	chr15	81299992	.	G	A	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.53;SOR=0.666	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1331,0,1650	9	0	1	0
chr15	84863589	84863589	A	G	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon11:c.A4448G:p.K1483R	.	429	1088	5	0	0	5	0.00229253	.	.	.	409363	Cardiomyopathy,_familial_hypertrophic_27|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0134123272869	7.7e-05	.	8.368e-05	0	0	0	0	6.063e-05	0	0.0004	7.12e-05	11	154602	rs367667489	7.525e-05	7.593e-05	7.487e-05	7.563e-05	0.0009	6.382e-05	5.938e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	5.935e-05	8.279e-05	0.0004	5.911e-05	5.905e-05	6.425e-05	5.372e-05	0.0001	3.076e-05	2.209e-05	4.766e-05	3.34e-05	0	0	6.533e-05	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.994685	0.42376	D	2.215	0.62545	M	3.15	0.07820	T	-2.9	0.60827	D	0.41	0.45047	-1.1684	0.00571	T	0.058	0.24242	T	10	0.27417237	0.44969	T	0.013412	0.32792	T	0.258	0.56959	.	.	0.363944505237	0.36005	0.4509781744802736	0.45015	0.19089632529	0.21403	0.607100605965	0.53907	T	0.118142	0.43873	T	-0.363026	0.03962	T	-0.437272	0.29114	T	0.20904499521783	0.20903	T	0.812719	0.46458	T	0.58016276	0.71617	0.5809324	0.75709	0.58016276	0.71619	0.5809324	0.75710	-8.277	0.62942	D	.	.	0.085	0.10304	B	.	.	3.800956	0.54768	23.5	0.99887090333759709	0.96204	0.99134	0.91726	D	AEFDBI	0.805588	0.73013	D	0.494316788353411	0.66757	4.991595	0.476053508040557	0.66406	4.948028	0.999999995002839	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	4.68	0.58319	7.031000	0.76223	5.286000	0.48194	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9206:0.0:0.0794:0.0	10.020	0.41207	641	0.64016	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.003788	0.05	1430.43	37	chr15	84863589	.	A	G	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=420;ExcessHet=0;FS=3.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.695;SOR=0.536	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1442,0,1083	9	0	1	0
chr15	85247063	85247063	G	A	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon11:c.G1486A:p.G496S	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951306850	3.525e-05	0.0002	4.338e-05	2.7e-05	0.0004	2.712e-05	2.448e-05	0.0003	0.0002	3.221e-05	9.868e-05	0	0.0004	0.0004	0	9.131e-06	3.384e-05	1.203e-05	0.0002	0.0008	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.388e-05	0.0002	0	0.0002	0	0.0006	0.0004	0	8.957e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	54.43	35	chr15	85247063	.	G	A	54.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=375;ExcessHet=0;FS=20.623;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=33.8;MQRankSum=-4.254;QD=1.43;ReadPosRankSum=-1.131;SOR=4.167	GT:AD:DP:GQ:PL	0/1:31,7:38:66:66,0,731	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/1:74,18:92:19:19,0,1872	5	0	5	0
chr15	88856736	88856792	CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	-	exonic	ACAN	.	nonframeshift deletion	ACAN:NM_001135:exon12:c.4151_4207del:p.D1390_E1408del,ACAN:NM_001369268:exon12:c.4151_4207del:p.D1390_E1408del,ACAN:NM_013227:exon12:c.4151_4207del:p.D1390_E1408del	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	418	1063	5	3	33	44	0.0051474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0.0071	0.0105	0.0106	0.0137	0.0104	0.0103	0.0116	0.0113	0.0126	0.0066	0.0139	0.0044	0.0113	0.0137	0.0107	0.0128	0.0124	0.0187	0.0094	0.0196	0.0177	0.0232	0.0176	0.0172	0.0216	0.0210	0.0152	0.0414	0.0109	0.0233	0.0034	0.0188	0	0.0232	0.0183	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	697.01	34	chr15	88856735	.	GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	G	697.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.027;DP=447;ExcessHet=0;FS=3.143;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=50.07;MQRankSum=-0.974;QD=4.41;ReadPosRankSum=-1.287;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,46:158:99:0|1:88856735_GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA_G:708,0,4032:88856735	8	0	1	1
chr15	88856755	88856755	C	0	exonic	ACAN	.	.	.	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2136.22	97	chr15	88856755	.	C	*	2136.22	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.059;DP=500;ExcessHet=0;FS=9.224;InbreedingCoeff=0.8693;MLEAC=1;MLEAF=0.056;MQ=48.66;MQRankSum=-1.081;QD=16.56;ReadPosRankSum=-0.945;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:4,46:129:99:1|0:88856735_GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA_G:3198,2150,3174:88856735	8	0	1	1
chr15	88856755	88856755	C	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C4170G:p.D1390E,ACAN:NM_001369268:exon12:c.C4170G:p.D1390E,ACAN:NM_013227:exon12:c.C4170G:p.D1390E	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	107	1372	25	2	16	45	0.010458	.	.	.	1683568	not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	.	0.0443291	0	0	0	0	0	0	0	0	0.0094129	245	26028	rs201822759	0.0069	0.0061	0.0067	0.0071	0.0094	0.0068	0.0067	0.0074	0.0073	0.0031	0.0076	0.0062	0.0032	0.0045	0.0094	0.0076	0.0094	0.0033	0.0097	0.0095	0.0110	0.0084	0.0168	0.0091	0.0088	0.0156	0.0151	0.0048	0	0.0073	0.0039	0.0019	0.0014	0.0254	0.0168	0.0076	0.0005	0.137	0.26852	T	0.662	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-3.98	0.96277	D	-0.48	0.21003	N	0.048	0.01999	0.043	0.83110	D	0.738	0.91058	D	9	0.0042357147	0.00085	T	.	.	.	0.258	0.56959	0.349	0.34598	0.117191471859	0.11215	0.02303425850539713	0.02255	0.236098789553	0.26144	0.573864936829	0.49224	T	0.153756	0.49474	T	-0.421962	0.01662	T	-0.377391	0.36028	T	0.00696940099352424	0.00079	T	0.367163	0.11156	T	0.05131588	0.09407	0.031162793	0.01666	0.038783524	0.05234	0.035093628	0.02695	-6.186	0.47809	T	0.12615419190264415	0.12685	0.596	0.69078	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.434138	0.02088	0.195	0.28414234301936492	0.01458	0.01166	0.04198	N	AEFBI	0.057259	0.10651	N	-1.18282007972721	0.05260	0.2393459	-1.38965550116176	0.03361	0.1566345	0.191794391933606	0.18009	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.52	-5.17	0.02632	-3.240000	0.00602	-20.000000	0.00162	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1206:0.2762:0.3565:0.2467	2.086	0.03424	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.076163	0.201220	0.067449	0.075221	0.100000	0.018182	0.065068	0.039370	0.05556	2136.22	97	chr15	88856755	.	C	G	2136.22	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.059;DP=500;ExcessHet=0;FS=9.224;InbreedingCoeff=0.8693;MLEAC=1;MLEAF=0.056;MQ=48.66;MQRankSum=-1.081;QD=16.56;ReadPosRankSum=-0.945;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,79:129:99:1|0:88856735_GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA_G:3198,1021,816:88856735	8	0	1	1
chr15	90271646	90271646	G	A	exonic	NGRN	.	nonsynonymous SNV	NGRN:NM_001033088:exon3:c.G734A:p.R245K	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0005	0.000199681	0.0012	0.0002	8.676e-05	0	0.0121	0.0008	0.0011	0.0005	0.0009832	152	154602	rs139766965	0.0010	0.0010	0.0010	0.0010	0.0026	0.0009	0.0009	0.0016	0.0013	5.974e-05	0.0003	3.826e-05	0	0.0126	0.0026	0.0005	0.0012	0.0012	0.0013	0.0013	0.0008	0.0018	0.0019	0.0011	0.0011	0.0010	0.0007	7.214e-05	0	0	0	0	0.0121	0	0.0008	0.0005	0.0019	0.772	0.03363	T	0.545	0.09588	T	0.454	0.36182	P	0.192	0.36449	B	0.009642	0.30263	U	0.265230	1	0.08975	N	2.125	0.59049	M	1.57	0.29342	T	-0.95	0.25332	N	0.076	0.05037	-1.0371	0.18202	T	0.059	0.24649	T	10	0.0046002567	0.00096	T	.	.	.	0.080	0.23350	.	.	0.428516003163	0.42472	0.13953594312981407	0.13876	0.217715732421	0.24293	0.327599346638	0.14571	T	0.017056	0.13979	T	-0.583122	0.00184	T	-0.614382	0.11632	T	0.0234328498841415	0.01075	T	0.351165	0.07832	T	0.11530309	0.27210	0.039764896	0.04144	0.11530309	0.27210	0.039764896	0.04144	-3.601	0.17871	T	.	.	0.093	0.14015	B	.	.	0.863785	0.12365	8.901	0.9084826343089013	0.20097	0.24148	0.22303	N	AEFDBCI	0.280174	0.39406	N	-0.70900145502624	0.15767	0.7975608	-0.824936000221565	0.13891	0.7230683	0.999990889517722	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	3.97	1.75	0.23707	1.762000	0.38080	0.963000	0.23005	-0.155000	0.11859	0.024000	0.20007	0.000000	0.08366	0.001000	0.02609	0.1112:0.1697:0.719:0.0	7.078	0.24392	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1187.43	42	chr15	90271646	.	G	A	1187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.548;DP=414;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.52;SOR=0.512	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1199,0,1016	9	0	1	0
chr15	98451927	98451927	G	C	exonic	FAM169B	.	nonsynonymous SNV	FAM169B:NM_182562:exon5:c.C268G:p.R90G	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00432867843473	.	.	0.0003	0	0	0	0	3.016e-05	0	0.0020	0.0002264	35	154602	rs373789180	0.0002	0.0002	8.985e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	8.994e-06	0.0003	0.0024	0.0001	0.0001	3.854e-05	0.0002	0.0031	6.507e-05	5.319e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.138	0.25873	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	0.434784	0.12703	N	0.750309	0.999976	0.18612	N	1.095	0.27400	L	0.76	0.49919	T	-3.32	0.66085	D	.	.	-1.0679	0.09880	T	0.082	0.32178	T	10	0.015218526	0.00319	T	0.004329	0.10529	T	0.051	0.14325	0.306	0.27646	0.314417295294	0.31040	0.2315748172177481	0.23072	.	.	0.204185694456	0.00588	T	0.065044	0.32589	T	-0.52549	0.00408	T	-0.53487	0.18803	T	0.0365262432097554	0.03072	T	0.50435	0.15896	T	0.14824797	0.33854	0.16304892	0.37843	0.14824797	0.33853	0.16304892	0.37843	-3.833	0.21298	T	.	.	0.083	0.09045	B	.	.	1.750621	0.22270	15.55	0.9836166445883493	0.40648	0.50089	0.28582	D	AEFDBI	0.181702	0.30902	N	-0.355127603357116	0.27085	1.483188	-0.225703013470798	0.30618	1.726	0.412999902739169	0.20228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.74	0.42108	1.445000	0.34690	8.031000	0.76273	0.676000	0.76740	0.919000	0.31930	1.000000	0.68203	0.090000	0.17789	0.0:0.1603:0.6928:0.1468	9.5	0.38176	980	0.04108	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1285.43	43	chr15	98451927	.	G	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.483;DP=470;ExcessHet=0;FS=2.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.909;SOR=0.522	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1297,0,1085	9	0	1	0
chr15	101701091	101701091	T	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon10:c.A1315T:p.I439L	.	436	1076	8	2	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00900662685794	0.0005	0.00179712	0.0017	0.0003	0.0010	0	0.0003	0.0007	0.0023	0.0084	0.0014942	231	154602	rs150805412	0.0013	0.0013	0.0011	0.0014	0.0076	0.0012	0.0012	0.0071	0.0069	0.0003	0.0004	0.0006	0	0.0003	0.0025	0.0010	0.0007	0.0076	0.0008	0.0009	0.0007	0.0010	0.0079	0.0007	0.0007	0.0059	0.0052	0.0003	0	0.0004	0	0	0.0007	0	0.0009	0.0024	0.0079	0.371	0.11514	T	0.448	0.13030	T	0.11	0.26188	B	0.101	0.30765	B	0.000035	0.55875	N	0.149052	0.999776	0.48980	D	0.66	0.16226	N	-0.25	0.67011	T	-1.37	0.33998	N	0.566	0.58968	-1.0290	0.20778	T	0.140	0.45979	T	10	0.013333887	0.00283	T	0.009007	0.23726	T	0.141	0.37795	0.56	0.67958	0.627559020554	0.62452	0.760070778159569	0.75955	0.0614258353002	0.06845	0.504691362381	0.39482	T	0.036	0.23935	T	-0.348436	0.04826	T	-0.268855	0.47934	T	0.0243839632859361	0.01193	T	0.956004	0.83260	D	0.17933126	0.38999	0.10940309	0.26367	0.17933126	0.38999	0.10940309	0.26366	-7.359	0.56615	T	.	.	0.097	0.15609	B	.;.	.;.	3.249966	0.44396	21.9	0.96731224018496398	0.30888	0.97337	0.74114	D	AEFBI	0.691528	0.65149	D	-0.290047835886278	0.29532	1.638516	-0.117274390366366	0.34693	1.998562	0.608110885658138	0.21781	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.81	3.65	0.40985	5.972000	0.70147	3.412000	0.38196	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1705:0.8295	9.995	0.41065	917	0.20147	Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.002924	0.000000	0.000000	0.006135	0.003788	0.05	433.43	33	chr15	101701091	.	T	A	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=351;ExcessHet=0;FS=4.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.522;SOR=1.718	GT:AD:DP:GQ:PL	0/1:21,18:39:99:445,0,479	9	0	1	0
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	654.39	43	chr16	176808	.	AGAGGT	A	654.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.652;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.62;MQRankSum=0.341;QD=13.63;ReadPosRankSum=0.219;SOR=0.813	GT:AD:DP:GQ:PL	0/1:30,18:48:99:666,0,1164	9	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	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	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.1	3081.14	131	chr16	377699	.	C	G	3081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=937;ExcessHet=0.2348;FS=4.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.462;SOR=0.454	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1600,0,1055	8	0	2	0
chr16	807523	807523	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon2:c.C520T:p.R174C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00464191312179	.	.	0.0001	0	0	0.0018	0	7.614e-05	0	0	4.53e-05	7	154602	rs748597745	1.83e-05	2.463e-05	1.397e-05	2.269e-05	0.0012	1.273e-05	1.082e-05	0.0005	0.0004	6.686e-05	0	0	2.774e-05	0	0.0012	9.134e-06	6.828e-05	3.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003096	0.000000	0.000000	0.008929	0.000000	0.008772	0.003185	0.003846	0.05	437.43	36	chr16	807523	.	C	T	437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.37;DP=310;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-2.093;SOR=0.655	GT:AD:DP:GQ:PL	0/1:22,19:41:99:449,0,440	9	0	1	0
chr16	1094052	1094052	C	T	splicing	C1QTNF8	NM_207419:exon4:c.209-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0758863	0.61556	D	-0.128771	0.61077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.711585	0.75700	26.4	0.98652080221247451	0.44206	0.85995	0.45197	D	AEFDGBHCI	.	.	.	0.910014424485303	0.92242	11.312	0.68865881556364	0.81517	7.545311	0.999541699254384	0.40300	0.056701	0.00814	0	0.063554	0.01753	0	0.065574	0.01856	0	0.079188	0.02158	0	0.749423	0.44574	4.05	4.05	0.46415	4.964000	0.63410	3.225000	0.36875	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.431000	0.27472	0.0:0.8157:0.1843:0.0	11.322	0.48665	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	290.43	34	chr16	1094052	.	C	T	290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.786;DP=326;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=2.03;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,13:26:99:302,0,272	9	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,18:36:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2534,658,506:1397263	2	1	6	1
chr16	2760426	2760426	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon10:c.G959T:p.R320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00681108740823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.63918	T	0.039	0.21116	B	0.012	0.16012	B	0.215212	0.16269	N	0.553031	0.995925	0.23164	N	0.695	0.17993	N	1.74	0.32958	T	-3.01	0.62518	D	0.294	0.36884	-1.0280	0.21103	T	0.032	0.13723	T	10	0.11231384	0.21062	T	0.006811	0.18010	T	0.024	0.04979	0.323	0.30387	0.28722502521	0.28325	0.19099593030126918	0.19017	.	.	0.212344497442	0.00915	T	0.474137	0.80571	T	-0.236502	0.15798	T	-0.577495	0.14770	T	0.215015485882759	0.21212	T	0.791621	0.65830	T	0.2968249	0.52618	0.1742775	0.39813	0.2968249	0.52618	0.1742775	0.39812	-4.834	0.34985	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	1.313350	0.17168	13.00	0.98100578027223229	0.38270	0.55786	0.29952	D	AEFDBCI	0.171002	0.29794	N	-0.784166559855904	0.13722	0.6780635	-0.688331766740628	0.17251	0.9164924	0.999950319922952	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	-0.95	0.09844	0.181000	0.16691	0.818000	0.21820	-0.244000	0.07312	0.978000	0.35038	0.894000	0.27871	0.114000	0.18915	0.5955:0.0:0.4045:0.0	8.691	0.33426	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2353.43	37	chr16	2760426	.	G	T	2353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=499;ExcessHet=0;FS=7.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0;SOR=0.777	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2365,0,1842	9	0	1	0
chr16	3028421	3028421	T	A	exonic	BICDL2	.	nonsynonymous SNV	BICDL2:NM_001103175:exon8:c.A1286T:p.D429V,BICDL2:NM_001369667:exon9:c.A1286T:p.D429V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0809798597216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.052	0.49942	T	1.0	0.90584	D	0.998	0.88582	D	0.714985	0.09983	N	0.865463	0.999994	0.58761	D	.	.	.	0.85	0.47130	T	0.79	0.01893	N	0.763	0.83473	-1.0454	0.15709	T	0.141	0.46016	T	10	0.3108813	0.48562	T	0.08098	0.73581	D	0.242	0.54781	0.189	0.09907	0.559156356702	0.55575	0.5475767344762502	0.54683	0.704991935162	0.61363	0.574794530869	0.49354	T	0.010821	0.09727	T	0.0632676	0.60022	T	-0.146897	0.59519	T	0.884188950061798	0.53441	D	0.835616	0.52235	T	0.12762977	0.29860	0.065613985	0.13325	0.12762977	0.29860	0.065613985	0.13325	-12.538	0.88778	D	.	.	0.823	0.78398	P	.;.;.;.	.;.;.;.	4.711154	0.75686	26.4	0.99110522879920804	0.52725	0.06845	0.12870	N	ALL	0.506590	0.53725	D	0.201094825733281	0.51253	3.307998	0.0910442445476823	0.44095	2.698076	0.999999999999994	0.74766	0.839682	0.99964	0	0.567169	0.20442	1	0.736553	0.94036	0	0.825845	0.99933	0	.	.	4.16	3.05	0.34272	1.980000	0.40241	.	.	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.2181:0.7819	7.574	0.27091	740	0.53092	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	379.43	35	chr16	3028421	.	T	A	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.184;DP=335;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.514;SOR=0.368	GT:AD:DP:GQ:PL	0/1:21,15:36:99:391,0,649	9	0	1	0
chr16	3029732	3029732	C	T	exonic	BICDL2	.	nonsynonymous SNV	BICDL2:NM_001103175:exon5:c.G770A:p.R257H,BICDL2:NM_001369667:exon6:c.G770A:p.R257H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0168049515781	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs762688973	3.127e-05	3.762e-05	1.868e-05	4.418e-05	0.0002	2.356e-05	2.094e-05	0.0002	0.0001	0	0	0	0	0	0	1.764e-05	8.747e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.118	0.28148	T	0.077	0.42436	T	0.013	0.16609	B	0.009	0.14300	B	0.003896	0.34365	N	0.247187	0.981742	0.39811	D	.	.	.	1.53	0.30401	T	-1.34	0.33401	N	0.267	0.31702	-1.0459	0.15563	T	0.053	0.22617	T	10	0.045858294	0.03706	T	0.016805	0.38239	T	0.026	0.05648	0.147	0.05039	0.137902524267	0.13322	0.14613386607773643	0.14535	0.198265135737	0.22201	0.592220842838	0.51808	T	0.008038	0.07400	T	-0.229606	0.16700	T	-0.56759	0.15671	T	0.0588039741821523	0.06978	T	0.768923	0.39853	T	0.09618368	0.22651	0.087753564	0.20419	0.09618368	0.22651	0.087753564	0.20418	-6.82	0.53558	T	.	.	0.098	0.16319	B	.;.;.;.	.;.;.;.	2.678502	0.34935	19.76	0.99256424770342322	0.57055	0.26988	0.23150	N	ALL	0.202697	0.32926	N	-0.542069452453605	0.20732	1.095158	-0.469767241999266	0.22991	1.251567	0.999999999995235	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606735	0.37207	0	0.554799	0.18163	0	.	.	5.14	3.14	0.35196	0.156000	0.16200	.	.	0.549000	0.26987	0.024000	0.20007	0.993000	0.31925	0.424000	0.27317	0.1692:0.7401:0.0:0.0906	6.988	0.23917	744	0.52588	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	355.43	27	chr16	3029732	.	C	T	355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=293;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.58;SOR=1.581	GT:AD:DP:GQ:PL	0/1:10,13:23:99:367,0,208	9	0	1	0
chr16	3141330	3141330	G	A	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon6:c.G1363A:p.A455T,ZNF213:NM_004220:exon6:c.G1363A:p.A455T	.	409	1101	12	0	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00860725341356	0.0013	0.000599042	0.0015	0	0.0018	0	0	0.0021	0.0027	0.0011	0.0013325	206	154602	rs147991342	0.0011	0.0011	0.0011	0.0012	0.0151	0.0011	0.0011	0.0122	0.0112	0.0013	0.0015	0.0198	0	0.0001	0.0151	0.0006	0.0030	0.0012	0.0014	0.0014	0.0012	0.0015	0.0022	0.0012	0.0011	0.0016	0.0014	0.0003	0	0.0022	0.0181	0	0	0.0238	0.0011	0.0066	0.0012	0.0	0.91255	D	0.017	0.62352	D	0.982	0.60036	D	0.715	0.54683	P	0.002126	0.37183	N	0.000000	0.981389	0.39771	D	1.145	0.29067	L	3.48	0.07125	T	-1.13	0.29114	N	0.301	0.37405	-1.0532	0.13520	T	0.025	0.10598	T	10	0.0071959794	0.00164	T	0.008607	0.22755	T	0.117	0.32689	.	.	0.577006569591	0.57369	0.05369935016967154	0.05311	1.27873789098	0.82476	0.670651495457	0.62931	T	0.045	0.27142	T	-0.412016	0.01927	T	-0.389237	0.34640	T	0.0370458097129067	0.03163	T	0.740126	0.35895	T	0.22234738	0.44832	0.19705257	0.43467	0.22234738	0.44832	0.19705257	0.43466	-4.54	0.31408	T	.	.	0.092	0.14062	B	.;.;.;.;.	.;.;.;.;.	4.408633	0.68188	25.2	0.99853275999709379	0.93279	0.47008	0.27887	N	AEFDBI	0.353208	0.44571	N	0.109257060374689	0.46894	2.922898	0.10649131400719	0.44878	2.761277	0.968378495061388	0.29047	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	3.281000	0.51389	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.987	0.79960	744	0.52588	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.010204	0.027174	0.011696	0.050000	0.034483	0.000000	0.011364	0.05	687.43	33	chr16	3141330	.	G	A	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.906;DP=317;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=1.17;SOR=0.557	GT:AD:DP:GQ:PL	0/1:14,27:41:99:699,0,351	9	0	1	0
chr16	3676072	3676072	C	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon6:c.G619A:p.D207N,TRAP1:NM_016292:exon7:c.G778A:p.D260N	.	425	1096	1	0	0	1	0.000455996	.	.	.	1925135	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.561	0.0607499243738	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0001	0.0001229	19	154602	rs776753733	6.5e-05	6.567e-05	5.854e-05	7.152e-05	0.0004	5.429e-05	5.042e-05	0.0002	0.0002	5.974e-05	0.0004	0.0013	0	0	0	1.799e-05	0.0002	0.0001	5.915e-05	5.91e-05	6.425e-05	5.38e-05	0.0001	3.078e-05	2.21e-05	2.261e-05	9.07e-06	0	0	0.0001	0.0014	0	0	0	2.94e-05	0	0	0.132	0.26965	T	0.106	0.43913	T	0.932	0.51990	P	0.532	0.48601	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	-1.18	0.78314	T	-3.81	0.71882	D	0.68	0.68690	0.094	0.84070	D	0.498	0.81019	T	10	0.25667614	0.43074	T	0.06075	0.68106	D	0.561	0.82003	0.533	0.64148	0.891800763395	0.89072	0.6779650751693294	0.67735	0.123648921173	0.13916	0.543256044388	0.44906	T	0.281984	0.65472	T	-0.231229	0.16485	T	-0.263944	0.48430	T	0.340692728757858	0.26651	T	0.932007	0.87909	D	0.6210168	0.73818	0.31087998	0.57096	0.6210168	0.73819	0.31087998	0.57096	-8.065	0.63311	D	0.3127544019079691	0.41069	0.095	0.24088	B	.;.;.;.	.;.;.;.	4.504978	0.70489	25.5	0.99850710191348224	0.93013	0.99669	0.98513	D	AEFBI	0.927662	0.91069	D	0.529295901083716	0.68830	5.271549	0.552718449188364	0.71585	5.677548	0.999999999310552	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.505000	0.80519	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:1.0:0.0:0.0	18.346	0.90263	637	0.64373	Heat shock protein Hsp90, N-terminal|Histidine kinase/HSP90-like ATPase;Heat shock protein Hsp90, N-terminal;.;Heat shock protein Hsp90, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	36	chr16	3676072	.	C	T	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.389;DP=435;ExcessHet=0;FS=4.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.671;SOR=0.992	GT:AD:DP:GQ:PL	0/1:29,44:73:99:1054,0,592	9	0	1	0
chr16	5033360	5033360	A	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon2:c.T455C:p.V152A	.	418	1097	7	0	0	7	0.00318037	.	.	.	2347270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0297701984017	0.0005	.	0.0004	0.0003	9.414e-05	0	0.0006	0.0005	0	0.0002	0.0002458	38	154602	rs189630368	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	2.99e-05	0.0001	3.831e-05	0	0.0005	0.0037	0.0002	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	0.0002	0	0	0.0009	0.0068	0.0004	0.0009	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.982	0.60036	D	0.82	0.59072	P	0.010597	0.29863	N	0.321361	0.579819	0.31109	N	2.27	0.64531	M	1.27	0.36146	T	-3.5	0.68178	D	0.285	0.42443	-0.8085	0.54641	T	0.130	0.43989	T	10	0.12089977	0.22909	T	0.02977	0.52214	D	0.099	0.28413	.	.	0.36453787251	0.36064	0.7888937185436866	0.78841	0.892434076993	0.70274	0.714099824429	0.69187	T	0.725599	0.92279	D	-0.350144	0.04718	T	-0.393563	0.34135	T	0.0808357773658808	0.10093	T	0.893711	0.63166	D	0.43018097	0.62764	0.48477352	0.70176	0.43018097	0.62765	0.48477352	0.70176	-9.552	0.71684	D	.	.	0.440	0.67013	A	.;.	.;.	4.937271	0.81456	27.6	0.99688983829227673	0.79775	0.51418	0.28891	D	AEFDGBCI	0.637318	0.61615	D	0.126779434557327	0.47715	2.993331	0.191742262020659	0.49392	3.143062	0.999999999814813	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.77	3.65	0.40985	6.677000	0.74337	7.864000	0.71599	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.8982:0.0:0.1018:0.0	7.876	0.28760	867	0.32089	Phosphodiester glycosidase;.	.	.	.	.	.	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	0.001013	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.000000	0.05	778.43	34	chr16	5033360	.	A	G	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.09;DP=469;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.38;SOR=0.506	GT:AD:DP:GQ:PL	0/1:60,37:97:99:790,0,1544	9	0	1	0
chr16	5071868	5071868	G	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_019109:exon1:c.G19A:p.V7I	Congenital disorder of glycosylation, type Ik, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	190586	ALG1-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0297585964628	0.0002	0.000599042	0.0008	0	0	0	0	0	0.0033	0.0050	0.0004981	77	154602	rs199891552	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	4.513e-05	0	0	0	0	1.171e-05	0.0002	0.0037	9.845e-05	9.842e-05	5.138e-05	0.0001	0.0031	6e-05	4.874e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.536	0.06891	T	0.599	0.13912	T	0.039	0.21116	B	0.037	0.23121	B	0.318569	0.14310	N	0.690501	1	0.25535	N	0.695	0.17993	N	-1.02	0.76300	T	-0.07	0.08033	N	0.134	0.13055	-0.9316	0.43903	T	0.233	0.59928	T	10	0.0046248436	0.00096	T	0.029759	0.52206	D	0.105	0.29889	.	.	0.564579235405	0.56121	0.4385728961308984	0.43774	0.0537900202015	0.05943	0.519137382507	0.41504	T	0.051579	0.38083	T	-0.533448	0.00367	T	-0.539182	0.18376	T	0.0220379647184601	0.00914	T	0.49905	0.15565	T	0.043572053	0.06815	0.05113512	0.08168	0.049974255	0.08955	0.048931487	0.07371	-5.791	0.44496	T	.	.	0.101	0.25000	B	.;.	.;.	0.856501	0.12288	8.829	0.9660720671041777	0.30430	0.20730	0.21148	N	ALL	0.056261	0.10386	N	-0.926603107676463	0.10223	0.4875051	-0.89870022907482	0.12125	0.6218702	0.999999999996993	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.81	3.83	0.43287	0.425000	0.21065	0.952000	0.22930	0.676000	0.76740	0.047000	0.21291	0.002000	0.18203	0.001000	0.02609	0.0:0.1893:0.8107:0.0	10.980	0.46702	873	0.30802	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	708.43	33	chr16	5071868	.	G	A	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=374;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.008;SOR=1.244	GT:AD:DP:GQ:PL	0/1:30,26:56:99:720,0,710	9	0	1	0
chr16	10690003	10690003	T	C	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon2:c.A587G:p.H196R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0029	0.00499201	0.0012	0.0129	0.0005	0	0	0	0	0.0001	0.0011255	174	154602	rs16957546	0.0003	0.0003	0.0004	0.0003	0.0121	0.0003	0.0003	0.0112	0.0108	0.0121	0.0005	0	0	0	0.0002	2.698e-06	0.0008	9.275e-05	0.0032	0.0032	0.0035	0.0028	0.0111	0.0029	0.0028	0.0103	0.0099	0.0111	0	0.0011	0	0	0	0	0	0.0024	0	0.003	0.68238	D	0.026	0.55759	D	0.421	0.35387	B	0.285	0.40506	B	0.112711	0.19346	N	0.507607	0.989031	0.40874	D	2.955	0.85029	M	4.27	0.02513	T	-5.2	0.83695	D	0.445	0.48319	-0.9777	0.35526	T	0.010	0.03719	T	10	0.014206141	0.00299	T	.	.	.	0.182	0.45420	.	.	0.365120060079	0.36123	0.11320244772976647	0.11248	0.105241229832	0.11901	0.393124192953	0.24109	T	0.034767	0.23454	T	-0.423727	0.01620	T	-0.3704	0.36841	T	0.119658994800533	0.14397	T	0.885811	0.61165	D	0.54228234	0.69524	0.67735606	0.81051	0.54228234	0.69525	0.67735606	0.81051	-7.71	0.59077	D	.	.	0.129	0.27493	B	.	.	2.555650	0.33087	19.24	0.96489449216890011	0.30002	0.93283	0.57804	D	AEFDBI	0.388852	0.46830	N	-0.113483654662047	0.36805	2.132436	-0.115744538101239	0.34754	2.002793	0.705011130549052	0.22747	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	1.45	0.21708	3.755000	0.54910	.	.	0.665000	0.62972	1.000000	0.71638	0.957000	0.29195	0.994000	0.71098	0.4244:0.0:0.0:0.5756	9.111	0.35889	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1486.43	35	chr16	10690003	.	T	C	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=435;ExcessHet=0;FS=2.352;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.986;SOR=0.889	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1498,0,1192	9	0	1	0
chr16	11276306	11276306	T	C	exonic	PRM2	.	nonsynonymous SNV	PRM2:NM_001286356:exon1:c.A65G:p.H22R,PRM2:NM_001286357:exon1:c.A65G:p.H22R,PRM2:NM_001286358:exon1:c.A65G:p.H22R,PRM2:NM_001286359:exon1:c.A65G:p.H22R,PRM2:NM_002762:exon1:c.A65G:p.H22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00257243412909	0.0004	.	0.0001	0.0015	8.652e-05	0	0	0	0	0	0.0001035	16	154602	rs377324170	4.925e-05	4.925e-05	5.853e-05	3.988e-05	0.0013	3.992e-05	3.669e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0007	0	0.0002	3.478e-05	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0.0005	0	0.086	0.36709	T	0.724	0.08565	T	0.192	0.29441	B	0.058	0.26451	B	0.005124	0.01063	N	3.254830	1	0.08975	N	1.245	0.31408	L	.	.	.	-3.38	0.70067	D	0.102	0.08925	-0.9702	0.37157	T	0.077	0.30951	T	9	0.013729751	0.00290	T	0.002572	0.05178	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.0036730929382603485	0.00343	0.162832045209	0.18381	.	.	.	0.576848	0.86080	D	-0.62128	0.00108	T	-0.68983	0.06399	T	0.0408391603678381	0.03843	T	0.335166	0.07140	T	0.10661738	0.25209	0.15532127	0.36414	0.10661738	0.25209	0.15532127	0.36413	-4.074	0.24905	T	.	.	0.107	0.24901	B	.;.	.;.	-0.121801	0.03515	0.665	0.50650105206601959	0.04422	0.02750	0.07434	N	AEFDBI	0.035718	0.04644	N	-1.14326747422954	0.05891	0.2697807	-1.25395989552805	0.05072	0.2408481	0.861160779439901	0.25228	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.06	-2.63	0.05775	-0.508000	0.06426	-1.007000	0.06626	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.7437:0.2563	11.238	0.48183	911	0.21964	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1849.43	40	chr16	11276306	.	T	C	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.45;DP=555;ExcessHet=0;FS=1.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.034;SOR=0.789	GT:AD:DP:GQ:PL	0/1:100,84:184:99:1861,0,2499	9	0	1	0
chr16	11399522	11399522	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon52:c.C7711T:p.L2571F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	.	.	.	0	.	.	0.0004226	11	26028	rs193240490	0.0003	0.0002	0.0003	0.0002	0.0070	0.0002	0.0002	0.0054	0.0049	0.0070	0.0007	0	0	0	0.0008	1.265e-05	0.0005	0	0.0014	0.0014	0.0015	0.0013	0.0048	0.0013	0.0012	0.0043	0.0041	0.0048	0	0.0006	0	0	0	0.0034	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049799383	0.00107	T	.	.	.	.	.	.	.	0.33440975612	0.33058	.	.	.	.	.	.	.	.	.	.	-0.579492	0.00194	T	-0.605458	0.12356	T	.	.	.	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.42126	B	.	.	1.761629	0.22409	15.61	0.51604943166518968	0.04593	0.04119	0.09594	N	AEFDBI	0.032430	0.03660	N	.	.	.	.	.	.	0.943257679567991	0.27560	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.94	2.96	0.33383	1.089000	0.30501	1.183000	0.24710	0.520000	0.23804	0.090000	0.22578	0.012000	0.20211	0.003000	0.05239	0.136:0.0:0.864:0.0	6.979	0.23870	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1040.43	34	chr16	11399522	.	G	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=402;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.04;SOR=0.968	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1052,0,754	9	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:81,45:156:93:93,0,1239	0	0	10	0
chr16	15092583	15092583	A	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon2:c.T121A:p.F41I,RRN3:NM_018427:exon2:c.T121A:p.F41I	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.1119176956	0.0009	0.000399361	0.0011	9.654e-05	0.0004	0	0.0032	0.0013	0.0033	0.0012	0.0009702	150	154602	rs150087182	0.0013	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0014	0.0014	5.977e-05	0.0006	0	0	0.0025	0.0012	0.0014	0.0010	0.0016	0.0009	0.0009	0.0009	0.0009	0.0017	0.0008	0.0008	0.0012	0.0011	7.213e-05	0	0.0003	0	0	0.0028	0	0.0014	0	0.0017	0.066	0.58626	T	0.016	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000033	0.55875	U	0.073760	1	0.81001	D	0.695	0.17993	N	0.78	0.64818	T	-1.42	0.46146	N	0.665	0.72299	-0.7596	0.57427	T	0.246	0.61506	T	10	0.018967181	0.00418	T	0.111918	0.78987	D	0.267	0.58126	.	.	0.729076668298	0.72667	0.6555393035927279	0.65489	0.82004380944	0.67116	0.568011641502	0.48396	T	0.129067	0.45712	T	-0.259441	0.12965	T	-0.15223	0.59046	T	0.0541908414942471	0.06222	T	0.834417	0.50357	T	0.13936517	0.32196	0.09549961	0.22653	0.13936517	0.32196	0.09549961	0.22653	-3.409	0.17467	T	.	.	0.161	0.35540	B	.;.;.;.;.	.;.;.;.;.	4.095015	0.61022	24.3	0.98562150874574928	0.42986	0.98806	0.87096	D	AEBI	0.822867	0.74310	D	0.247532225416644	0.53517	3.520188	0.267095466191024	0.53627	3.530811	0.999999981709966	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.651492	0.60203	0	.	.	3.78	3.78	0.42629	7.440000	0.79607	7.917000	0.74325	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	12.014	0.52594	588	0.69043	.;.;.;.;.	.	.	.	.	.	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	0.001825	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.008547	0.1	1672.14	37	chr16	15092583	.	A	T	1672.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.821;DP=432;ExcessHet=0.2348;FS=1.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.96;MQRankSum=-0.214;QD=11.45;ReadPosRankSum=0.878;SOR=0.576	GT:AD:DP:GQ:PL	0/1:39,30:69:99:704,0,1128	8	0	2	0
chr16	20564784	20564784	C	T	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon2:c.G62A:p.R21H,ACSM2B:NM_182617:exon3:c.G62A:p.R21H	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0036	0.0105831	0.0061	0.0119	0.0019	0.0058	0	0.0001	0.0090	0.0330	0.0052587	813	154602	rs141648973	0.0025	0.0025	0.0017	0.0033	0.0303	0.0024	0.0024	0.0294	0.0290	0.0123	0.0013	3.833e-05	0.0029	3.746e-05	0.0024	0.0001	0.0036	0.0303	0.0050	0.0050	0.0046	0.0054	0.0324	0.0047	0.0046	0.0283	0.0267	0.0129	0	0.0014	0	0.0039	0	0	8.824e-05	0.0076	0.0324	0.557	0.12265	T	0.464	0.12456	T	0.006	0.13644	B	0.002	0.06944	B	0.722540	0.09923	N	0.849759	1	0.08975	N	0.795	0.19620	N	0.9	0.49642	T	-0.57	0.28497	N	0.132	0.12770	-1.0316	0.19937	T	0.036	0.15378	T	10	0.0035841167	0.00065	T	.	.	.	0.024	0.04979	.	.	0.0884992946249	0.08302	0.24355194033462457	0.24269	1.23226462855	0.81389	0.194776266813	0.00321	T	0.004894	0.13521	T	-0.617153	0.00114	T	-0.636277	0.09943	T	0.000585343836572509	0.00005	T	0.537046	0.18049	T	0.01967222	0.00502	0.022098666	0.00242	0.01967222	0.00502	0.022098666	0.00242	-7.484	0.57498	T	.	.	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.362894	0.02354	0.256	0.41013316800886629	0.02931	0.00807	0.03278	N	AEFDI	0.083778	0.16974	N	-1.44741600549109	0.02237	0.09857287	-1.50840160827983	0.02279	0.1045679	5.52791813574922E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	0.108	0.13853	-0.983000	0.03869	-9.991000	0.00752	-1.537000	0.00985	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.225:0.5133:0.0:0.2617	2.689	0.04799	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	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	0.006105	0.000000	0.002740	0.004386	0.000000	0.000000	0.008065	0.025641	0.05	1308.43	68	chr16	20564784	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.502;DP=489;ExcessHet=0;FS=9.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.42;MQRankSum=-1.58;QD=11;ReadPosRankSum=0.525;SOR=0.474	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1320,0,1608	9	0	1	0
chr16	22326024	22326024	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon17:c.C1504T:p.R502W,POLR3E:NM_001258035:exon17:c.C1504T:p.R502W,POLR3E:NM_001258033:exon18:c.C1612T:p.R538W,POLR3E:NM_001258036:exon18:c.C1612T:p.R538W,POLR3E:NM_018119:exon18:c.C1612T:p.R538W	.	391	1129	2	0	0	2	0.000884956	.	.	.	1693676	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0461825859521	.	0.00119808	0.0015	0.0002	0	0	0	9.296e-05	0.0053	0.0098	0.0008797	136	154602	rs533624898	0.0005	0.0005	0.0002	0.0008	0.0077	0.0005	0.0005	0.0073	0.0071	6.02e-05	2.296e-05	0	2.539e-05	1.905e-05	0	4.077e-05	0.0004	0.0077	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0.0001	0	0	0	0.0006	0	0	1.471e-05	0.0005	0.0077	0.007	0.61437	D	0.015	0.63109	D	0.001	0.07471	B	0.0	0.01387	B	0.029341	0.25470	N	0.395100	0.90046	0.27710	N	1.87	0.49600	L	0.88	0.46028	T	-1.11	0.39314	N	0.221	0.30118	-0.9388	0.42806	T	0.106	0.38587	T	10	0.006664157	0.00151	T	0.046183	0.62338	D	0.159	0.41286	.	.	0.528009843598	0.52448	0.31375258403133427	0.31288	0.408029708176	0.41652	0.342003673315	0.16738	T	0.030945	0.28093	T	-0.497565	0.00590	T	-0.482788	0.24150	T	0.0855307276114552	0.10679	T	.	.	.	0.04962091	0.08839	0.048397217	0.07179	0.04962091	0.08839	0.048397217	0.07179	-6.908	0.53484	T	.	.	0.094	0.19760	B	.;.;.;.;.	.;.;.;.;.	2.899614	0.38424	20.7	0.99516871357251213	0.68979	0.80796	0.40343	D	AEFDBCI	0.464163	0.51277	N	-0.26839362028351	0.30375	1.693154	-0.193051490926998	0.31790	1.802455	0.918657274524362	0.26578	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.14	4.19	0.48645	0.609000	0.23935	-0.243000	0.10574	0.599000	0.40250	0.998000	0.41325	0.191000	0.23496	0.019000	0.11356	0.2857:0.6282:0.0:0.0861	6.941	0.23669	457	0.78953	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	945.43	34	chr16	22326024	.	C	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=403;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.908;SOR=0.826	GT:AD:DP:GQ:PL	0/1:35,40:75:99:957,0,868	9	0	1	0
chr16	23491719	23491719	C	T	exonic	GGA2	.	nonsynonymous SNV	GGA2:NM_015044:exon5:c.G433A:p.D145N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0194632546168	0.0004	.	0.0003	0	0	0.0003	0	0.0003	0.0011	0.0008	0.0002587	40	154602	rs79515799	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0007	0.0006	0	0	0.0030	0.0002	0	0.0003	2.97e-05	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0037	0.0008	0	0	0.0001	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.959	0.70163	D	0.000007	0.62929	D	0.107611	0.992291	0.41606	D	1.04	0.26193	L	1.98	0.21865	T	-2.2	0.50175	N	0.509	0.54059	-1.1049	0.03547	T	0.110	0.39627	T	10	0.02393055	0.00642	T	0.019463	0.41828	T	0.221	0.51721	.	.	0.343101102393	0.33919	0.22697049938700994	0.22612	0.570514662331	0.53208	0.539447844028	0.44368	T	0.172723	0.52133	T	-0.429753	0.01487	T	-0.487494	0.23652	T	0.120279175227937	0.14458	T	0.953605	0.82243	D	0.61281925	0.73379	0.44701883	0.67796	0.61281925	0.73380	0.44701883	0.67796	-9.228	0.69153	D	.	.	0.177	0.38693	B	.;.	.;.	5.070414	0.84568	28.3	0.99907809289676297	0.97801	0.92064	0.54865	D	AEFDGBCI	0.746992	0.68919	D	0.669649082486863	0.77645	6.714806	0.677715323892243	0.80690	7.355278	0.999999999976938	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.48	5.48	0.80675	6.046000	0.70661	7.506000	0.59554	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.854	0.85866	323	0.86843	VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1482.43	43	chr16	23491719	.	C	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=514;ExcessHet=0;FS=9.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.126;SOR=0.522	GT:AD:DP:GQ:PL	0/1:89,68:157:99:1494,0,2099	9	0	1	0
chr16	25224417	25224417	T	C	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.T443C:p.V148A	.	423	1097	1	1	0	3	0.0013655	.	.	.	3286076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.0699501388821	.	.	0.0001	0	0	0	0	3.005e-05	0	0.0007	9.06e-05	14	154602	rs773838747	7.114e-05	7.114e-05	4.628e-05	9.626e-05	0.0008	5.98e-05	5.588e-05	0.0006	0.0006	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.003	0.68238	D	0.051	0.48855	T	0.722	0.42387	P	0.42	0.45080	B	0.051732	0.22956	N	0.497847	0.97972	0.25162	N	1.745	0.45235	L	-2.05	0.85799	D	-2.13	0.48354	N	0.458	0.49783	-0.2295	0.76900	T	0.531	0.82583	D	10	0.31427723	0.48870	T	0.06995	0.70871	D	0.394	0.70924	0.423	0.46693	0.912223512337	0.91134	0.8354200535952137	0.83502	0.722490668574	0.62282	0.450436472893	0.32003	T	0.389704	0.75007	T	-0.267845	0.11997	T	-0.254924	0.49329	T	0.230829883937955	0.21991	T	0.715628	0.32820	T	0.19639854	0.41465	0.27284893	0.53199	0.19639854	0.41465	0.27284893	0.53198	-6.11	0.47190	T	.	.	0.427	0.61020	A	.;.	.;.	2.686919	0.35067	19.80	0.99384722183372809	0.62068	0.94517	0.61421	D	AEFDBI	0.726972	0.67546	D	0.22767316379507	0.52544	3.427905	0.25245756503039	0.52788	3.451421	0.999753282966633	0.42595	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.834000	0.69064	7.694000	0.65937	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.0:0.0:1.0	13.293	0.59715	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	738.43	33	chr16	25224417	.	T	C	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=378;ExcessHet=0;FS=3.437;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.449;SOR=0.34	GT:AD:DP:GQ:PL	0/1:34,32:66:99:750,0,811	9	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	700.3	110	chr16	29485668	.	C	*	700.3	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.202;DP=1076;ExcessHet=7.0302;FS=13.803;InbreedingCoeff=-0.6;MLEAC=5;MLEAF=0.278;MQ=29.59;MQRankSum=-0.241;QD=0.96;ReadPosRankSum=-2.645;SOR=0.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,27:89:99:1|0:29485610_ACACACTC_A:917,0,2388:29485610	4	0	5	1
chr16	30112751	30112751	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon3:c.G225C:p.Q75H	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	7.7e-05	0.0161741	0.0079	0	0.0008	0	0	3.053e-05	0.0112	0.0558	0.0068757	1063	154602	rs375485050	0.0034	0.0034	0.0019	0.0050	0.0545	0.0033	0.0033	0.0532	0.0527	0.0002	0.0001	3.827e-05	0.0002	0	0.0021	3.957e-05	0.0035	0.0545	0.0019	0.0020	0.0010	0.0029	0.0600	0.0018	0.0017	0.0543	0.0521	0.0001	0	0	0	0.0002	0	0	0	0	0.0600	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000493	0.43931	N	0.239919	0.793514	0.29198	N	0.11	0.08516	N	2.64	0.12780	T	3.8	0.00066	N	0.221	0.24758	-0.9536	0.40345	T	0.017	0.06855	T	10	0.004280716	0.00086	T	.	.	.	0.063	0.18251	0.625	0.76028	0.223847106136	0.22009	0.8072162313784973	0.80676	0.19774465149	0.22142	0.309840738773	0.11883	T	0.003442	0.02849	T	-0.632709	0.00092	T	-0.642143	0.09514	T	0.000650241616935696	0.00006	T	0.878012	0.59262	D	0.079382144	0.18133	0.05962705	0.11224	0.079382144	0.18132	0.05962705	0.11223	-4.357	0.28968	T	.	.	0.166	0.36653	B	.	.	0.355082	0.07282	3.886	0.62003030266386105	0.06852	0.22976	0.21925	N	AEFDGBHCI	0.120741	0.23506	N	-0.756391999931643	0.14460	0.7204837	-0.625564516550365	0.18837	1.00806	0.999999999954965	0.74766	0.653496	0.48692	0	0.858003	0.99906	0	0.535252	0.11790	0	0.683535	0.66460	0	.	.	5.57	0.963	0.18769	0.009000	0.13117	-0.510000	0.08751	-0.217000	0.08171	0.978000	0.35038	0.031000	0.21272	0.524000	0.29567	0.2936:0.4213:0.2851:0.0	8.196	0.30556	140	0.94439	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.026515	0.1	2392.14	39	chr16	30112751	.	C	G	2392.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.751;DP=501;ExcessHet=0.2348;FS=0.519;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.72;SOR=0.641	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1003,0,1200	8	0	2	0
chr16	31077897	31077897	G	A	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G1573A:p.G525R	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00299521	0.0011	0	0	0	0	7.602e-05	0.0011	0.0073	0.0009444	146	154602	rs112578158	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0069	0.0067	0	0	0	0	0	0	4.227e-05	0.0004	0.0073	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0068	0.045	0.41364	D	0.342	0.17910	T	0.399	0.34817	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	3.09	0.08371	T	-0.51	0.16187	N	0.177	0.19055	-0.9909	0.32373	T	0.016	0.06569	T	9	0.004032612	0.00078	T	.	.	.	0.067	0.19503	0.74	0.87232	0.40017627803	0.39633	0.3702817578439055	0.36942	0.2283133954	0.25380	0.421809971333	0.28086	T	0.017785	0.14448	T	-0.551516	0.00286	T	-0.561266	0.16258	T	0.0249082750788943	0.01261	T	0.670133	0.27879	T	0.05697767	0.11281	0.07399483	0.16140	0.05697767	0.11281	0.07399483	0.16140	-3.611	0.18016	T	.	.	0.129	0.27493	B	.;.	.;.	2.183015	0.27831	17.59	0.87846659357382451	0.17525	0.21674	0.21485	N	AEFBHCI	0.049231	0.08484	N	-0.631682770635591	0.17997	0.9308802	-0.661231870052596	0.17934	0.955801	0.999897185101	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.96	4.01	0.45821	0.695000	0.25205	.	.	0.590000	0.31872	0.000000	0.06391	1.000000	0.68203	0.028000	0.12845	0.0863:0.1603:0.7534:0.0	8.076	0.29882	41	0.97903	.;.	.	.	.	.	.	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	0.05	1511.43	66	chr16	31077897	.	G	A	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=538;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.768;SOR=0.777	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1523,0,1718	9	0	1	0
chr16	31397883	31397883	T	A	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon5:c.T401A:p.I134N,ITGAD:NM_005353:exon5:c.T401A:p.I134N	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00699941695777	.	0.00119808	0.0008	0	9.705e-05	0	0	1.704e-05	0.0026	0.0056	0.0006015	93	154602	rs369894184	0.0003	0.0003	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	0	0	0	2.519e-05	0	0.0002	2.698e-06	0.0003	0.0042	0.0002	0.0002	0.0001	0.0002	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.529	0.07048	T	0.493	0.11443	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	0.29	0.58897	T	-1.8	0.42384	N	0.443	0.48134	-1.0194	0.23910	T	0.080	0.31675	T	9	0.0077854395	0.00177	T	0.006999	0.18541	T	0.098	0.28162	0.421	0.46365	0.503002171853	0.49937	0.4777305572066261	0.47693	0.385522231829	0.39847	0.378395617008	0.22028	T	0.077179	0.35594	T	-0.416604	0.01799	T	-0.371207	0.36748	T	0.0187435969717741	0.00586	T	0.435056	0.11905	T	0.1496252	0.34101	0.11909284	0.28747	0.1496252	0.34101	0.11909284	0.28746	-6.095	0.47068	T	.	.	0.128	0.27161	B	.	.	0.537579	0.09061	5.845	0.85749612160188893	0.16088	0.03484	0.08648	N	AEFDBHI	0.053873	0.09747	N	-0.61861189912111	0.18386	0.9541069	-0.76586787208219	0.15333	0.8058877	0.0329869229104962	0.14083	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.71	1.21	0.20240	-0.422000	0.07110	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.3334:0.1231:0.0:0.5435	2.805	0.05094	454	0.79125	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	523.43	34	chr16	31397883	.	T	A	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.846;DP=370;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.75;SOR=0.568	GT:AD:DP:GQ:PL	0/1:23,27:50:99:535,0,500	9	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	314.43	34	chr16	50669118	.	A	G	314.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.867;DP=999;ExcessHet=0.7463;FS=107.622;InbreedingCoeff=-0.1756;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.77;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,20:164:77:0|1:50669118_A_G:77,0,5305:50669118	7	0	3	0
chr16	57771356	57771356	G	C	exonic	KIFC3	.	nonsynonymous SNV	KIFC3:NM_001318712:exon4:c.C301G:p.L101V,KIFC3:NM_001318713:exon4:c.C190G:p.L64V,KIFC3:NM_001130099:exon5:c.C190G:p.L64V,KIFC3:NM_001130100:exon6:c.C607G:p.L203V,KIFC3:NM_001318710:exon6:c.C673G:p.L225V,KIFC3:NM_001318711:exon6:c.C433G:p.L145V,KIFC3:NM_001318715:exon6:c.C190G:p.L64V,KIFC3:NM_005550:exon6:c.C607G:p.L203V,KIFC3:NM_001318714:exon7:c.C190G:p.L64V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0176634608374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.91255	T	0.293	0.92824	T	0.873	0.47975	P	0.23	0.39216	B	0.041718	0.23920	N	0.359785	0.98161	0.25027	N	2.015	0.55033	M	-0.76	0.74371	T	-0.42	0.56466	N	0.165	0.17691	-0.8366	0.52871	T	0.234	0.60014	T	10	0.17906025	0.33021	T	0.017663	0.39446	T	0.164	0.42212	0.087	0.00904	0.790080094647	0.78813	0.13158560820035356	0.13083	0.547987055301	0.51764	0.491642951965	0.37666	T	0.029959	0.25569	T	-0.0162197	0.49391	T	-0.261075	0.48718	T	0.191470520648698	0.19931	T	0.826617	0.51841	T	0.061735123	0.12818	0.06564899	0.13335	0.061735123	0.12817	0.06564899	0.13335	-5.127	0.41197	T	.	.	0.075	0.20430	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.771572	0.36384	20.2	0.98902240270608033	0.48217	0.84864	0.43957	D	AEFDGBCI	0.549943	0.56262	D	0.0928942857126204	0.46132	2.858357	0.167957563813894	0.48101	3.030693	0.999995479296454	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.35	4.4	0.52402	1.233000	0.32250	5.646000	0.49166	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0819:0.0:0.7596:0.1586	7.923	0.29019	823	0.40596	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1862.43	38	chr16	57771356	.	G	C	1862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.515;DP=500;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.65;SOR=0.825	GT:AD:DP:GQ:PL	0/1:65,80:145:99:1874,0,1556	9	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1196.74	37	chr16	57813723	.	T	*	1196.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.254;DP=514;ExcessHet=0.7463;FS=3.452;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.73;ReadPosRankSum=0.44;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,23:49:99:0|1:57813722_ATG_A:888,0,1023:57813722	8	0	2	0
chr16	67230180	67230180	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon20:c.G3100T:p.V1034F,FHOD1:NM_001318202:exon22:c.G3178T:p.V1060F	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.014377	0.0097	0.0007	0.0006	0.0017	0	1.501e-05	0.0055	0.0686	0.0082664	1278	154602	rs146514223	0.0039	0.0039	0.0022	0.0056	0.0622	0.0038	0.0038	0.0608	0.0602	0.0003	8.944e-05	3.826e-05	0.0016	0	0.0017	2.878e-05	0.0044	0.0622	0.0021	0.0021	0.0011	0.0032	0.0578	0.0019	0.0019	0.0522	0.0500	0.0004	0	0.0003	0	0.0035	0	0	1.47e-05	0.0024	0.0578	0.126	0.27194	T	0.283	0.21478	T	0.542	0.37927	P	0.22	0.37792	B	0.101882	0.19818	N	0.542263	0.964308	0.39981	D	2.52	0.73523	M	1.22	0.37052	T	-1.45	0.35597	N	0.405	0.44570	-1.0654	0.10456	T	0.081	0.32119	T	10	0.0030546486	0.00050	T	.	.	.	0.049	0.13647	.	.	0.647617134539	0.64469	0.2737673664105686	0.27289	0.364620806895	0.38079	0.469140261412	0.34561	T	0.038751	0.24948	T	-0.47986	0.00740	T	-0.412595	0.31926	T	0.00336669596313559	0.00035	T	0.678032	0.28700	T	0.09554652	0.22489	0.0645615	0.12958	0.09554652	0.22489	0.0645615	0.12957	-5.17	0.38635	T	.	.	0.102	0.18080	B	.	.	2.729566	0.35726	19.97	0.98811672444758258	0.46623	0.97873	0.77771	D	AEFGBCI	0.424698	0.48976	N	-0.0940516455453432	0.37654	2.193736	-0.0723755983642936	0.36536	2.127577	0.999984130125693	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.33	2.26	0.27418	0.700000	0.25278	-0.056000	0.12484	0.599000	0.40250	0.868000	0.30757	0.063000	0.22074	0.773000	0.36634	0.0:0.7242:0.0:0.2758	7.254	0.25343	25	0.98345	Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.030303	0.05	1582.43	33	chr16	67230180	.	C	A	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.863;DP=437;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.507;SOR=0.83	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1594,0,1516	9	0	1	0
chr16	67266201	67266201	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323972:exon14:c.G1891A:p.V631I,SLC9A5:NM_001323973:exon15:c.G2191A:p.V731I,SLC9A5:NM_001323974:exon15:c.G1306A:p.V436I,SLC9A5:NM_001323975:exon15:c.G1309A:p.V437I,SLC9A5:NM_004594:exon15:c.G2194A:p.V732I	.	.	.	.	.	.	.	.	.	.	.	3606895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00619597294615	.	.	8.29e-05	0.0001	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs760420354	2.75e-05	2.873e-05	1.368e-05	4.147e-05	0.0004	2.073e-05	1.825e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.326e-05	0.0004	2.626e-05	2.624e-05	1.285e-05	4.028e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0.0005	0.0006	0.325	0.13349	T	0.251	0.23638	T	0.012	0.16265	B	0.002	0.06944	B	0.231472	0.15911	N	0.579610	0.992844	0.23815	N	0.345	0.11182	N	0.5	0.55608	T	-0.32	0.12283	N	0.242	0.27316	-1.0468	0.15303	T	0.083	0.32470	T	10	0.08481455	0.14254	T	0.006196	0.16229	T	0.068	0.19811	0.438	0.49157	0.69532546495	0.69270	0.1433803339657635	0.14261	0.477404131541	0.46858	0.518501162529	0.41415	T	0.020328	0.16027	T	-0.447094	0.01175	T	-0.572579	0.15214	T	0.0776782376979443	0.09688	T	0.813419	0.46649	T	0.06427301	0.13619	0.04495807	0.05943	0.06427301	0.13618	0.04495807	0.05942	-4.524	0.31201	T	.	.	0.074	0.05231	B	.	.	2.960027	0.39413	21.0	0.95219920078862097	0.26438	0.61464	0.31492	D	AEFBCI	0.123173	0.23865	N	-0.0675863166655209	0.38821	2.279623	0.0989912665858934	0.44497	2.730431	0.998436892055128	0.36959	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	3.541000	0.53373	8.602000	0.77731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0898:0.0:0.9102:0.0	10.462	0.43772	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	759.43	33	chr16	67266201	.	G	A	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.146;DP=386;ExcessHet=0;FS=8.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.52;SOR=0.316	GT:AD:DP:GQ:PL	0/1:37,33:70:99:771,0,991	9	0	1	0
chr16	67652479	67652479	G	A	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon28:c.G2825A:p.S942N,CARMIL2:NM_001317026:exon29:c.G2717A:p.S906N	.	433	1073	14	2	0	18	0.00831793	.	.	.	1157787	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.060	.	8e-05	0.014976	0.0106	0.0001	0.0004	0	0.0002	6.141e-05	0.0081	0.0769	0.0088938	1375	154602	rs372932175	0.0044	0.0044	0.0024	0.0065	0.0721	0.0044	0.0043	0.0706	0.0699	8.962e-05	2.237e-05	0.0005	5.038e-05	0	0.0014	2.698e-05	0.0038	0.0721	0.0022	0.0023	0.0011	0.0035	0.0687	0.0021	0.0020	0.0626	0.0602	0.0001	0	0.0001	0	0	0	0	1.47e-05	0.0014	0.0687	0.287	0.24090	T	0.358	0.17064	T	0.18	0.29046	B	0.056	0.26147	B	0.000310	0.00561	U	6.097970	0.999998	0.08975	N	.	.	.	2.61	0.13095	T	-0.76	0.21215	N	0.159	0.21056	-1.0373	0.18140	T	0.037	0.15943	T	10	0.0019447505	0.00027	T	.	.	.	0.060	0.17295	.	.	.	.	0.12855300607498168	0.12780	0.164794538668	0.18593	0.265383541584	0.05548	T	0.021559	0.16767	T	-0.687812	0.00043	T	-0.70651	0.05477	T	0.0115249985081326	0.00174	T	0.49835	0.15517	T	0.05509734	0.10661	0.062686674	0.12302	0.05270631	0.09870	0.062686674	0.12301	-6.062	0.46795	T	0.21355687140080465	0.28678	0.090	0.12560	B	.;.	.;.	1.485733	0.19121	14.10	0.98005277828551618	0.37513	0.03977	0.09390	N	AEFDGBCI	0.113088	0.22328	N	-0.457278597782386	0.23495	1.262057	-0.452157800880666	0.23488	1.281148	0.999997807865729	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.29	3.25	0.36363	0.554000	0.23113	0.366000	0.17626	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.715000	0.34611	0.0:0.0:0.7763:0.2237	8.841	0.34301	44	0.97806	CARMIL, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.000000	0.005882	0.000000	0.000000	0.003049	0.045455	0.1	3109.14	34	chr16	67652479	.	G	A	3109.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.07;DP=561;ExcessHet=0.2348;FS=3.474;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.096;SOR=0.907	GT:AD:DP:GQ:PL	0/1:78,55:133:99:1309,0,1916	8	0	2	0
chr16	67663656	67663656	C	T	splicing	ENKD1	NM_032140:exon5:c.743+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	0	0	0.0013	3.84e-05	1	26028	rs755981923	6.036e-05	6.02e-05	3.137e-05	8.968e-05	0.0010	4.974e-05	4.639e-05	0.0008	0.0007	0	0	0	0	0	0	0	8.306e-05	0.0010	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0012	2.107e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00123637	0.51824	T	0.157513	0.80652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.352814	0.89789	31	0.99153721574365528	0.53903	0.87774	0.47429	D	AEFDGBHCI	.	.	.	0.930865164401726	0.93187	11.87712	0.743051015025649	0.85637	8.640397	1.0	0.98316	0.159173	0.03462	2	0.388177	0.06301	1	0.097195	0.03014	1	0.074847	0.01849	1	0.979559	0.84268	5.25	5.25	0.73169	4.128000	0.57705	7.646000	0.63445	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	17.614	0.87964	41	0.97903	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1604.43	34	chr16	67663656	.	C	T	1604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=429;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.633;SOR=0.541	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1616,0,1448	9	0	1	0
chr16	67832541	67832541	G	C	exonic	CENPT	.	nonsynonymous SNV	CENPT:NM_025082:exon5:c.C115G:p.R39G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0226183304578	.	0.000599042	0.0004	0.0001	8.74e-05	0	0	3.024e-05	0	0.0025	0.000304	47	154602	rs202239829	0.0002	0.0002	9.668e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	5.975e-05	0	0	0	0	0.0002	8.096e-06	0.0002	0.0024	0.0001	0.0001	5.14e-05	0.0002	0.0031	7.087e-05	5.744e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0031	0.012	0.61437	D	0.281	0.53426	T	0.065	0.23521	B	0.063	0.27082	B	0.119219	0.19083	N	0.453528	1	0.23391	N	0.69	0.16971	N	0.14	0.60854	T	-2.28	0.71997	N	0.194	0.32259	-0.9453	0.41764	T	0.134	0.44759	T	10	0.010240644	0.00229	T	0.022618	0.45526	T	0.041	0.10877	0.176	0.08257	0.658464116293	0.65560	0.06546886117097915	0.06485	0.120251048276	0.13543	0.413788050413	0.26981	T	0.009389	0.37743	T	-0.411273	0.01949	T	-0.369399	0.36960	T	0.100699387114017	0.12434	T	0.70483	0.35027	T	0.18002081	0.39102	0.18334307	0.41317	0.18002081	0.39102	0.18334307	0.41317	-5.534	0.42185	T	.	.	0.090	0.24532	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.351472	0.46229	22.3	0.97641822467131956	0.35086	0.88652	0.48681	D	AEFBI	0.177195	0.30443	N	-0.42189951737633	0.24702	1.335747	-0.382466161478563	0.25520	1.403913	0.999945963278282	0.47345	0.722319	0.85440	0	0.581341	0.33841	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	4.29	3.32	0.37134	2.385000	0.44025	7.695000	0.65987	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.337000	0.25363	0.0:0.0:0.7952:0.2048	9.764	0.39717	8	0.99202	Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	816.43	33	chr16	67832541	.	G	C	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.589;DP=408;ExcessHet=0;FS=4.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=1.27;SOR=0.358	GT:AD:DP:GQ:PL	0/1:53,37:90:99:828,0,1419	9	0	1	0
chr16	71537183	71537183	G	A	exonic	CHST4	.	nonsynonymous SNV	CHST4:NM_001166395:exon2:c.G506A:p.R169H,CHST4:NM_005769:exon2:c.G506A:p.R169H	.	8	1509	5	0	0	5	0.00165399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	.	0.00479233	0.0026	0	8.64e-05	0.0002	0	1.498e-05	0.0011	0.0191	0.0023221	359	154602	rs375170120	0.0013	0.0013	0.0007	0.0018	0.0205	0.0012	0.0012	0.0197	0.0194	2.987e-05	4.472e-05	0	0.0001	1.872e-05	0.0010	4.496e-06	0.0011	0.0205	0.0006	0.0006	0.0003	0.0010	0.0187	0.0005	0.0005	0.0156	0.0144	2.407e-05	0	6.535e-05	0	0.0002	9.432e-05	0	2.941e-05	0	0.0187	0.273	0.15876	T	0.189	0.28575	T	0.637	0.40341	P	0.288	0.40614	B	0.595278	0.11010	N	0.833312	0.985607	0.24695	N	2.535	0.73915	M	-1.71	0.83157	D	-2.25	0.50337	N	0.054	0.02559	-0.5287	0.67590	T	0.490	0.80609	T	10	0.008623272	0.00195	T	.	.	.	0.418	0.72780	0.661	0.79894	0.734209617351	0.73183	0.3033352371329444	0.30246	0.290885369284	0.31494	0.201529502869	0.00503	T	0.690039	0.90979	D	-0.458239	0.01008	T	-0.41541	0.31603	T	0.045728550182188	0.04735	T	0.851115	0.53499	D	0.057001706	0.11288	0.094693474	0.22425	0.057001706	0.11288	0.094693474	0.22425	-5.168	0.38615	T	.	.	0.069	0.03231	B	.;.	.;.	1.917804	0.24354	16.37	0.94958676131062059	0.25873	0.14601	0.18489	N	AEFDGBI	0.165455	0.29195	N	-0.66330658924407	0.17074	0.8754837	-0.667854903365067	0.17767	0.946169	0.00989268888791771	0.11931	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.8	1.14	0.19817	0.233000	0.17689	0.133000	0.15072	-0.767000	0.03477	0.007000	0.17678	0.000000	0.08366	0.987000	0.62547	0.3838:0.0:0.6162:0.0	10.552	0.44286	222	0.91398	Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.011364	0.05	3422.43	34	chr16	71537183	.	G	A	3422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=597;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.09;SOR=0.76	GT:AD:DP:GQ:PL	0/1:146,140:286:99:3434,0,3174	9	0	1	0
chr16	74644683	74644683	T	C	exonic	RFWD3	.	nonsynonymous SNV	RFWD3:NM_001370539:exon4:c.A11G:p.E4G,RFWD3:NM_001370534:exon5:c.A845G:p.E282G,RFWD3:NM_001370536:exon5:c.A845G:p.E282G,RFWD3:NM_001370543:exon5:c.A11G:p.E4G,RFWD3:NM_018124:exon5:c.A845G:p.E282G,RFWD3:NM_001370535:exon6:c.A845G:p.E282G,RFWD3:NM_001370537:exon6:c.A11G:p.E4G,RFWD3:NM_001370540:exon6:c.A11G:p.E4G,RFWD3:NM_001370542:exon6:c.A11G:p.E4G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0148805774987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.208	0.26883	T	0.109	0.26142	B	0.149	0.34106	B	0.000079	0.52346	D	0.168985	0.998793	0.45457	D	1.845	0.48678	L	-0.32	0.68181	T	-2.94	0.61435	D	0.264	0.30687	-0.5541	0.66630	T	0.313	0.68344	T	10	0.21752593	0.38367	T	0.014881	0.35280	T	0.114	0.32008	0.319	0.29741	0.384586903782	0.38071	0.2822857014275027	0.28141	.	.	0.370842546225	0.20952	T	0.13717	0.46996	T	-0.0431594	0.45477	T	-0.299772	0.44748	T	0.776474297046661	0.44832	D	0.755524	0.37862	T	0.13273162	0.30897	0.19373018	0.42958	0.13273162	0.30896	0.19373018	0.42957	-6.181	0.47769	T	.	.	0.122	0.25689	B	.;.;.	.;.;.	3.574861	0.50364	22.9	0.98539682471687984	0.42707	0.94065	0.60006	D	AEFBI	0.288368	0.40027	N	0.114938902094524	0.47161	2.945575	0.25597191445372	0.52990	3.470299	0.999995122487755	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.550000	0.53438	7.824000	0.69857	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.440000	0.27671	0.0:0.0:0.0:1.0	16.369	0.83184	523	0.74147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1380.43	37	chr16	74644683	.	T	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.53;SOR=0.699	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1392,0,1127	9	0	1	0
chr16	81017351	81017351	A	C	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001100624:exon4:c.A243C:p.K81N,CENPN:NM_001100625:exon4:c.A243C:p.K81N,CENPN:NM_001270474:exon4:c.A243C:p.K81N,CENPN:NM_018455:exon4:c.A243C:p.K81N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0223593744613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.44029	T	0.236	0.38742	T	0.997	0.73220	D	0.939	0.67921	D	0.003351	0.35069	N	0.334834	0.999877	0.50225	D	2.595	0.75868	M	1.89	0.23688	T	-2.71	0.57762	D	0.501	0.59901	-0.9603	0.39124	T	0.126	0.43194	T	10	0.38040057	0.54150	T	0.022359	0.45241	T	0.154	0.40340	0.615	0.74884	0.535102873643	0.53161	0.5731883797918002	0.57246	0.0737171720781	0.08266	0.520034849644	0.41631	T	0.04535	0.30689	T	-0.127573	0.31891	T	-0.421026	0.30959	T	0.947365641593933	0.62665	D	0.841716	0.51747	T	0.45992354	0.64666	0.25063944	0.50659	0.45992354	0.64667	0.25063944	0.50658	-3.937	0.24415	T	.	.	0.653	0.73746	P	.;.;.;.;.	.;.;.;.;.	3.244685	0.44309	21.9	0.99728835768281843	0.82619	0.83204	0.42341	D	AEFDBI	0.143542	0.26627	N	0.220933266469404	0.52215	3.397034	0.104620728649836	0.44784	2.753552	0.999998751777034	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	3.35	0.37468	2.108000	0.41478	5.464000	0.48679	0.691000	0.84096	0.965000	0.33920	1.000000	0.68203	0.804000	0.37906	0.7677:0.0:0.2323:0.0	8.385	0.31657	716	0.55970	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1034.43	36	chr16	81017351	.	A	C	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.969;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.077;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,46:90:99:0|1:81017351_A_C:1046,0,1689:81017351	9	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	412	1066	43	1	0	45	0.0206706	.	.	.	715113	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011111	0.000000	0.013587	0.023529	0.000000	0.000000	0.009202	0.011364	0.05	1110.43	37	chr16	84016654	.	C	G	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.197;DP=410;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.361;SOR=0.913	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1122,0,1014	9	0	1	0
chr16	87644281	87644281	G	A	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon2:c.G406A:p.G136S	Huntington disease-like 2, Autosomal dominant	0	1509	12	1	0	14	0.00461741	.	.	.	1274842	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.0162692725796	0.0029	0.00119808	0.0023	0.0003	0.0006	0.0002	0.0002	0.0035	0.0024	0.0018	0.0020246	313	154602	rs149647215	0.0023	0.0023	0.0022	0.0024	0.0026	0.0022	0.0022	0.0020	0.0019	0.0006	0.0010	0.0276	2.521e-05	0.0001	0.0026	0.0019	0.0041	0.0023	0.0019	0.0019	0.0020	0.0017	0.0025	0.0017	0.0016	0.0018	0.0017	0.0004	0.0044	0.0005	0.0274	0.0004	0	0.0034	0.0021	0.0005	0.0025	0.139	0.25768	T	0.224	0.25591	T	0.139	0.27501	B	0.044	0.24394	B	0.000013	0.62929	D	0.112853	0.999969	0.52935	D	0.995	0.25082	L	0.52	0.55266	T	-2.13	0.48354	N	0.368	0.40963	-1.0282	0.21038	T	0.104	0.38144	T	10	0.0101519525	0.00227	T	0.016269	0.37444	T	0.049	0.13647	.	.	0.526266166122	0.52272	0.39360193056682985	0.39275	1.32069806668	0.83445	0.577369689941	0.49715	T	0.254733	0.62543	T	-0.445019	0.01208	T	-0.417873	0.31318	T	0.014508552521472	0.00296	T	0.940306	0.77472	D	0.13051903	0.30451	0.16262403	0.37766	0.14575458	0.33396	0.18811211	0.42082	-6.101	0.47117	T	.	.	0.096	0.15160	B	.	.	3.147489	0.42591	21.6	0.99806838157877786	0.89085	0.96490	0.69398	D	AEFDBI	0.785380	0.71578	D	-0.136699326648952	0.35803	2.061147	0.0139201676066663	0.40361	2.407457	0.999999694060578	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.73	3.77	0.42499	4.927000	0.63141	9.817000	0.81781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0836:0.0:0.9164:0.0	12.171	0.53466	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1422.43	70	chr16	87644281	.	G	A	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.885;SOR=0.623	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1434,0,1274	9	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.1	1481.14	33	chr16	88807362	.	C	T	1481.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=400;ExcessHet=0.2348;FS=2.296;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.332;SOR=0.882	GT:AD:DP:GQ:PL	0/1:20,13:33:99:367,0,536	8	0	2	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	511.05	100	chr16	89284161	.	A	G	511.05	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.69;DP=875;ExcessHet=1.5895;FS=276.627;InbreedingCoeff=-0.4635;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.605;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,11:65:99:0|1:89284161_A_G:119,0,1989:89284161	2	0	4	4
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.2	2415.55	34	chr16	89767168	.	G	C	2415.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.052;DP=368;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.371;SOR=0.631	GT:AD:DP:GQ:PL	0/1:19,20:39:99:472,0,426	7	1	2	0
chr17	3543545	3543545	A	G	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A	Olmsted syndrome, Autosomal dominant	1	1511	10	0	0	10	0.00329815	.	.	.	328114	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma|not_provided	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	7.7e-05	0.00539137	0.0047	0.0003	0.0003	0.0001	0	4.496e-05	0.0033	0.0340	0.0040232	622	154602	rs139870087	0.0021	0.0021	0.0012	0.0030	0.0332	0.0020	0.0020	0.0322	0.0318	2.987e-05	2.236e-05	0	7.557e-05	0	0.0007	2.608e-05	0.0023	0.0332	0.0010	0.0010	0.0004	0.0016	0.0291	0.0009	0.0008	0.0252	0.0237	0.0001	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0291	1.0	0.00964	T	0.583	0.12920	T	0.0	0.13644	B	0.002	0.17743	B	0.027061	0.25820	N	0.367561	0.807464	0.29041	N	0.715	0.18665	N	-2.17	0.87591	D	-0.08	0.08187	N	0.078	0.12913	-0.7183	0.59546	T	0.388	0.74298	T	10	0.004003018	0.00077	T	.	.	.	0.151	0.39764	.	.	0.821853393705	0.82017	0.38004091815012153	0.37919	0.203211832339	0.22737	0.501153469086	0.38988	T	0.064	0.32268	T	-0.401881	0.02250	T	-0.324983	0.42026	T	0.0103249717654957	0.00141	T	0.670533	0.29475	T	0.08936931	0.20880	0.08118613	0.18430	0.09146237	0.21431	0.060334153	0.11472	-5.718	0.43853	T	.	.	0.182	0.42820	B	.;.;.;.	.;.;.;.	1.555870	0.19936	14.51	0.40847810486541158	0.02909	0.66927	0.33250	D	AEFGBI	0.182772	0.31010	N	-0.510105010248509	0.21752	1.156696	-0.332243773054126	0.27064	1.499159	0.00466858149891102	0.10663	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	4.19	0.48645	1.634000	0.36736	4.681000	0.44321	0.756000	0.94297	0.454000	0.26597	0.784000	0.26805	0.600000	0.31387	0.833:0.0:0.167:0.0	7.988	0.29383	631	0.64944	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.05	992.43	35	chr17	3543545	.	A	G	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.073;DP=418;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.07;SOR=0.805	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1004,0,1447	9	0	1	0
chr17	3745825	3745825	C	G	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon18:c.G2258C:p.R753T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0153999031703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.078	0.42261	T	0.642	0.40458	P	0.233	0.38358	B	.	.	.	.	1	0.08975	N	2.08	0.57402	M	1.04	0.40218	T	-2.34	0.51811	N	0.328	0.36884	-1.0254	0.21952	T	0.079	0.31314	T	9	0.22343284	0.39121	T	0.015	0.36109	T	0.095	0.27398	0.556	0.67409	0.495706241231	0.49207	0.4423848974937902	0.44155	0.533616575574	0.50795	0.274157345295	0.06690	T	0.068308	0.33423	T	-0.149987	0.28314	T	-0.453223	0.27341	T	0.438245952129364	0.30364	T	0.462854	0.13445	T	0.13623731	0.31589	0.20314221	0.44376	0.13623731	0.31589	0.20314221	0.44375	-5.834	0.44870	T	.	.	0.124	0.26200	B	.	.	-0.020594	0.04141	0.989	0.33846123901787184	0.02038	0.02201	0.06424	N	AEFDGBI	0.069168	0.13678	N	-0.765452492240976	0.14218	0.7064227	-0.918382077011723	0.11661	0.5954165	0.00886891112126667	0.11755	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.13	-0.233	0.12433	-0.588000	0.05867	-4.090000	0.02348	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.5427:0.0:0.4573	6.214	0.19858	824	0.40336	Integrin alpha-2	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1461.43	33	chr17	3745825	.	C	G	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.6;DP=425;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.644;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1473,0,1156	9	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,91:91:99:.:.:3333,293,0:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,91:91:99:.:.:3333,293,0:.	1	5	3	1
chr17	5363006	5363006	C	T	exonic	RABEP1	.	nonsynonymous SNV	RABEP1:NM_001291581:exon9:c.C1529T:p.T510M,RABEP1:NM_001083585:exon10:c.C1658T:p.T553M,RABEP1:NM_004703:exon10:c.C1658T:p.T553M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00179712	0.0015	0.0003	8.652e-05	0.0001	0	4.511e-05	0.0022	0.0105	0.0012613	195	154602	rs374594228	0.0007	0.0007	0.0003	0.0012	0.0120	0.0007	0.0007	0.0114	0.0112	2.993e-05	2.236e-05	0	2.52e-05	1.872e-05	0.0007	1.262e-05	0.0005	0.0120	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0	9.441e-05	0	1.47e-05	0.0005	0.0077	0.092	0.31682	T	0.097	0.39190	T	0.144	0.27759	B	0.039	0.23607	B	0.000004	0.62929	D	0.104278	0.999993	0.58761	D	0.755	0.19153	N	1.33	0.35031	T	-0.18	0.09796	N	0.461	0.49783	-1.0867	0.06102	T	0.054	0.22921	T	10	0.009521872	0.00215	T	.	.	.	0.134	0.36365	0.642	0.77903	0.314436011497	0.31061	0.40679981457577513	0.40595	.	.	0.745171904564	0.73733	T	0.098707	0.40279	T	-0.405872	0.02118	T	-0.345395	0.39732	T	0.0477543146671593	0.05099	T	0.943306	0.78595	D	0.10942916	0.25872	0.099683255	0.23809	0.10942916	0.25871	0.099683255	0.23808	-3.458	0.17182	T	.	.	0.098	0.27642	B	.;.	.;.	4.973395	0.82330	27.8	0.98915920643194	0.48454	0.96176	0.67882	D	AEFBI	0.488417	0.52675	N	-0.184394770695045	0.33783	1.92066	-0.0248319835592015	0.38596	2.276241	0.996940744120789	0.35138	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.61	4.63	0.57175	3.952000	0.56399	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.1507:0.7749:0.0:0.0744	8.840	0.34296	504	0.75712	Rabaptin, GTPase-Rab5 binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	757.43	33	chr17	5363006	.	C	T	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.571;SOR=0.727	GT:AD:DP:GQ:PL	0/1:33,31:64:99:769,0,755	9	0	1	0
chr17	7317527	7317527	T	C	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon27:c.A4246G:p.M1416V,NEURL4:NM_032442:exon27:c.A4252G:p.M1418V	.	424	1079	19	0	0	19	0.00872761	.	.	.	704339	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0059	0.00459265	0.0053	0.0015	0.0027	0.0001	0.0003	0.0049	0.0122	0.0151	0.0053428	826	154602	rs144766007	0.0069	0.0069	0.0068	0.0071	0.0137	0.0068	0.0068	0.0131	0.0128	0.0009	0.0029	3.826e-05	2.519e-05	0.0004	0.0042	0.0076	0.0059	0.0137	0.0046	0.0046	0.0047	0.0044	0.0100	0.0043	0.0042	0.0077	0.0069	0.0015	0	0.0056	0.0003	0	0.0004	0.0170	0.0070	0.0057	0.0100	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000006	0.62929	N	0.109105	0.755215	0.29597	N	0.05	0.08135	N	1.77	0.25841	T	0.49	0.02993	N	0.394	0.43514	-1.0019	0.29372	T	0.017	0.06855	T	10	0.0062610805	0.00141	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.5707462383111115	0.57002	0.538728098851	0.51120	0.502444863319	0.39168	T	0.005909	0.05354	T	-0.536757	0.00350	T	-0.531467	0.19141	T	0.00742740142554384	0.00086	T	0.819218	0.47714	T	0.131274	0.30604	0.12637737	0.30437	0.131274	0.30603	0.12637737	0.30436	-1.456	0.01827	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	3.249548	0.44396	21.9	0.82686605787481182	0.14321	0.95828	0.66327	D	AEFDGBI	0.682930	0.64578	D	-0.54608992193611	0.20606	1.087518	-0.319335026908503	0.27474	1.524787	0.999460908403817	0.39843	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.84	3.76	0.42368	4.172000	0.58036	3.489000	0.38702	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0859:0.0:0.9141	9.451	0.37889	523	0.74147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1512.43	34	chr17	7317527	.	T	C	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.359;SOR=0.711	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1524,0,1377	9	0	1	0
chr17	7858637	7858637	G	C	exonic	CYB5D1	.	nonsynonymous SNV	CYB5D1:NM_001330110:exon3:c.G269C:p.C90S,CYB5D1:NM_144607:exon3:c.G269C:p.C90S	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0160772151447	.	.	0.0001	9.692e-05	0	0	0	1.53e-05	0	0.0010	0.0001229	19	154602	rs566857290	4.059e-05	4.036e-05	2.871e-05	5.263e-05	0.0005	3.197e-05	2.927e-05	0.0004	0.0004	0	0	0	0	0	0.0002	6.326e-06	0.0001	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.512	0.07449	T	0.295	0.20680	T	0.003	0.12183	B	0.016	0.24256	B	0.007508	0.31355	N	0.362402	0.999974	0.21167	N	2.505	0.72935	M	-1.02	0.76300	T	-4.33	0.76740	D	0.186	0.21710	-0.8163	0.54165	T	0.317	0.68682	T	10	0.03882593	0.02328	T	0.016077	0.37157	T	0.131	0.35738	0.424	0.46857	0.365317461125	0.36143	0.7196526405283803	0.71908	0.817112521783	0.66991	0.284971565008	0.08196	T	0.065136	0.32612	T	-0.36354	0.03933	T	-0.381706	0.35523	T	0.39340603351593	0.28693	T	0.640736	0.25328	T	0.19196096	0.40845	0.25001928	0.50584	0.19196096	0.40845	0.25001928	0.50583	-5.044	0.47525	T	.	.	0.108	0.21653	B	.;.	.;.	1.796726	0.22840	15.78	0.84383997506472885	0.15260	0.26040	0.22877	N	ALL	0.150926	0.27531	N	-0.560142966138661	0.20166	1.061144	-0.50479721072465	0.22022	1.194133	0.999999999043718	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.52	1.0	0.18999	1.937000	0.39821	1.949000	0.29874	0.676000	0.76740	0.937000	0.32526	0.891000	0.27831	0.995000	0.73285	0.0783:0.1711:0.7506:0.0	13.258	0.59517	320	0.86992	.;Cytochrome b5-like heme/steroid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1645.43	37	chr17	7858637	.	G	C	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.81;SOR=0.697	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1657,0,1391	9	0	1	0
chr17	8114484	8114484	G	A	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001369446:exon5:c.C677T:p.A226V,ALOXE3:NM_001165960:exon6:c.C1076T:p.A359V,ALOXE3:NM_021628:exon6:c.C680T:p.A227V	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	2	1516	4	0	0	4	0.00131752	0.0343	0.316	YES	797624	Autosomal_recessive_congenital_ichthyosis_3|not_provided	MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.443	0.0929278099463	.	.	0.0002	0	8.64e-05	0	0	0.0001	0.0011	0.0008	0.0001682	26	154602	rs199981318	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0009	0	6.708e-05	0	0	0	0.0010	0.0002	0.0002	0.0011	5.264e-05	5.253e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	1.973e-05	1.125e-05	4.835e-05	0	0	0	0	0	0	5.885e-05	0.0005	0.0002	0.078	0.46129	T	0.084	0.41239	T	0.111	0.26235	B	0.029	0.21540	B	0.291429	0.14762	N	0.664999	0.763107	0.34062	D	1.485	0.37223	L	-2.67	0.90332	D	-1.9	0.44284	N	0.273	0.30914	0.151	0.85080	D	0.621	0.86638	D	9	0.12192729	0.23122	T	0.092928	0.75981	D	0.443	0.74588	.	.	0.940565244598	0.93994	0.2756544525761791	0.27478	0.248281453922	0.27391	0.451162785292	0.32103	T	0.118623	0.43958	T	-0.240948	0.15227	T	-0.179479	0.56571	T	0.0447214661413578	0.04551	T	0.626337	0.24237	T	0.0734038	0.16401	0.11934262	0.28806	0.0734038	0.16400	0.11934262	0.28805	-4.347	0.28982	T	.	.	0.146	0.40618	B	.;.;.	.;.;.	3.701581	0.52801	23.3	0.99719837205035955	0.81984	0.87722	0.47358	D	AEFBI	0.278409	0.39270	N	-0.000730473740849141	0.41823	2.508524	0.0670413260584502	0.42903	2.60332	0.0774252180848599	0.15758	0.625279	0.40028	0	0.60822	0.50512	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.46	3.49	0.39065	2.862000	0.48087	3.038000	0.36069	0.676000	0.76740	0.998000	0.41325	0.999000	0.35428	0.919000	0.45453	0.1:0.0:0.7065:0.1934	5.670	0.16989	344	0.85734	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1632.43	36	chr17	8114484	.	G	A	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.051;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.881;SOR=0.65	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1644,0,1832	9	0	1	0
chr17	18322669	18322669	C	A	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon2:c.C2413A:p.R805S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0371454456579	0.0008	0.00119808	0.0014	0.0002	0.0003	0.0001	0.0003	0.0009	0.0034	0.0056	0.0011707	181	154602	rs201638935	0.0008	0.0008	0.0007	0.0010	0.0062	0.0008	0.0008	0.0057	0.0056	2.987e-05	0.0002	0.0049	2.519e-05	0.0002	0.0009	0.0004	0.0010	0.0062	0.0006	0.0006	0.0006	0.0006	0.0043	0.0005	0.0005	0.0029	0.0024	2.404e-05	0.0066	0.0001	0.0049	0	0.0002	0	0.0006	0.0005	0.0043	0.054	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	U	0.000000	1	0.81001	D	2.485	0.72352	M	1.83	0.24841	T	-2.37	0.52289	N	0.87	0.86725	-0.9100	0.46854	T	0.161	0.49631	T	10	0.014949411	0.00314	T	0.037145	0.57436	D	0.357	0.67782	.	.	0.273070737957	0.26916	0.8027918734261257	0.80233	0.340541529389	0.35994	0.631339550018	0.57335	T	0.11525	0.43369	T	-0.0859125	0.38749	T	0.106428	0.77334	D	0.0742796063423157	0.09240	T	.	.	.	0.7205222	0.79190	0.39464763	0.64153	0.7205222	0.79192	0.39464763	0.64153	-7.334	0.56437	T	.	.	0.967	0.88969	P	.	.	4.804075	0.78081	26.8	0.99801623787436311	0.88639	0.96108	0.67569	D	AEFDGBCI	0.850551	0.76739	D	0.721846975220286	0.81065	7.435673	0.688867755673845	0.81533	7.549076	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.05	5.05	0.67566	7.406000	0.79244	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	18.783	0.91906	521	0.74284	Folliculin/SMCR8, tripartite DENN 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	.	.	.	.	.	.	.	.	0.05	995.43	33	chr17	18322669	.	C	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=436;ExcessHet=0;FS=11.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.793;SOR=1.599	GT:AD:DP:GQ:PL	0/1:71,40:111:99:1007,0,1740	9	0	1	0
chr17	29969063	29969063	A	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon4:c.A295G:p.N99D,EFCAB5:NM_198529:exon4:c.A463G:p.N155D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00395551900957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336487509	2.057e-06	2.052e-06	1.364e-06	2.759e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.659e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.0	0.92824	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	0.998547	0.45064	D	0.895	0.22405	L	1.94	0.22678	T	-3.5	0.68178	D	0.153	0.17966	-1.0091	0.27198	T	0.035	0.15291	T	9	0.029424429	0.01070	T	0.003956	0.09337	T	0.039	0.10176	0.145	0.04843	0.132336055621	0.12781	0.06998607720873691	0.06935	0.11607837955	0.13092	0.371024727821	0.20979	T	0.002961	0.02360	T	-0.355971	0.04363	T	-0.646161	0.09226	T	0.0343665445450121	0.02699	T	0.591441	0.21800	T	0.059829608	0.12206	0.08103239	0.18381	0.059829608	0.12205	0.08103239	0.18380	-3.049	0.10719	T	.	.	0.105	0.19276	B	.;.;.	.;.;.	1.153573	0.15417	11.84	0.96311138132076757	0.29380	0.16075	0.19219	N	AEI	0.056271	0.10389	N	-0.713600297531013	0.15638	0.7899083	-0.623504585354171	0.18890	1.011127	2.25503352801043E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.57	-1.67	0.07798	0.063000	0.14285	0.562000	0.19521	0.756000	0.94297	0.199000	0.24297	0.705000	0.26257	0.989000	0.64315	0.1867:0.0:0.5331:0.2803	6.672	0.22265	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1259.43	39	chr17	29969063	.	A	G	1259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.639;SOR=0.631	GT:AD:DP:GQ:PL	0/1:24,48:72:99:1271,0,517	9	0	1	0
chr17	31527843	31527843	G	T	exonic	RAB11FIP4	.	nonsynonymous SNV	RAB11FIP4:NM_001346749:exon7:c.G496T:p.V166L,RAB11FIP4:NM_001346747:exon8:c.G775T:p.V259L,RAB11FIP4:NM_001303542:exon9:c.G970T:p.V324L,RAB11FIP4:NM_001346748:exon9:c.G853T:p.V285L,RAB11FIP4:NM_032932:exon11:c.G1276T:p.V426L	.	421	1087	13	1	0	15	0.00685244	0.7990	0.654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00475352565605	0.0005	0.00219649	0.0024	0.0002	0	0	0.0004	0.0018	0.0023	0.0077	0.001326	205	154602	rs149307417	0.0011	0.0011	0.0009	0.0013	0.0076	0.0010	0.0010	0.0060	0.0058	8.979e-05	0.0001	0.0082	0	1.892e-05	0.0076	0.0006	0.0016	0.0065	0.0007	0.0007	0.0006	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	0.0001	0	6.537e-05	0.0066	0	9.43e-05	0	0.0008	0.0024	0.0046	.	.	.	1.0	0.04104	T	0.019	0.23796	B	0.007	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.85	0.21244	L	.	.	.	.	.	.	0.478	0.51851	-1.0090	0.27230	T	0.119	0.41799	T	8	0.008194476	0.00186	T	0.004754	0.11847	T	0.135	0.36572	0.223	0.14665	0.138757226776	0.13463	0.3941237701467824	0.39327	.	.	0.680409491062	0.64326	T	0.039924	0.25355	T	-0.274216	0.11291	T	-0.164334	0.57959	T	0.0212019009167872	0.00822	T	0.853715	0.57909	D	0.16807476	0.37243	0.19039187	0.42440	0.16807476	0.37243	0.19039187	0.42439	-1.166	0.02317	T	.	.	0.180	0.39203	B	.;.	.;.	3.233420	0.44108	21.9	0.97194025010433016	0.32779	0.94664	0.61908	D	AEFDBHCIJ	0.823946	0.74395	D	0.0426468319480842	0.43806	2.666321	0.265647799341322	0.53545	3.522865	0.99999998251004	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.665031	0.64506	0	.	.	5.67	5.67	0.87673	6.425000	0.73295	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.0:0.0:1.0:0.0	17.276	0.87003	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1077.43	34	chr17	31527843	.	G	T	1077.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=397;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.37;SOR=0.518	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1089,0,782	9	0	1	0
chr17	35265106	35265106	C	T	exonic	SLFN5	.	nonsynonymous SNV	SLFN5:NM_144975:exon5:c.C1894T:p.R632W	.	431	1085	5	1	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	.	7.7e-05	0.0103834	0.0047	0.0005	8.648e-05	0.0001	0	1.51e-05	0.0034	0.0353	0.0041203	637	154602	rs377005010	0.0019	0.0019	0.0011	0.0026	0.0293	0.0018	0.0018	0.0284	0.0280	0.0002	0	0	7.558e-05	0	0.0009	4.138e-05	0.0024	0.0293	0.0011	0.0011	0.0005	0.0018	0.0332	0.0010	0.0009	0.0290	0.0274	0.0002	0	0	0	0	0	0	4.41e-05	0.0005	0.0332	0.025	0.47320	D	0.0	0.92824	D	0.607	0.39488	P	0.118	0.32088	B	0.003538	0.34820	N	0.000000	0.803088	0.81001	D	2.955	0.85029	M	-1.96	0.85091	D	-6.35	0.90976	D	0.579	0.60071	-0.2490	0.76387	T	0.454	0.78703	T	10	0.0072906315	0.00166	T	.	.	.	0.560	0.81946	.	.	0.793167659764	0.79124	0.5150728792062971	0.51430	0.0891160737767	0.10071	0.43927308917	0.30477	T	0.069081	0.33621	T	-0.170347	0.25182	T	0.00621658	0.70738	D	0.135561841435139	0.15886	T	0.958804	0.84482	D	0.17199844	0.37865	0.21237683	0.45704	0.17199844	0.37865	0.21237683	0.45703	-8.686	0.65654	D	.	.	0.268	0.50232	B	.	.	3.901650	0.56841	23.8	0.99562287055590459	0.71831	0.55984	0.30002	D	AEFBI	0.302629	0.41082	N	-0.120684219932541	0.36492	2.110103	-0.166264362806132	0.32787	1.868807	0.013306487183894	0.12446	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.27	2.29	0.27658	0.280000	0.18550	0.647000	0.20375	0.549000	0.26987	0.296000	0.25288	0.000000	0.08366	0.955000	0.50612	0.0:0.862:0.0:0.138	6.601	0.21897	870	0.31527	Domain of unknown function DUF2075	.	.	.	.	.	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	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.015152	0.1	2156.14	79	chr17	35265106	.	C	T	2156.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.94;DP=684;ExcessHet=0.2348;FS=2.68;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.123;SOR=0.935	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1033,0,983	8	0	2	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:38,36:74:99:496,0,514	0	0	10	0
chr17	38336989	38336989	G	A	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon4:c.C1216T:p.R406C	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1954525	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.665	0.0516641453363	7.8e-05	.	1.975e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs373472248	2.906e-05	3.147e-05	2.196e-05	3.626e-05	0.0002	2.176e-05	1.929e-05	0.0001	8.923e-05	8.998e-05	0	0	2.554e-05	0	0	1.9e-05	3.349e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	7.237e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.161648	0.03043	N	1.770990	0.995438	0.42690	D	.	.	.	.	.	.	.	.	.	0.739	0.75466	0.309	0.87697	D	0.887	0.96255	D	10	0.8367908	0.82834	D	0.051664	0.64754	D	.	.	.	.	0.0611884634855	0.05136	0.7081281024591405	0.70754	.	.	0.380175739527	0.22281	T	.	.	.	0.200723	0.73959	D	0.050548	0.73620	D	0.743758499622345	0.42941	D	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.39613	B	.;.	.;.	5.253152	0.88202	29.5	0.9994115828525818	0.99797	0.98127	0.79829	D	AEFDBI	0.768506	0.70405	D	0.782134840439042	0.84977	8.44077	0.71557436733805	0.83562	8.054157	0.999596225544463	0.40745	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	4.387000	0.59391	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:0.8402:0.1598	13.220	0.59305	165	0.93588	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	438.43	36	chr17	38336989	.	G	A	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.441;SOR=0.622	GT:AD:DP:GQ:PL	0/1:13,18:31:99:450,0,301	9	0	1	0
chr17	38462936	38462936	G	A	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon4:c.G344A:p.R115H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00784354602263	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455090989	1.654e-05	1.642e-05	1.135e-05	2.186e-05	0.0001	1.101e-05	9.2e-06	7.874e-05	6.129e-05	0	0	0	2.801e-05	0	0	1.022e-05	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	0.529	0.37682	P	0.067	0.27542	B	.	.	.	.	0.648025	0.30558	N	1.445	0.36358	L	.	.	.	.	.	.	0.255	0.28849	-0.8317	0.53191	T	0.141	0.46128	T	9	0.5454372	0.63957	D	0.007844	0.20798	T	.	.	0.643	0.78010	0.462549850287	0.45878	0.32427050079440967	0.32340	.	.	0.512073993683	0.40513	T	0.008205	0.07549	T	0.0318905	0.55974	T	-0.191968	0.55405	T	0.916035830974579	0.57330	D	.	.	.	0.13793911	0.31919	0.23271307	0.48439	0.13793911	0.31919	0.23271307	0.48438	-8.027	0.61254	D	.	.	0.100	0.19919	B	.;.;.	.;.;.	3.966309	0.58211	24.0	0.9964735592188364	0.77068	0.88565	0.48552	D	AEFBCI	0.635736	0.61514	D	0.232493055475137	0.52779	3.450044	0.340416913961227	0.57932	3.961051	0.999999973051081	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.17	4.19	0.48645	6.227000	0.72232	8.393000	0.77090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0927:0.0:0.9073:0.0	10.724	0.45258	113	0.95418	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	34	chr17	38462936	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.45;SOR=0.69	GT:AD:DP:GQ:PL	0/1:31,37:68:99:900,0,780	9	0	1	0
chr17	39156923	39156923	A	G	exonic	ARL5C	.	nonsynonymous SNV	ARL5C:NM_001143968:exon6:c.T511C:p.W171R	.	404	1111	7	0	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	.	.	0.0155751	0.0120	0	0.0025	0.0416	0	0.0008	0.0105	0.0248	0.0025873	400	154602	rs151045610	0.0024	0.0024	0.0018	0.0032	0.0271	0.0024	0.0024	0.0261	0.0257	6.33e-05	0.0001	0.0025	0.0199	0.0001	0.0007	0.0002	0.0054	0.0271	0.0025	0.0025	0.0017	0.0032	0.0368	0.0022	0.0022	0.0325	0.0309	0	0	0.0003	0.0032	0.0368	0	0	5.879e-05	0.0028	0.0328	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	3.895	0.96086	H	-0.19	0.65931	T	-11.5	0.99458	D	0.811	0.80669	-0.2759	0.75652	T	0.281	0.65250	T	9	0.009276509	0.00210	T	.	.	.	0.494	0.77973	0.8	0.91946	0.578293158758	0.57498	0.6106227060727205	0.60994	.	.	0.531472206116	0.43242	T	0.084791	0.37357	T	-0.163264	0.26259	T	0.0234058	0.71851	D	0.225259914569435	0.21723	T	0.381062	0.09207	T	0.7987345	0.83824	0.782999	0.87212	0.7987345	0.83826	0.782999	0.87213	-8.961	0.67446	D	.	.	0.406	0.59926	A	.	.	3.390896	0.46947	22.4	0.98497077244871911	0.42168	0.84970	0.44068	D	AEFDGBHCI	0.581414	0.58144	D	0.459382545358097	0.64738	4.735151	0.304210723935352	0.55787	3.741498	0.999999713578967	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	3.81	3.81	0.43020	3.750000	0.54874	3.670000	0.39434	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.196000	0.21779	1.0:0.0:0.0:0.0	8.976	0.35098	599	0.68140	.	.	.	.	.	.	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	0.005219	0.000000	0.000000	0.008264	0.000000	0.026316	0.010638	0.000000	0.05	926.43	40	chr17	39156923	.	A	G	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=433;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.193;SOR=0.784	GT:AD:DP:GQ:PL	0/1:76,44:120:99:938,0,1685	9	0	1	0
chr17	40818859	40818859	-	CGCCGTATCCGCCGCCGGAGCTGCTGCCTG	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG:p.G558_G559insAGSSSGGGYG,KRT10:NM_001379366:exon7:c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG:p.G558_G559insAGSSSGGGYG	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1884778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	7.38e-05	0.0014	0.0035	6.5e-06	1	154602	rs763196192	0.0002	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	0	0	0	2.664e-05	0.0001	0.0038	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	8.749e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	765.39	122	chr17	40818859	.	C	CCGCCGTATCCGCCGCCGGAGCTGCTGCCTG	765.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.662;DP=529;ExcessHet=0;FS=8.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.73;SOR=1.911	GT:AD:DP:GQ:PL	0/1:34,22:56:99:777,0,1370	9	0	1	0
chr17	42104906	42104906	C	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon11:c.G1423A:p.D475N	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	7.7e-05	0.00259585	0.0019	0.0002	8.649e-05	0	0	0.0001	0	0.0134	0.0016041	248	154602	rs151154572	0.0007	0.0007	0.0004	0.0010	0.0113	0.0007	0.0007	0.0108	0.0105	0.0002	8.946e-05	0	2.519e-05	0	0.0002	3.058e-05	0.0008	0.0113	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	9.621e-05	0	0	0	0	0	0	1.47e-05	0	0.0114	0.072	0.34982	T	0.219	0.25987	T	0.287	0.32229	B	0.084	0.29270	B	0.138899	0.02869	N	1.567910	1	0.08975	N	0.425	0.12573	N	3.59	0.04544	T	-2.11	0.48020	N	0.207	0.22998	-0.9453	0.41764	T	0.013	0.05321	T	10	0.0049121976	0.00105	T	.	.	.	0.029	0.06676	.	.	0.203808441222	0.19973	0.20307903529937527	0.20224	0.234936887306	0.26027	0.272790312767	0.06507	T	0.178201	0.52877	T	-0.727839	0.00025	T	-0.807236	0.01728	T	0.00866139836402994	0.00106	T	0.748825	0.36981	T	0.04744921	0.08111	0.046427917	0.06470	0.04744921	0.08110	0.046427917	0.06470	-4.974	0.36557	T	.	.	0.073	0.04558	B	.	.	1.670437	0.21294	15.14	0.98473501368372696	0.41884	0.05799	0.11735	N	AEFBI	0.085068	0.17242	N	-0.963869855698998	0.09384	0.4438857	-1.05937744605127	0.08512	0.4188981	0.831545775058741	0.24703	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-2.46	0.06089	0.016000	0.13272	-0.354000	0.09723	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4611:0.1007:0.4382	8.468	0.32130	323	0.86843	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1790.43	34	chr17	42104906	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.553;DP=446;ExcessHet=0;FS=4.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.355;SOR=0.644	GT:AD:DP:GQ:PL	0/1:58,74:132:99:1802,0,1353	9	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:76:0|1:43209576_C_T:76,0,799:43209576	1	0	5	4
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T,SNX11:NM_013323:exon7:c.C661A:p.P221T,SNX11:NM_152244:exon8:c.C661A:p.P221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121356	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.563;DP=696;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-0.031;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,13:147:73:0|1:48121356_C_A:73,0,5446:48121356	8	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H,SNX11:NM_013323:exon7:c.C662A:p.P221H,SNX11:NM_152244:exon8:c.C662A:p.P221H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121357	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=694;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.045;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,13:147:73:0|1:48121356_C_A:73,0,5446:48121356	8	0	2	0
chr17	48804989	48804989	C	-	exonic	TTLL6	.	frameshift deletion	TTLL6:NM_001130918:exon2:c.106delG:p.A36Pfs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1352.39	36	chr17	48804988	.	GC	G	1352.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.8;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=0.623;SOR=0.626	GT:AD:DP:GQ:PL	0/1:27,46:73:99:1364,0,681	9	0	1	0
chr17	49578690	49578690	G	A	exonic	NXPH3	.	nonsynonymous SNV	NXPH3:NM_007225:exon2:c.G149A:p.R50Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00465546267138	7.7e-05	.	2.546e-05	0	0	0	0	4.642e-05	0	0	1.94e-05	3	154602	rs144280216	1.438e-05	1.505e-05	1.09e-05	1.789e-05	1.799e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	3.831e-05	0	0	0	1.799e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.44694	T	0.249	0.43721	T	0.868	0.64738	P	0.194	0.53781	B	0.007749	0.31217	N	0.310331	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.18	0.11913	N	0.196	0.35620	-1.0763	0.08083	T	0.040	0.17277	T	9	0.12263742	0.23268	T	0.004655	0.11534	T	0.095	0.27398	.	.	0.082315109003	0.07666	0.3154458979710116	0.31457	0.755441468755	0.63989	0.513851523399	0.40762	T	0.111653	0.42731	T	-0.173543	0.24701	T	-0.377	0.36073	T	0.607381105422974	0.36695	D	0.871313	0.57716	D	0.07144765	0.15819	0.050324	0.07875	0.07144765	0.15819	0.050324	0.07875	-4.149	0.26009	T	.	.	0.097	0.19154	B	.;.	.;.	5.075961	0.84686	28.4	0.9990968611247375	0.97949	0.03937	0.09332	N	AEFDGBI	0.038737	0.05526	N	-0.13048098039859	0.36068	2.080013	-0.0528691402608544	0.37367	2.186904	0.999823002438496	0.43622	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.55	4.55	0.55429	2.179000	0.42157	11.826000	0.97381	0.674000	0.70861	0.961000	0.33663	1.000000	0.68203	0.998000	0.85391	0.1765:0.0:0.8235:0.0	8.225	0.30722	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	890.43	35	chr17	49578690	.	G	A	890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=380;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=2.01;SOR=0.4	GT:AD:DP:GQ:PL	0/1:29,36:65:99:902,0,597	9	0	1	0
chr17	49707012	49707012	G	C	exonic	SLC35B1	.	nonsynonymous SNV	SLC35B1:NM_005827:exon2:c.C161G:p.T54S	.	431	1058	33	0	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00539137	0.0109	0.0018	0.0041	0.0001	0.0290	0.0117	0.0121	0.0165	0.0101422	1568	154602	rs142518431	0.0097	0.0098	0.0093	0.0101	0.0177	0.0096	0.0095	0.0169	0.0166	0.0011	0.0048	0.0199	5.038e-05	0.0252	0.0132	0.0089	0.0099	0.0177	0.0084	0.0084	0.0077	0.0092	0.0149	0.0080	0.0079	0.0121	0.0111	0.0017	0	0.0063	0.0225	0.0002	0.0246	0.0136	0.0100	0.0081	0.0149	0.603	0.05584	T	0.759	0.04652	T	0.0	0.02946	B	0.004	0.10090	B	0.000009	0.62929	D	0.109197	0.993073	0.41828	D	-0.44	0.02835	N	1.55	0.29866	T	0.42	0.03352	N	.	.	-1.0703	0.09348	T	0.023	0.09696	T	10	0.0074454844	0.00169	T	.	.	.	0.254	0.56428	0.478	0.55663	.	.	0.513224448334425	0.51244	0.253413253526	0.27906	0.680591702461	0.64353	T	0.01522	0.12811	T	-0.344412	0.05088	T	-0.254526	0.49370	T	0.0135447190752144	0.00249	T	0.829117	0.55914	T	0.13029192	0.30405	0.15126616	0.35639	0.13029192	0.30405	0.15126616	0.35638	-5.308	0.40022	T	.	.	0.136	0.40666	B	.;.;.;.;.	.;.;.;.;.	3.131060	0.42311	21.5	0.86187237248678539	0.16370	0.97835	0.77484	D	AEFB	0.932008	0.92170	D	-0.276935970065927	0.30041	1.671435	-0.031856219340626	0.38284	2.25339	0.999999996993668	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.48	4.48	0.53973	7.140000	0.76912	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1541:0.8459:0.0	13.851	0.62994	761	0.50382	.;.;.;.;.	.	.	XYLT2	Esophagus_Muscularis	.	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	0.017623	0.005051	0.012228	0.032164	0.000000	0.008621	0.018293	0.030303	0.05	1439.43	38	chr17	49707012	.	G	C	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.512;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.31;SOR=0.666	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1451,0,1690	9	0	1	0
chr17	50196495	50196495	G	A	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon13:c.C892T:p.P298S	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.62050387747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.072	0.43344	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.06	0.96529	D	-5.46	0.85541	D	0.673	0.68082	1.062	0.98376	D	0.930	0.97686	D	10	0.8667029	0.85917	D	0.620504	0.96713	D	0.821	0.94276	0.516	0.61611	0.798066558276	0.79618	0.9033926953971392	0.90312	0.56717705371	0.52986	0.746080160141	0.73868	T	.	.	.	0.244205	0.78057	D	0.113007	0.77772	D	0.995963156223297	0.88404	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.	.	4.045540	0.59928	24.2	0.99522978881899948	0.69346	0.93910	0.59546	D	AEFGBHCI	0.959621	0.98003	D	0.808552054789933	0.86638	8.950081	0.770795451238433	0.87701	9.313727	0.999999999999944	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.02	5.02	0.66742	10.003000	0.99689	11.898000	0.99275	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.117	0.86568	894	0.26265	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1106.43	35	chr17	50196495	.	G	A	1106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.54;SOR=0.698	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1118,0,1203	9	0	1	0
chr17	50863764	50863764	T	A	exonic	TOB1	.	nonsynonymous SNV	TOB1:NM_005749:exon2:c.A254T:p.N85I,TOB1:NM_001243877:exon3:c.A254T:p.N85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.119174689701	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201762176	4.104e-06	4.104e-06	2.722e-06	5.5e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	6.569e-06	6.563e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.01	0.56456	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	0.75	0.50192	T	-8.14	0.96736	D	0.883	0.91505	-0.4992	0.68679	T	0.286	0.65753	T	10	0.8341868	0.82576	D	0.119175	0.79941	D	0.575	0.82799	.	.	0.302481332339	0.29867	0.7272682016100377	0.72670	1.16231426647	0.79529	0.726274251938	0.70963	T	0.526481	0.83535	D	0.12923	0.67286	D	-0.0521459	0.66875	D	0.997474253177643	0.91644	D	0.966203	0.87589	D	0.9251667	0.93755	0.8493329	0.91460	0.9251667	0.93756	0.8493329	0.91460	-8.175	0.62256	D	.	.	0.951	0.86985	P	.;.	.;.	5.142742	0.86108	28.8	0.98615455012660025	0.43704	0.97450	0.74827	D	AEFGBCI	0.917556	0.88533	D	0.788498541575692	0.85380	8.558886	0.787177275970372	0.88887	9.754481	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.674000	0.83146	7.951000	0.75833	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.155	0.81470	883	0.28872	Anti-proliferative protein|Anti-proliferative protein|Anti-proliferative protein;Anti-proliferative protein|Anti-proliferative protein|Anti-proliferative protein	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2254.43	38	chr17	50863764	.	T	A	2254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.743;DP=578;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.278;SOR=0.709	GT:AD:DP:GQ:PL	0/1:63,91:154:99:2266,0,1602	9	0	1	0
chr17	56449184	56449184	G	A	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon10:c.G1214A:p.R405Q,ANKFN1:NM_001365758:exon11:c.G1001A:p.R334Q,ANKFN1:NM_001370326:exon11:c.G1205A:p.R402Q	.	432	1085	5	0	0	5	0.00229885	0.0019	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0131572044852	0.0017	0.00159744	0.0021	0.0004	0.0003	0.0001	0.0005	0.0019	0.0011	0.0072	0.002031	314	154602	rs7224861	0.0021	0.0022	0.0020	0.0023	0.0073	0.0021	0.0021	0.0068	0.0066	0.0002	0.0004	0.0029	0	0.0004	0.0012	0.0020	0.0023	0.0073	0.0013	0.0013	0.0013	0.0013	0.0046	0.0011	0.0011	0.0031	0.0026	0.0003	0	0.0006	0.0029	0	0.0002	0.0034	0.0020	0.0019	0.0046	0.68	0.04430	T	0.292	0.20877	T	0.824	0.45836	P	0.084	0.29270	B	0.000899	0.41231	D	0.246105	0.999954	0.52396	D	1.67	0.42885	L	1.52	0.30669	T	-0.16	0.09460	N	0.428	0.46742	-1.0777	0.07801	T	0.039	0.16978	T	10	0.009422928	0.00213	T	0.013157	0.32344	T	0.174	0.44019	.	.	0.6928222551	0.69017	0.17718402340767386	0.17637	0.437093219509	0.43779	0.438164710999	0.30327	T	0.015482	0.12979	T	-0.40189	0.02250	T	-0.345639	0.39705	T	0.0347236221552785	0.02761	T	0.922708	0.71908	D	0.13480529	0.31308	0.10890481	0.26241	0.13480529	0.31308	0.10890481	0.26241	-4.383	0.29326	T	.	.	0.093	0.14015	B	.;.;.	.;.;.	3.599543	0.50833	23.0	0.98135030248591648	0.38555	0.90743	0.52177	D	AEFDBHCI	0.884187	0.81367	D	0.299931784593791	0.56145	3.778909	0.413814966027538	0.62423	4.457588	0.999847339463481	0.43971	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.25	5.25	0.73169	8.953000	0.92934	9.854000	0.82009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.850	0.92195	163	0.93656	.;.;.	.	.	.	.	.	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	0.002020	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.05	503.43	33	chr17	56449184	.	G	A	503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=374;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.32;SOR=0.927	GT:AD:DP:GQ:PL	0/1:30,22:52:99:515,0,693	9	0	1	0
chr17	57000909	57000909	T	C	exonic	SCPEP1	.	nonsynonymous SNV	SCPEP1:NM_021626:exon11:c.T1049C:p.I350T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2348520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.368	0.0166617283749	0.0002	.	0.0001	9.61e-05	8.637e-05	0	0	0.0002	0	0	0.00011	17	154602	rs140053634	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.961e-05	0.0002	0	0	9.36e-05	0.0009	0.0002	8.279e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.703e-05	0.0001	0.0001	0.0001	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.001	0.78490	D	0.128	0.34959	T	0.996	0.68779	D	0.946	0.68276	D	0.000000	0.84330	D	0.048223	0.999984	0.54805	D	2.1	0.58353	M	0.91	0.44856	T	-4.45	0.77717	D	0.347	0.38848	-0.8158	0.54196	T	0.218	0.58111	T	10	0.51863706	0.62513	D	0.016662	0.38021	T	0.368	0.68757	.	.	0.786719740753	0.78474	0.6671658437142375	0.66654	0.219899819912	0.24531	0.415551185608	0.27223	T	0.712548	0.91812	D	-0.238852	0.15494	T	-0.296157	0.45128	T	0.309376358985901	0.25389	T	0.874113	0.58433	D	0.59106493	0.72209	0.64729214	0.79374	0.59106493	0.72210	0.64729214	0.79375	-8.19	0.62358	D	.	.	0.192	0.41125	B	.	.	3.149112	0.42619	21.6	0.99341823034019616	0.60210	0.95018	0.63140	D	AEFBI	0.610549	0.59934	D	0.302747594091666	0.56290	3.793431	0.217334887036376	0.50809	3.269128	0.999999901722103	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.983000	0.56625	6.097000	0.53509	0.665000	0.62972	1.000000	0.71638	0.977000	0.30130	0.412000	0.27050	0.0:0.0:0.0:1.0	16.025	0.80337	38	0.97995	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1757.43	33	chr17	57000909	.	T	C	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=467;ExcessHet=0;FS=2.104;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.755;SOR=0.906	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1769,0,1609	9	0	1	0
chr17	58358587	58358587	G	A	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon8:c.C808T:p.R270W,RNF43:NM_001305544:exon9:c.C1189T:p.R397W,RNF43:NM_017763:exon9:c.C1189T:p.R397W	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2142107	not_specified|not_provided|Sessile_serrated_polyposis_cancer_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014919,MedGen:C4310714,OMIM:617108,Orphanet:157798	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00781078135507	.	0.000199681	3.005e-05	0	0	0	0	5.231e-05	0	0	1.94e-05	3	154602	rs531889929	1.738e-05	1.915e-05	1.241e-05	2.242e-05	0.0002	1.193e-05	1.008e-05	8.304e-05	6.478e-05	0	0	0	0	0	0.0002	1.091e-05	0	0.0001	6.564e-06	6.561e-06	0	1.342e-05	6.533e-05	0	0	.	.	0	0	6.533e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.054	0.47097	T	0.001	0.07471	B	0.0	0.04355	B	0.248418	0.03631	N	1.499860	1	0.08975	N	2.2	0.62015	M	3.18	0.10674	T	-1.7	0.40468	N	0.144	0.17553	-0.9496	0.41040	T	0.013	0.05273	T	10	0.071103394	0.10435	T	0.007811	0.20720	T	0.094	0.27141	.	.	0.201204373187	0.19734	0.2942340430823508	0.29336	0.417580683729	0.42372	0.523838102818	0.42167	T	0.050547	0.28626	T	-0.453333	0.01079	T	-0.673623	0.07378	T	0.288898408412933	0.24544	T	0.771723	0.40231	T	0.08403536	0.19431	0.07432947	0.16250	0.08403536	0.19431	0.07432947	0.16249	-4.162	0.26838	T	.	.	0.082	0.10739	B	.;.;.;.;.;.	.;.;.;.;.;.	1.826269	0.23208	15.93	0.98834939807376476	0.47018	0.07407	0.13427	N	AEFDBI	0.162253	0.28841	N	-1.08410536417481	0.06935	0.3207131	-1.13061038005924	0.07121	0.3451963	0.999976798579332	0.50053	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	4.0	-2.67	0.05703	1.209000	0.31963	0.214000	0.15995	-0.950000	0.02036	0.010000	0.18352	0.000000	0.08366	0.108000	0.18652	0.3114:0.1605:0.239:0.2892	0.096	0.00040	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	439.43	37	chr17	58358587	.	G	A	439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=390;ExcessHet=0;FS=4.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.906;SOR=1.093	GT:AD:DP:GQ:PL	0/1:37,18:55:99:451,0,991	9	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	277.63	33	chr17	59737489	.	A	C	277.63	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.301;DP=679;ExcessHet=1.5895;FS=224.077;InbreedingCoeff=-0.2515;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=0.862;SOR=9.94	GT:AD:DP:GQ:PL	0/1:64,26:90:38:38,0,890	6	0	4	0
chr17	59886182	59886182	T	C	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193609:exon3:c.A221G:p.N74S,TUBD1:NM_001193610:exon3:c.A221G:p.N74S,TUBD1:NM_001193611:exon3:c.A221G:p.N74S,TUBD1:NM_016261:exon3:c.A221G:p.N74S	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	0.0135783	0.0064	0.0002	0.0006	0.0001	0	1.499e-05	0.0011	0.0466	0.0056597	875	154602	rs201040289	0.0028	0.0028	0.0015	0.0042	0.0453	0.0028	0.0027	0.0441	0.0437	2.987e-05	0.0002	0	5.039e-05	0	0.0019	5.756e-05	0.0025	0.0453	0.0017	0.0017	0.0009	0.0025	0.0516	0.0015	0.0015	0.0464	0.0443	7.227e-05	0	0	0	0	0	0	5.881e-05	0.0005	0.0516	0.58	0.06502	T	0.819	0.03840	T	0.0	0.02946	B	0.004	0.10090	B	0.001951	0.37596	N	0.327620	1	0.81001	D	0.405	0.12330	N	-0.29	0.67712	T	-0.2	0.19085	N	0.103	0.10911	-0.9818	0.34585	T	0.108	0.39221	T	10	0.003237158	0.00055	T	.	.	.	0.182	0.45420	.	.	0.684108107852	0.68141	0.09561636850495012	0.09493	0.0844985976365	0.09546	0.277904838324	0.07202	T	0.02796	0.20362	T	-0.578542	0.00197	T	-0.570231	0.15428	T	0.0374760786522541	0.03239	T	0.829717	0.49530	T	0.025332084	0.01460	0.02642607	0.00731	0.025332084	0.01459	0.02642607	0.00731	-5.346	0.40396	T	.	.	0.057	0.01109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.279079	0.16785	12.76	0.99702145262555797	0.80729	0.76077	0.37285	D	AEFBCI	0.268109	0.38467	N	-0.244188195687849	0.31335	1.756045	-0.000410278594400869	0.39697	2.357733	0.00351535450105958	0.10154	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	4.97	0.65419	1.099000	0.30625	0.315000	0.17124	0.661000	0.55757	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:0.166:0.2871:0.5469	2.730	0.04902	475	0.77788	.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;.;.;.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.000000	0.000000	0.000000	0.008621	0.006135	0.022727	0.05	1304.43	36	chr17	59886182	.	T	C	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.061;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=2.83;SOR=0.629	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1316,0,883	9	0	1	0
chr17	60466382	60466382	T	C	exonic	APPBP2	.	nonsynonymous SNV	APPBP2:NM_001282476:exon4:c.A368G:p.D123G,APPBP2:NM_006380:exon5:c.A581G:p.D194G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0382456661025	.	0.000399361	0.0009	0	0	0	0	0	0.0011	0.0068	0.0007697	119	154602	rs527990986	0.0004	0.0004	0.0002	0.0006	0.0061	0.0003	0.0003	0.0056	0.0055	0	2.236e-05	0	0	0	0.0005	0	0.0002	0.0061	0.0001	0.0001	2.569e-05	0.0003	0.0043	9.141e-05	7.698e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.152	0.24468	T	0.362	0.16865	T	0.034	0.20480	B	0.019	0.18783	B	0.000000	0.84330	D	0.084546	1	0.81001	D	0.895	0.22405	L	-1.01	0.76168	T	-1.33	0.33197	N	0.555	0.58031	-0.6331	0.63439	T	0.299	0.67008	T	10	0.010114312	0.00226	T	0.038246	0.58108	D	0.350	0.67142	.	.	0.692213622676	0.68957	0.5213180295643729	0.52054	1.10781785835	0.77950	0.759954571724	0.75922	T	0.088271	0.38122	T	-0.259815	0.12921	T	-0.143371	0.59825	T	0.0828146110360638	0.10343	T	0.913009	0.68959	D	0.35710093	0.57615	0.25916505	0.51660	0.35710093	0.57615	0.25916505	0.51660	-4.24	0.27327	T	.	.	0.097	0.15921	B	.	.	3.906765	0.56943	23.8	0.98778308896737088	0.46080	0.98270	0.81120	D	AEFBI	0.883658	0.81274	D	-0.0166508395534706	0.41103	2.45257	0.17206293584783	0.48324	3.049721	0.999994964701747	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.575000	0.81761	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.007	0.71180	662	0.61715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	986.43	35	chr17	60466382	.	T	C	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.205;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.307;SOR=0.635	GT:AD:DP:GQ:PL	0/1:64,47:111:99:998,0,1499	9	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:21,13:34:34:34,0,282	2	0	6	2
chr17	62690293	62690293	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon26:c.C3880T:p.R1294C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0176484124096	.	0.000199681	8.648e-06	0	8.77e-05	0	0	0	0	0	1.29e-05	2	154602	rs539957418	8.227e-06	8.209e-06	1.091e-05	5.515e-06	0.0002	4.39e-06	3.47e-06	7.321e-05	5.186e-05	2.991e-05	0.0002	0	5.045e-05	0	0	9.006e-07	0	1.162e-05	4.594e-05	4.593e-05	5.137e-05	4.027e-05	0.0004	2.107e-05	1.525e-05	0.0002	0.0001	2.404e-05	0	0.0004	0	0	0	0	0	0	0	0.064	0.50132	T	0.004	0.74150	D	0.997	0.70673	D	0.803	0.58888	P	0.017349	0.27746	N	0.373963	0.999824	0.49512	D	1.935	0.51832	L	3.13	0.08014	T	-2.42	0.53096	N	0.644	0.67564	-1.1301	0.01777	T	0.033	0.14377	T	10	0.42580107	0.57165	T	0.017648	0.39432	T	0.162	0.41843	0.633	0.76921	0.15499578495	0.15088	.	.	1.26377591243	0.82109	0.485529541969	0.36819	T	0.230974	0.59718	T	-0.268843	0.11886	T	-0.398249	0.33588	T	0.443525642156601	0.30559	T	0.922108	0.72455	D	0.16985986	0.37527	0.083584964	0.19166	0.16985986	0.37527	0.083584964	0.19166	-11.187	0.80674	D	.	.	0.378	0.68322	A	.;.	.;.	5.015552	0.83322	28.0	0.99928894586617079	0.99222	0.75951	0.37215	D	AEFDGBHCI	0.183393	0.31072	N	0.402016605864809	0.61533	4.355767	0.409679747522015	0.62166	4.427685	0.999984245788339	0.51787	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.59	4.59	0.56297	1.716000	0.37601	5.793000	0.49883	0.524000	0.24156	0.992000	0.37556	1.000000	0.68203	0.902000	0.43815	0.3328:0.6672:0.0:0.0	10.663	0.44904	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	558.43	49	chr17	62690293	.	C	T	558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=437;ExcessHet=0;FS=13.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.983;SOR=2.262	GT:AD:DP:GQ:PL	0/1:45,24:69:99:570,0,1091	9	0	1	0
chr17	64452651	64452651	A	G	exonic	MILR1	.	nonsynonymous SNV	MILR1:NM_001085423:exon3:c.A152G:p.N51S,MILR1:NM_001291316:exon3:c.A152G:p.N51S,MILR1:NM_001369493:exon3:c.A152G:p.N51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943724004	0.0003	0.0002	0.0002	0.0004	0.0106	0.0003	0.0002	0.0087	0.0080	0	0	0	0	0	0	2.763e-05	0.0005	0.0106	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.47e-05	0	0.0081	.	.	.	0.051	0.53788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.27792	.	.	.	.	.	.	.	0.024773538	0.00693	T	.	.	.	.	.	.	.	.	.	0.05032861406408758	0.04975	.	.	.	.	.	0.015077	0.12713	T	.	.	.	.	.	.	.	.	.	0.712229	0.32987	T	.	.	.	.	.	.	.	.	-5.812	0.44679	T	0.4805473533885539	0.55928	0.108	0.27583	B	.;.;.	.;.;.	2.498316	0.32247	18.98	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.045000	0.29951	1.095000	0.24016	0.720000	0.85370	0.062000	0.21832	0.057000	0.21958	0.836000	0.39433	.	.	.	936	0.14734	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	529.43	34	chr17	64452651	.	A	G	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.725;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-0.726;SOR=0.703	GT:AD:DP:GQ:PL	0/1:49,25:74:99:541,0,1237	9	0	1	0
chr17	65537801	65537801	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon6:c.A1235G:p.N412S,AXIN2:NM_004655:exon6:c.A1235G:p.N412S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	0	1450	68	4	0	76	0.0255376	.	.	.	140180	Oligodontia-cancer_predisposition_syndrome|Colorectal_cancer|not_specified|AXIN2-related_disorder|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MedGen:CN169374|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0052	0.0109824	0.0255	0.0118	0.0246	0	0.0163	0.0171	0.0403	0.0720	0.0087386	1351	154602	rs115931022	0.0081	0.0082	0.0071	0.0091	0.0413	0.0079	0.0079	0.0402	0.0397	0.0049	0.0042	0.0110	5.144e-05	0.0075	0.0123	0.0060	0.0088	0.0413	0.0066	0.0066	0.0059	0.0075	0.0373	0.0063	0.0062	0.0328	0.0311	0.0045	0.0088	0.0046	0.0107	0	0.0074	0.0068	0.0064	0.0061	0.0373	0.711	0.04032	T	0.978	0.03232	T	0.0	0.02946	B	0.0	0.01387	B	0.564828	0.11299	N	0.831754	1	0.08975	N	.	.	.	-1.56	0.81815	D	0.92	0.01573	N	0.036	0.01911	-0.9358	0.43272	T	0.156	0.48790	T	10	0.0022900105	0.00034	T	.	.	.	0.119	0.33137	.	.	0.317667799068	0.31381	0.05896677085188693	0.05837	0.137606114231	0.15513	0.506385922432	0.39717	T	0.213036	0.57424	T	-0.588971	0.00170	T	-0.590929	0.13586	T	0.000142969275675003	0.00001	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.;.;.	.;.;.	-0.233198	0.02926	0.426	0.40458132405281355	0.02856	0.00666	0.02877	N	AEFBHCI	0.017376	0.00451	N	-1.31904659681124	0.03457	0.1544737	-1.27316756167192	0.04796	0.2271101	0.999999724797711	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.491896	0.07777	0	.	.	4.9	1.49	0.21966	0.023000	0.13424	0.568000	0.19578	-1.413000	0.01131	0.000000	0.06391	0.272000	0.24054	0.001000	0.02609	0.2494:0.4817:0.1226:0.1463	2.543	0.04444	913	0.21160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007606	0.005155	0.004087	0.017544	0.050000	0.000000	0.003106	0.015152	0.05	1176.43	39	chr17	65537801	.	T	C	1176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.312;DP=586;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.564;SOR=0.665	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1188,0,1300	9	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P,ABCA10:NM_080282:exon13:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.0625	117.73	36	chr17	69194391	.	T	G	117.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.796;DP=654;ExcessHet=0;FS=628.102;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.164;SOR=9.19	GT:AD:DP:GQ:PL	0/1:99,44:143:99:128,0,1729	7	0	1	2
chr17	73235565	73235565	-	TAAGATGATAGGACCA	exonic	C17orf80	.	stopgain	C17orf80:NM_001100621:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001100622:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001288770:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001288771:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001351264:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001351265:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_017941:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2921.39	33	chr17	73235565	.	G	GTAAGATGATAGGACCA	2921.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.081;DP=760;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=1.98;SOR=0.8	GT:AD:DP:GQ:PL	0/1:81,76:157:99:2933,0,3155	9	0	1	0
chr17	73236035	73236035	C	G	exonic	C17orf80	.	nonsynonymous SNV	C17orf80:NM_001100621:exon3:c.C553G:p.Q185E,C17orf80:NM_001100622:exon3:c.C553G:p.Q185E,C17orf80:NM_001288770:exon3:c.C553G:p.Q185E,C17orf80:NM_001288771:exon3:c.C553G:p.Q185E,C17orf80:NM_001351264:exon3:c.C553G:p.Q185E,C17orf80:NM_001351265:exon3:c.C553G:p.Q185E,C17orf80:NM_017941:exon3:c.C553G:p.Q185E	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00582151915491	.	0.000599042	0.0004	0	0	0	0	3.006e-05	0	0.0029	0.0003363	52	154602	rs564081929	0.0002	0.0002	9.12e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0003	3.597e-06	9.935e-05	0.0030	0.0001	0.0001	8.997e-05	0.0001	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.01	0.57480	D	0.456	0.12740	T	0.986	0.62824	D	0.775	0.59428	P	0.964496	0.08201	N	0.983418	1	0.08975	N	1.73	0.44655	L	1.65	0.27650	T	-1.87	0.43717	N	0.132	0.18376	-0.9349	0.43409	T	0.129	0.43706	T	10	0.0052781403	0.00115	T	0.005822	0.15131	T	0.075	0.21907	0.221	0.14371	0.117506650769	0.11410	0.017400652245767905	0.01695	0.170355777682	0.19206	.	.	.	0.028578	0.20668	T	-0.584994	0.00180	T	-0.616758	0.11442	T	0.110148750082047	0.13439	T	0.879912	0.61165	D	0.114024684	0.26923	0.14102693	0.33597	0.114024684	0.26922	0.14102693	0.33597	-2.947	0.09893	T	.	.	0.069	0.04277	B	.;.;.;.;.;.	.;.;.;.;.;.	2.943975	0.39155	20.9	0.94835533305519348	0.25619	0.12933	0.17566	N	AEFBI	0.054220	0.09838	N	-0.349276361158344	0.27299	1.496629	-0.481408430147474	0.22666	1.232253	0.991877320968134	0.32639	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	1.57	0.22490	0.799000	0.26688	2.364000	0.32389	-0.214000	0.08267	0.091000	0.22601	0.999000	0.35428	0.989000	0.64315	0.0:0.5384:0.4616:0.0	13.789	0.62620	416	0.81733	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	924.43	33	chr17	73236035	.	C	G	924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.256;DP=662;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.509;SOR=0.418	GT:AD:DP:GQ:PL	0/1:36,38:74:99:936,0,905	9	0	1	0
chr17	74344842	74344842	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon7:c.G664A:p.A222T	.	400	1113	9	0	0	9	0.00402685	.	.	.	727408	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.722	0.131045244326	0.0019	0.00139776	0.0026	0.0004	0.0015	0	0.0009	0.0032	0.0081	0.0043	0.002445	378	154602	rs34016821	0.0023	0.0023	0.0021	0.0024	0.0063	0.0022	0.0022	0.0047	0.0041	0.0003	0.0018	0.0046	2.519e-05	0.0010	0.0063	0.0022	0.0026	0.0047	0.0019	0.0019	0.0019	0.0019	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0	0.0030	0.0049	0	0.0008	0.0204	0.0026	0.0019	0.0041	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	1.985	0.53793	M	-0.78	0.73631	T	-4.0	0.74051	D	0.623	0.63798	0.099	0.84154	D	0.541	0.83065	D	9	0.035112053	0.01746	T	0.131045	0.81326	D	0.722	0.90191	.	.	0.895603428102	0.89457	0.5371819583033458	0.53643	0.680600731235	0.60007	0.598223686218	0.52653	T	0.392017	0.75179	T	-0.128646	0.31715	T	0.0421518	0.73068	D	0.0362551188062024	0.03025	T	0.810219	0.75038	T	0.52735984	0.68680	0.6823055	0.81327	0.52735984	0.68681	0.6823055	0.81328	-10.858	0.78873	D	.	.	0.958	0.87779	P	.;.	.;.	5.712651	0.93179	33	0.99921471427946362	0.98787	0.95128	0.63540	D	AEFDGBI	0.740181	0.68451	D	0.637508803447298	0.75562	6.328073	0.604808948241817	0.75289	6.284179	0.999999999996387	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	5.476000	0.66520	8.282000	0.76904	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.200	0.89769	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.002725	0.008772	0.000000	0.000000	0.000000	0.011364	0.05	411.43	36	chr17	74344842	.	G	A	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.994;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-1.093;SOR=0.776	GT:AD:DP:GQ:PL	0/1:40,23:63:99:423,0,926	9	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.1	1757.14	33	chr17	74854900	.	G	A	1757.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.489;DP=417;ExcessHet=0.2348;FS=2.996;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.13;SOR=0.782	GT:AD:DP:GQ:PL	0/1:33,38:71:99:989,0,793	8	0	2	0
chr17	74935803	74935803	T	C	exonic	OTOP3	.	startloss	OTOP3:NM_178233:exon1:c.T2C:p.M1?	.	429	1058	35	0	0	35	0.0162715	.	.	.	2808352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.307	0.240900684133	0.0028	0.000399361	0.0059	0	0.0074	0	0	0.0065	0	0.0075	0.000815	126	154602	rs368367098	0.0028	0.0027	0.0027	0.0029	0.0201	0.0027	0.0027	0.0171	0.0160	0.0005	0.0017	0.0002	0	0.0011	0.0201	0.0029	0.0034	0.0036	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0004	0.0022	0.0023	0.0003	0	0.0016	0.0374	0.0028	0.0038	0.0017	.	.	.	.	.	.	0.932	0.51990	P	0.775	0.57058	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.1759	0.00434	T	0.046	0.19599	T	8	0.013410479	0.00284	T	0.240901	0.88694	D	.	.	.	.	.	.	0.35152649025108534	0.35066	.	.	.	.	.	0.003197	0.02596	T	-0.281902	0.10467	T	-0.177991	0.56708	T	0.0652697690357915	0.07971	T	0.9	0.65058	D	0.8545362	0.87673	0.72875154	0.83974	0.8545362	0.87674	0.72875154	0.83975	-6.006	0.46330	T	.	.	.	.	.	.	.	2.574557	0.33367	19.32	0.95942560923393894	0.28247	0.66934	0.33252	D	AEFDBHCI	0.200952	0.32764	N	0.342361878231728	0.58337	4.005367	0.318435499155554	0.56623	3.825909	0.997488613492816	0.35668	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	1.947000	0.39919	4.911000	0.45953	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	9.377	0.37453	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006494	0.000000	0.000000	0.022936	0.000000	0.000000	0.000000	0.000000	0.05	375.43	33	chr17	74935803	.	T	C	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=397;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.068;SOR=1.127	GT:AD:DP:GQ:PL	0/1:23,17:40:99:387,0,569	9	0	1	0
chr17	76293438	76293438	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.G791A:p.R264Q	.	433	1065	22	2	0	26	0.0120594	.	.	.	2735961	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0076	0.00439297	0.0075	0.0020	0.0047	0.0003	0.0029	0.0112	0.0055	0.0041	0.0077554	1199	154602	rs146697124	0.0089	0.0089	0.0090	0.0089	0.0097	0.0088	0.0088	0.0096	0.0095	0.0011	0.0052	0.0339	0.0001	0.0035	0.0088	0.0097	0.0088	0.0038	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0096	0.0093	0.0014	0	0.0031	0.0332	0.0004	0.0040	0.0034	0.0102	0.0095	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.185	0.00856	N	3.21	0.07125	T	0.86	0.01712	N	0.033	0.00882	-0.9365	0.43164	T	0.006	0.01981	T	9	0.0038115978	0.00072	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.011023699316843768	0.01063	0.18710114538	0.21023	0.179027408361	0.00085	T	0.001195	0.00692	T	-0.785051	0.00010	T	-0.888772	0.00585	T	0.00163021575346866	0.00017	T	0.457154	0.13128	T	0.018621963	0.00384	0.025948703	0.00660	0.015293754	0.00131	0.025948703	0.00660	-3.354	0.14444	T	.	.	0.070	0.03372	B	.;.	.;.	0.150093	0.05423	1.898	0.35140611901603958	0.02189	0.02477	0.06943	N	AEFGBCI	0.014543	0.00236	N	-1.48470567004525	0.01957	0.08595295	-1.46775751333897	0.02613	0.1204818	3.75983502827641E-5	0.03775	0.500041	0.20204	0	0.624306	0.53593	0	0.463624	0.06942	0	0.508809	0.08732	0	.	.	3.98	0.23	0.14643	-0.582000	0.05907	.	.	-0.139000	0.12461	0.000000	0.06391	0.025000	0.21018	0.001000	0.02609	0.3641:0.1017:0.1625:0.3716	0.846	0.01088	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009567	0.000000	0.010870	0.002924	0.000000	0.008621	0.006098	0.018939	0.05	2514.43	35	chr17	76293438	.	C	T	2514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.38;DP=903;ExcessHet=0;FS=4.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.19;ReadPosRankSum=-0.357;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,67:131:99:0|1:76293419_G_A:2526,0,2410:76293419	9	0	1	0
chr17	76778326	76778326	C	G	exonic	MFSD11	.	nonsynonymous SNV	MFSD11:NM_001242536:exon12:c.C1168G:p.R390G,MFSD11:NM_001242537:exon12:c.C1168G:p.R390G,MFSD11:NM_001242532:exon13:c.C1324G:p.R442G,MFSD11:NM_001242533:exon14:c.C1324G:p.R442G,MFSD11:NM_001242534:exon14:c.C1324G:p.R442G,MFSD11:NM_001242535:exon14:c.C1324G:p.R442G,MFSD11:NM_001353017:exon14:c.C1324G:p.R442G,MFSD11:NM_001353018:exon14:c.C1324G:p.R442G,MFSD11:NM_001353019:exon14:c.C1324G:p.R442G,MFSD11:NM_024311:exon14:c.C1324G:p.R442G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0183496292588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.67890	D	0.071	0.23930	B	0.015	0.17295	B	0.000004	0.62929	D	0.106725	0.998617	0.46865	D	2.8	0.81625	M	3.24	0.10291	T	-2.28	0.52451	N	0.484	0.55106	-1.0580	0.12260	T	0.024	0.10148	T	10	0.14210534	0.26994	T	0.01835	0.40384	T	0.073	0.21317	0.379	0.39482	0.0954503805726	0.09146	0.8729549221987506	0.87261	0.413097410689	0.42030	0.48746573925	0.37088	T	0.060401	0.31377	T	-0.130601	0.31398	T	-0.425376	0.30461	T	0.92708694934845	0.58974	D	0.918808	0.70803	D	0.2842441	0.51452	0.22806057	0.47835	0.2842441	0.51452	0.22806057	0.47834	-4.218	0.27011	T	.	.	0.167	0.36791	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.907821	0.38565	20.8	0.99359713535508731	0.60946	0.97752	0.76876	D	AEFBI	0.485213	0.52490	N	-0.273095080317508	0.30190	1.681127	-0.136708994764359	0.33924	1.94575	0.016787488056102	0.12873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.05	0.46415	2.218000	0.42530	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.143000	0.20056	0.3346:0.5503:0.1151:0.0	10.924	0.46395	827	0.39843	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1644.43	34	chr17	76778326	.	C	G	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.327;DP=447;ExcessHet=0;FS=2.378;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.151;SOR=0.961	GT:AD:DP:GQ:PL	0/1:56,68:124:99:1656,0,1214	9	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2495.14	33	chr17	78171999	.	G	C	2495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=474;ExcessHet=0.2348;FS=2.702;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.89;MQRankSum=0;QD=12.8;ReadPosRankSum=0.374;SOR=0.941	GT:AD:DP:GQ:PL	0/1:49,36:85:99:1032,0,1384	8	0	2	0
chr17	78812937	78812937	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon12:c.G835A:p.G279S,USP36:NM_001385178:exon12:c.G835A:p.G279S,USP36:NM_001385180:exon12:c.G673A:p.G225S,USP36:NM_001321291:exon13:c.G1330A:p.G444S,USP36:NM_001385169:exon13:c.G1330A:p.G444S,USP36:NM_001385170:exon13:c.G1330A:p.G444S,USP36:NM_001385171:exon13:c.G1330A:p.G444S,USP36:NM_001385173:exon13:c.G1330A:p.G444S,USP36:NM_001385174:exon13:c.G1330A:p.G444S,USP36:NM_001385175:exon13:c.G1330A:p.G444S,USP36:NM_001385176:exon13:c.G1330A:p.G444S,USP36:NM_001385179:exon13:c.G700A:p.G234S,USP36:NM_001385172:exon14:c.G1330A:p.G444S	.	423	1095	4	0	0	4	0.00182315	.	.	.	715756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0078	0.00239617	0.0060	0.0020	0.0016	0	0.0027	0.0098	0.0077	0.0005	0.006203	959	154602	rs117840411	0.0096	0.0096	0.0099	0.0093	0.0118	0.0095	0.0094	0.0116	0.0115	0.0018	0.0021	0.0035	0	0.0031	0.0023	0.0118	0.0071	0.0010	0.0057	0.0057	0.0062	0.0052	0.0100	0.0054	0.0053	0.0094	0.0091	0.0024	0.0022	0.0029	0.0035	0	0.0019	0	0.0100	0.0057	0.0006	1.0	0.00964	T	0.474	0.23029	T	0.0	0.02946	B	0.003	0.08700	B	0.064251	0.21966	N	0.546151	1	0.08975	N	-0.895	0.01383	N	3.3	0.16217	T	-1.83	0.42957	N	0.107	0.13626	-0.9714	0.36904	T	0.009	0.03403	T	10	0.0033639967	0.00059	T	.	.	.	0.025	0.05312	.	.	0.0920862733494	0.08535	0.16209183721105924	0.16130	0.0697944257895	0.07817	0.270783722401	0.06243	T	0.013594	0.16575	T	-0.717306	0.00029	T	-0.792749	0.02090	T	0.00189968842772483	0.00019	T	0.59724	0.22223	T	0.08094391	0.18573	0.050861277	0.08067	0.08094391	0.18573	0.050861277	0.08066	-1.594	0.01968	T	.	.	0.072	0.06387	B	.;.;.;.	.;.;.;.	-0.486531	0.01911	0.159	0.54832814248038975	0.05217	0.01097	0.04030	N	AEFDBI	0.021716	0.00998	N	-1.75227287833969	0.00673	0.02902292	-1.72628161309999	0.01026	0.04601851	0.98423523691446	0.30685	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	-2.88	0.05342	-0.240000	0.08970	-1.161000	0.06152	-2.079000	0.00404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3369:0.2732:0.3899	5.478	0.16002	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002523	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.011364	0.05	1628.43	43	chr17	78812937	.	C	T	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=478;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.55;SOR=0.609	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1640,0,1475	9	0	1	0
chr17	82081769	82081769	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon37:c.G6238A:p.V2080I	.	.	.	.	.	.	.	.	.	.	.	467727	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.042255236126	.	.	8.489e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs766446511	9.587e-06	9.577e-06	8.176e-06	1.101e-05	4.472e-05	5.56e-06	4.35e-06	7.41e-06	2.77e-06	0	4.472e-05	7.653e-05	0	1.925e-05	0	7.194e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.02436	T	0.8	0.04066	T	0.001	0.07471	B	0.006	0.12133	B	0.002989	0.35606	N	0.268092	0.999905	0.19694	N	-0.72	0.01791	N	1.78	0.25678	T	-0.18	0.09796	N	0.075	0.08088	-0.9725	0.36670	T	0.015	0.06090	T	10	0.040068626	0.02546	T	0.042255	0.60367	D	0.036	0.09122	0.343	0.33626	0.171220215726	0.16700	0.13875362443298797	0.13798	.	.	0.304535120726	0.11081	T	0.258727	0.62991	T	-0.451272	0.01110	T	-0.71015	0.05287	T	0.0184988421316662	0.00566	T	0.805919	0.45429	T	0.061256893	0.12665	0.044182636	0.05666	0.061256893	0.12665	0.044182636	0.05665	-3.083	0.11102	T	.	.	0.070	0.03443	B	.;.	.;.	-0.829303	0.01051	0.045	0.33598804749917011	0.02010	0.68803	0.33941	D	AEFDGBHCI	0.094996	0.19200	N	-1.58294585894376	0.01352	0.05890653	-1.47685422598301	0.02535	0.1167565	0.853558214495612	0.25090	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	-1.72	0.07671	0.129000	0.15656	-5.033000	0.01877	-1.064000	0.01611	0.964000	0.33853	0.000000	0.08366	0.000000	0.00833	0.0:0.5001:0.0:0.4999	12.628	0.56002	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2083.43	66	chr17	82081769	.	C	T	2083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=607;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.62;SOR=0.616	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2095,0,2131	9	0	1	0
chr17	82082654	82082654	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon34:c.G5792A:p.R1931Q	.	3	1518	1	0	0	1	0.000329272	.	.	.	532051	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00674757097754	0.0008	0.000998403	0.0003	0.0018	0.0003	0	0	8.043e-05	0.0012	0.0002	0.0002199	34	154602	rs148840593	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0017	0.0016	0.0021	0.0003	0	0.0003	2.015e-05	0.0017	3.418e-05	0.0002	0.0002	0.0007	0.0007	0.0007	0.0006	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0001	0	0	0	0.0034	5.88e-05	0.0005	0	0.498	0.07797	T	0.393	0.17478	T	0.0	0.02946	B	0.001	0.04355	B	0.002507	0.36425	N	0.267827	0.999821	0.20203	N	1.005	0.25186	L	1.02	0.40749	T	-0.15	0.09297	N	0.173	0.18512	-1.0521	0.13818	T	0.061	0.25455	T	10	0.01549536	0.00325	T	0.006748	0.17840	T	0.050	0.13987	.	.	0.196089822672	0.19227	0.2991452484161038	0.29827	.	.	0.356190770864	0.18829	T	0.272486	0.64487	T	-0.620177	0.00110	T	-0.669166	0.07662	T	0.0148213349418483	0.00312	T	0.630737	0.24588	T	0.18019292	0.39128	0.056201965	0.09999	0.18019292	0.39127	0.056201965	0.09999	-2.869	0.08837	T	.	.	0.068	0.02765	B	.;.	.;.	1.869185	0.23742	16.13	0.7276514664502266	0.10088	0.61468	0.31493	D	AEFBHCI	0.083218	0.16858	N	-0.658788810407579	0.17204	0.8833234	-0.533336582978874	0.21249	1.148671	0.932199087745562	0.27079	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.62	3.54	0.39650	2.529000	0.45292	1.437000	0.26495	-0.153000	0.12021	0.937000	0.32526	0.192000	0.23504	0.002000	0.04165	0.0:0.0825:0.159:0.7584	6.322	0.20428	.	.	Polyketide synthase, ketoreductase domain;Polyketide synthase, ketoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004036	0.000000	0.006812	0.005917	0.000000	0.008621	0.000000	0.003788	0.05	225.43	32	chr17	82082654	.	C	T	225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=278;ExcessHet=0;FS=4.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.568;SOR=2.303	GT:AD:DP:GQ:PL	0/1:13,9:22:99:237,0,298	9	0	1	0
chr17	82582894	82582894	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon5:c.G1063A:p.V355M	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.177455073429	7.7e-05	0.000399361	0.0001	0.0002	0	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs144516241	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0010	0.0007	0.0002	4.599e-05	7.691e-05	0	1.887e-05	0.0018	0.0001	0.0002	0.0003	9.195e-05	9.186e-05	5.14e-05	0.0001	0.0004	5.525e-05	4.363e-05	7.287e-05	5.087e-05	0	0	0	0	0	9.432e-05	0.0034	0.0001	0.0005	0.0004	0.002	0.72154	D	0.015	0.61642	D	0.939	0.52645	P	0.5	0.47649	P	0.000001	0.62929	D	0.056512	1	0.81001	D	2.36	0.67893	M	-3.33	0.95891	D	-2.86	0.60188	D	0.571	0.59393	0.813	0.94569	D	0.848	0.94933	D	10	0.27218765	0.44761	T	0.177455	0.85290	D	0.510	0.78971	.	.	0.765658948725	0.76351	0.5614449098166626	0.56071	0.334266525191	0.35447	0.798527061939	0.81739	T	0.459379	0.79698	T	0.0614233	0.59791	T	0.164712	0.81092	D	0.31737145781517	0.25715	T	0.943106	0.78551	D	0.43314588	0.62957	0.51842636	0.72176	0.43314588	0.62958	0.51842636	0.72176	-8.479	0.64290	D	.	.	0.566	0.67458	P	.;.;.	.;.;.	5.099620	0.85202	28.5	0.99909740378296685	0.97949	0.99408	0.95647	D	AEFBI	0.928984	0.91404	D	0.743522557746792	0.82483	7.773525	0.813138054844017	0.90691	10.52411	0.999999999999892	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	9.810000	0.98267	11.763000	0.95675	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	.	.	.;.;.	.	.	.	.	.	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	0.002016	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	440.43	36	chr17	82582894	.	G	A	440.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.043;DP=358;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.378;SOR=0.446	GT:AD:DP:GQ:PL	0/1:24,20:44:99:452,0,572	9	0	1	0
chr18	2847889	2847889	A	G	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.A215G:p.Y72C	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.148600782301	.	0.00119808	0.0009	0	0	0	0	1.521e-05	0	0.0067	0.0007633	118	154602	rs575376753	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	0	0	0	0	0	0.0004	3.598e-06	0.0005	0.0058	0.0002	0.0002	7.714e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.408e-05	0	0	0	0	0	0	0	0	0.0060	0.022	0.48642	D	0.009	0.66756	D	0.999	0.77913	D	0.962	0.70672	D	0.000028	0.55875	D	0.000000	0.996104	0.43019	D	2.685	0.78553	M	0.89	0.45636	T	-5.66	0.87063	D	0.775	0.77226	-0.6190	0.64030	T	0.251	0.62073	T	10	0.01813358	0.00392	T	0.148601	0.83050	D	0.328	0.65026	0.779	0.90388	0.597594485103	0.59439	0.6926829095650934	0.69208	0.520452191899	0.49844	0.633067429066	0.57581	T	0.299502	0.67203	T	-0.293899	0.09249	T	-0.192052	0.55397	T	0.196870964861962	0.20242	T	0.812119	0.46368	T	0.6148624	0.73489	0.66490734	0.80354	0.6148624	0.73490	0.66490734	0.80355	-9.411	0.70304	D	.	.	0.569	0.67577	P	.	.	4.930089	0.81271	27.5	0.99739096400838489	0.83337	0.90167	0.51132	D	ALL	0.738973	0.68368	D	0.555838050255534	0.70439	5.501581	0.50153971927306	0.68096	5.172883	0.999999905545182	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.46	4.28	0.50183	4.640000	0.61065	8.889000	0.78353	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8595:0.1405:0.0:0.0	12.430	0.54905	911	0.21964	EMI domain|EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	996.43	33	chr18	2847889	.	A	G	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.673;DP=383;ExcessHet=0;FS=5.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.12;SOR=0.247	GT:AD:DP:GQ:PL	0/1:21,43:64:99:1008,0,466	9	0	1	0
chr18	3188947	3188947	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C572T:p.T191M,MYOM1:NM_019856:exon4:c.C572T:p.T191M	.	428	1093	1	0	0	1	0.000457247	.	.	.	532358	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.00264655259875	0.0002	0.000599042	0.0006	0.0008	8.64e-05	0	0	0.0001	0.0033	0.0035	0.0005175	80	154602	rs191505313	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	0.0002	0.0001	0	5.1e-05	1.879e-05	0.0005	7.26e-05	0.0002	0.0038	0.0003	0.0003	0.0002	0.0003	0.0036	0.0002	0.0002	0.0023	0.0019	0.0004	0	0.0001	0	0.0002	0	0	8.843e-05	0	0.0036	0.013	0.53900	D	0.097	0.40747	T	0.343	0.33512	B	0.099	0.30579	B	0.460697	0.12395	U	0.487974	1	0.08975	N	0	0.06538	N	0.9	0.49919	T	-0.01	0.07882	N	0.136	0.13341	-1.0506	0.14230	T	0.058	0.24242	T	10	0.0052524507	0.00115	T	0.002647	0.05406	T	0.072	0.21020	.	.	0.342865806769	0.33904	0.1413166893672989	0.14054	0.143490453161	0.16199	0.268105596304	0.05895	T	0.015016	0.12674	T	-0.489985	0.00650	T	-0.478711	0.24583	T	0.0143017170076648	0.00285	T	0.675032	0.28847	T	0.01710882	0.00246	0.03765141	0.03462	0.016993567	0.00237	0.039139763	0.03939	-8.618	0.65438	D	.	.	0.283	0.51959	B	.;.;.	.;.;.	1.330771	0.17359	13.12	0.8479877876880999	0.15504	0.01576	0.05139	N	AEFGBI	0.044316	0.07114	N	-0.983568528535678	0.08954	0.4218599	-1.05111903304481	0.08684	0.4281748	0.969021436352558	0.29096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	1.5	1.5	0.22029	-0.160000	0.10029	-1.786000	0.04729	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	6.413	0.20905	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	3476.43	54	chr18	3188947	.	G	A	3476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=3.4;SOR=0.665	GT:AD:DP:GQ:PL	0/1:119,137:256:99:3488,0,2792	9	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:21,8:29:53:53,0,415	3	0	6	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:189,24:213:99:115,0,4881	2	0	8	0
chr18	22993611	22993611	A	G	exonic	RBBP8	.	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1784G:p.E595G,RBBP8:NM_203291:exon11:c.A1784G:p.E595G,RBBP8:NM_203292:exon11:c.A1784G:p.E595G	Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0133261006627	.	.	8.28e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775293996	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.101	0.38596	T	0.682	0.41464	P	0.255	0.39216	B	0.014793	0.28429	N	0.297899	0.767294	0.34109	D	.	.	.	1.35	0.35590	T	-2.68	0.59226	D	0.392	0.62526	-1.0157	0.25110	T	0.108	0.39123	T	10	0.24668676	0.41937	T	0.013326	0.32649	T	0.049	0.13647	0.296	0.26041	0.537216399577	0.53373	0.09258237550509744	0.09190	0.168900827507	0.19044	0.379694908857	0.22214	T	0.633531	0.88672	D	-0.158468	0.26998	T	-0.36855	0.37058	T	0.858604609966278	0.50924	D	0.838616	0.51225	T	0.09767423	0.23027	0.17560548	0.40038	0.09767423	0.23027	0.17560548	0.40037	-3.857	0.23683	T	0.5823436546982556	0.64916	0.101	0.28174	B	.;.;.;.;.	.;.;.;.;.	3.410416	0.47304	22.4	0.99794785720603574	0.88017	0.95057	0.63281	D	AEFGBI	0.595897	0.59027	D	0.36708336109311	0.59646	4.145901	0.462948182464366	0.65551	4.838308	0.999556512726071	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	4.302000	0.58887	6.896000	0.56856	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.8572:0.0:0.0:0.1428	10.628	0.44709	937	0.14592	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1153.43	35	chr18	22993611	.	A	G	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.175;DP=441;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.06;SOR=0.897	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1165,0,1684	9	0	1	0
chr18	23136198	23136198	C	G	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.C436G:p.L146V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.183003954255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.494	0.11407	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999748	0.48716	D	0.695	0.17993	N	0.85	0.47130	T	-0.19	0.09965	N	0.107	0.09207	-1.0586	0.12108	T	0.085	0.33185	T	9	0.09517419	0.16979	T	0.183004	0.85657	D	0.073	0.21317	0.089	0.00982	0.225902525712	0.22197	0.14296103350842468	0.14219	1.14508194576	0.79051	0.792126655579	0.80765	T	0.029675	0.21209	T	-0.23759	0.15658	T	-0.579058	0.14628	T	0.109742569462285	0.13397	T	0.49515	0.15352	T	0.14540468	0.33332	0.110157035	0.26557	0.14540468	0.33332	0.110157035	0.26557	-4.971	0.36523	T	.	.	0.061	0.01161	B	.	.	1.555955	0.19936	14.51	0.77631832237655463	0.11957	0.02744	0.07423	N	AEFDBHCIJ	0.063684	0.12322	N	-0.913976402619673	0.10515	0.5028142	-0.967365333262658	0.10522	0.5305269	0.999999433560227	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	2.09	2.09	0.26154	0.781000	0.26435	3.277000	0.37202	0.432000	0.20950	0.001000	0.13787	0.981000	0.30433	0.026000	0.12556	0.0:1.0:0.0:0.0	7.655	0.27538	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	248.43	22	chr18	23136198	.	C	G	248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.693;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.89;SOR=1.085	GT:AD:DP:GQ:PL	0/1:8,10:18:99:260,0,178	9	0	1	0
chr18	24159928	24159928	C	T	exonic	CABYR	.	nonsynonymous SNV	CABYR:NM_138643:exon3:c.C704T:p.S235F,CABYR:NM_138644:exon5:c.C998T:p.S333F,CABYR:NM_153769:exon5:c.C998T:p.S333F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0328141312055	.	0.000599042	0.0002	0	8.637e-05	0	0	0	0	0.0017	0.000207	32	154602	rs575183641	0.0001	0.0002	8.303e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0020	0	0	0	0	0	0.0002	0	0.0001	0.0024	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	.	.	.	.	.	.	.	.	.	.	0.34	0.58176	T	-1.75	0.58733	N	0.793	0.83167	-0.6126	0.64296	T	0.233	0.59904	T	9	0.12684605	0.24117	T	0.032814	0.54540	D	0.220	0.51569	0.459	0.52590	0.692475202585	0.68983	.	.	0.528918376042	0.50453	.	.	.	.	.	.	-0.329771	0.06129	T	-0.252946	0.49526	T	0.230367662698453	0.21969	T	0.752425	0.48487	T	.	.	.	.	.	.	.	.	-5.613	0.45102	T	.	.	0.551	0.66820	A	.;.;.	.;.;.	4.707856	0.75603	26.4	0.9981745863177357	0.90061	0.90694	0.52085	D	AEFGBI	0.482350	0.52325	N	0.54386405855352	0.69708	5.395687	0.578490697831354	0.73400	5.964309	0.999995549872913	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.51	5.51	0.81769	3.030000	0.49407	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.187	0.86751	949	0.11373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1392.43	35	chr18	24159928	.	C	T	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.243;DP=449;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.601;SOR=0.793	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1404,0,1489	9	0	1	0
chr18	26133996	26133996	G	C	exonic	PSMA8	.	nonsynonymous SNV	PSMA8:NM_001025096:exon1:c.G31C:p.V11L,PSMA8:NM_001025097:exon1:c.G31C:p.V11L,PSMA8:NM_144662:exon1:c.G31C:p.V11L	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.043441999963	.	0.00119808	0.0008	0	0.0002	0.0001	0	0	0.0011	0.0058	0.0006856	106	154602	rs550786252	0.0003	0.0003	0.0001	0.0005	0.0051	0.0003	0.0003	0.0048	0.0046	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	1.799e-06	0.0003	0.0051	0.0002	0.0002	6.425e-05	0.0003	0.0050	0.0001	9.233e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.003	0.72154	D	0.025	0.56192	D	0.08	0.25584	B	0.076	0.32546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.95	0.43279	T	-2.08	0.50502	N	0.723	0.75559	-0.8076	0.54695	T	0.165	0.50340	T	10	0.021186411	0.00502	T	0.043442	0.60987	D	0.277	0.59375	0.697	0.83406	0.411401001288	0.40751	0.5059640973157141	0.50518	0.585436117462	0.54184	0.889961063862	0.95256	D	0.115793	0.43464	T	-0.200419	0.20745	T	-0.0592983	0.66382	T	0.142721730910002	0.16507	T	0.986101	0.95276	D	0.6918406	0.77611	0.81663495	0.89323	0.6918406	0.77612	0.81663495	0.89324	-12.374	0.87160	D	.	.	0.874	0.81386	P	.;.;.	.;.;.	4.477745	0.69836	25.4	0.98087640942309162	0.38157	0.94045	0.59947	D	ALL	0.918005	0.88643	D	0.356248354720923	0.59072	4.083559	0.471276387710045	0.66093	4.907585	0.999999999999864	0.74766	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	9.052000	0.93306	9.294000	0.79816	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	16.019	0.80264	918	0.19598	.;.;Proteasome alpha-subunit, N-terminal domain|Proteasome alpha-subunit, N-terminal domain|Proteasome alpha-subunit, N-terminal 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	.	.	.	.	.	.	.	.	0.05	1473.43	37	chr18	26133996	.	G	C	1473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.424;DP=452;ExcessHet=0;FS=3.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.236;SOR=0.967	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1485,0,1888	9	0	1	0
chr18	31140159	31140159	C	A	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon10:c.G1403T:p.G468V,DSC1:NM_024421:exon10:c.G1403T:p.G468V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0954329120144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000050	0.53742	D	0.000000	1	0.81001	D	3.55	0.93268	H	0.17	0.60485	T	-8.15	0.97055	D	0.848	0.85027	-0.0439	0.81335	T	0.458	0.78906	T	10	0.86742336	0.85992	D	0.095433	0.76427	D	0.386	0.70276	0.514	0.61307	0.912829283661	0.91195	0.8857443710965487	0.88543	0.431216112799	0.43339	0.456139117479	0.32783	T	0.433575	0.78096	T	0.182972	0.72316	D	0.0250499	0.71957	D	0.998927175998688	0.95599	D	0.977602	0.95568	D	0.96015245	0.97295	0.9365388	0.97538	0.96015245	0.97296	0.9365388	0.97539	-12.337	0.86454	D	.	.	0.775	0.80734	P	.;.	.;.	4.235375	0.64170	24.7	0.99798482676397537	0.88372	0.97300	0.73886	D	AEFI	0.508382	0.53829	D	0.779720946230751	0.84823	8.396275	0.724237118603478	0.84219	8.231477	0.991489546336187	0.32504	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	4.140000	0.57795	7.622000	0.62351	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.900000	0.43643	0.0:1.0:0.0:0.0	17.903	0.88829	710	0.56735	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	957.43	43	chr18	31140159	.	C	A	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.843;DP=476;ExcessHet=0;FS=7.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.626;SOR=1.074	GT:AD:DP:GQ:PL	0/1:69,45:114:99:969,0,1555	9	0	1	0
chr18	36625569	36625569	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon10:c.G1016A:p.R339Q,FHOD3:NM_001281740:exon10:c.G1016A:p.R339Q,FHOD3:NM_025135:exon10:c.G1016A:p.R339Q	.	415	1104	3	0	0	3	0.00135685	.	.	.	1691541	Cardiomyopathy,_familial_hypertrophic,_28	MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0119382311789	.	0.000399361	0.0002	0	8.717e-05	0	0	0	0	0.0022	0.0001746	27	154602	rs545624410	7.198e-05	8.961e-05	5.448e-05	8.999e-05	0.0010	6.026e-05	5.591e-05	0.0008	0.0008	0	8.233e-05	0	2.799e-05	0	0.0007	9.43e-06	7.128e-05	0.0010	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.014	0.53172	D	0.044	0.53426	D	0.954	0.67487	P	0.308	0.52336	B	0.000010	0.62929	D	0.109671	0.984104	0.25506	N	1.32	0.33002	L	1.73	0.26445	T	-1.77	0.42957	N	0.281	0.33030	-1.0263	0.21658	T	0.064	0.26349	T	10	0.015672743	0.00329	T	0.011938	0.30057	T	0.070	0.20419	0.191	0.10171	0.102598925029	0.09809	0.3083834091754695	0.30751	0.416021963706	0.42244	0.406161308289	0.25926	T	0.017944	0.14550	T	-0.318395	0.07029	T	-0.275681	0.47244	T	0.198446497321129	0.20330	T	0.956404	0.85587	D	0.12848788	0.30038	0.09239054	0.21771	0.12848788	0.30038	0.09239054	0.21771	-8.428	0.63971	D	.	.	0.104	0.21987	B	.;.;.	.;.;.	4.217236	0.63755	24.6	0.99940197949040677	0.99767	0.83711	0.42811	D	AEFDBI	0.257242	0.37600	N	0.393626176853714	0.61076	4.303986	0.469700684946105	0.65990	4.894347	0.999956844652046	0.48110	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.75	4.77	0.60425	4.212000	0.58311	8.562000	0.77571	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.778000	0.36829	0.1841:0.0:0.8159:0.0	5.590	0.16579	832	0.38914	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	.	.	.	.	.	.	.	.	0.05	1534.43	41	chr18	36625569	.	G	A	1534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=591;ExcessHet=0;FS=3.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.37;SOR=0.437	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1546,0,1400	9	0	1	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011339	0.000000	0.005865	0.006369	0.055556	0.008929	0.019868	0.031496	0.05	633.43	36	chr18	45837719	.	G	A	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.829;SOR=0.77	GT:AD:DP:GQ:PL	0/1:16,25:41:99:645,0,302	9	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	966.14	144	chr18	51177112	.	A	G	966.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.834;DP=781;ExcessHet=0.2348;FS=197.103;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.07;ReadPosRankSum=2.75;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,25:132:99:0|1:51177112_A_G:538,0,4230:51177112	8	0	2	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	542.14	138	chr18	51177115	.	C	T	542.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.501;DP=927;ExcessHet=0.2348;FS=171.228;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=2.28;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,25:133:99:0|1:51177112_A_G:535,0,4283:51177112	8	0	2	0
chr18	51177121	51177121	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210A:p.E404K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0122661931489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.021	0.58089	D	0.979	0.59044	D	0.501	0.47677	P	0.000001	0.62929	D	0.098325	0.999904	0.50806	D	2.325	0.66631	M	0.98	0.42122	T	-3.19	0.64593	D	0.32	0.36043	-0.9494	0.41075	T	0.141	0.46202	T	10	0.28042933	0.45618	T	0.012266	0.30692	T	0.170	0.43303	0.553	0.66995	0.510982393985	0.50737	.	.	1.71487367527	0.90482	0.764943540096	0.76666	T	0.369304	0.73404	T	0.0264276	0.55246	T	-0.199815	0.54664	T	0.925537884235382	0.58731	D	0.986501	0.95398	D	0.38318136	0.59546	0.3377756	0.59564	0.38318136	0.59546	0.3377756	0.59563	-13.877	0.92651	D	.	.	0.622	0.70077	P	.;.	.;.	5.385764	0.90245	31	0.99905138994392295	0.97576	0.94671	0.61932	D	AEFBI	0.339062	0.43633	N	0.581503911233906	0.72020	5.740569	0.646825649859684	0.78374	6.863556	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	493.43	37	chr18	51177121	.	C	T	493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.365;DP=503;ExcessHet=0;FS=75.161;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.74;ReadPosRankSum=0.88;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,25:132:99:0|1:51177112_A_G:505,0,4136:51177112	9	0	1	0
chr18	62895898	62895898	A	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2331C:p.E777D	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00921952939623	0.0049	0.00119808	0.0041	0.0012	0.0023	0	0.0006	0.0067	0.0011	0.0003	0.0041332	639	154602	rs112206318	0.0046	0.0046	0.0047	0.0045	0.0050	0.0045	0.0045	0.0049	0.0048	0.0008	0.0027	0.0250	0	0.0009	0.0049	0.0050	0.0051	0.0002	0.0038	0.0038	0.0040	0.0036	0.0053	0.0035	0.0034	0.0048	0.0046	0.0008	0.0230	0.0037	0.0222	0	0.0011	0.0102	0.0053	0.0076	0	0.227	0.18498	T	0.4	0.15010	T	0.304	0.32663	B	0.096	0.30313	B	.	.	.	.	0.940525	0.26805	N	0.58	0.15352	N	1.79	0.25509	T	-0.82	0.22508	N	0.179	0.19325	-1.0005	0.29774	T	0.023	0.09878	T	9	0.006659955	0.00151	T	0.00922	0.24225	T	0.010	0.01040	0.39	0.41279	0.110392049598	0.10638	0.2569646249391286	0.25610	0.304468408288	0.32754	0.316565811634	0.12901	T	0.108052	0.42077	T	-0.583012	0.00185	T	-0.605105	0.12385	T	0.0065710510570949	0.00073	T	0.720728	0.33361	T	0.08035627	0.18408	0.07458776	0.16333	0.08035627	0.18408	0.07458776	0.16332	-5.035	0.37218	T	.	.	0.104	0.18910	B	.	.	1.631356	0.20829	14.93	0.98761874788161219	0.45831	0.81546	0.40928	D	AEFGBI	0.305918	0.41321	N	-0.583447532344961	0.19448	1.017905	-0.445745247042492	0.23669	1.292022	0.958021093377469	0.28338	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.07	2.32	0.27895	0.556000	0.23144	2.497000	0.33011	-0.137000	0.12594	0.996000	0.39380	1.000000	0.68203	0.832000	0.39227	0.4039:0.0:0.5961:0.0	8.026	0.29601	986	0.02773	.	.	.	.	.	.	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	0.004028	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1670.43	35	chr18	62895898	.	A	C	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.783;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.133;SOR=0.668	GT:AD:DP:GQ:PL	0/1:78,79:157:99:1682,0,1829	9	0	1	0
chr18	63655736	63655736	C	A	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.G1094T:p.C365F	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0680666691362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769288329	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.059787	0.22297	N	0.324668	0.985473	0.24707	N	1.115	0.28702	L	-1.43	0.80730	T	-9.14	0.98205	D	0.16	0.19325	-0.5200	0.67914	T	0.483	0.80260	T	10	0.7667825	0.76766	D	0.068067	0.70345	D	0.341	0.66297	0.761	0.88972	0.841184084333	0.83966	0.602305111425158	0.60161	0.225417381781	0.25083	0.343318462372	0.16933	T	0.384897	0.74642	T	-0.0919597	0.37752	T	-0.200742	0.54576	T	0.966641306877136	0.67650	D	0.866213	0.79487	D	0.8796616	0.89639	0.80530673	0.88603	0.8796616	0.89640	0.80530673	0.88603	-9.743	0.72359	D	.	.	0.809	0.77698	P	.;.	.;.	2.959829	0.39413	21.0	0.98471048900146796	0.41861	0.31278	0.24297	N	AEFGHCI	0.158365	0.28401	N	-0.0988808927893998	0.37440	2.178344	-0.283346498354853	0.28647	1.598854	0.0102414048378568	0.11992	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.05	0.25860	1.227000	0.32179	-20.000000	0.00162	0.410000	0.20643	0.260000	0.24949	0.000000	0.08366	0.960000	0.51673	0.3358:0.3501:0.3141:0.0	5.904	0.18227	966	0.07191	Serpin domain|Serpin, conserved site|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1282.43	61	chr18	63655736	.	C	A	1282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.705;DP=538;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.395;SOR=0.546	GT:AD:DP:GQ:PL	0/1:78,52:130:99:1294,0,2111	9	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,21:74:99:0|1:65824683_C_G:152,0,1028:65824683	1	0	8	1
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F,RTTN:NM_173630:exon45:c.G6038T:p.C2013F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	9	1472	39	2	0	43	0.0143957	.	.	.	135637	RTTN-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.013587	0.032164	0.000000	0.000000	0.000000	0.011364	0.05	991.43	34	chr18	70020730	.	C	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.999;DP=413;ExcessHet=0;FS=1.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.533;SOR=0.993	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1003,0,1014	9	0	1	0
chr18	78993258	78993258	C	G	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C1267G:p.R423G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0326279586177	.	.	9.383e-06	0	0	0	0	0	0	6.562e-05	6.5e-06	1	154602	rs758753258	4.115e-06	4.104e-06	2.729e-06	5.514e-06	3.484e-05	1.48e-06	9.7e-07	9.25e-06	4.57e-06	0	0	0	0	0	0	1.799e-06	1.658e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.924	0.65913	D	0.000030	0.55875	D	0.000000	0.999995	0.58761	D	1.765	0.45800	L	3.17	0.07599	T	-5.75	0.87760	D	0.839	0.87373	-1.1248	0.02048	T	0.064	0.26349	T	10	0.6858777	0.71558	D	0.032628	0.54402	D	0.278	0.59497	0.366	0.37361	0.422762650823	0.41893	0.6795173186319645	0.67890	1.38368132577	0.84841	0.8781042099	0.93704	D	0.086181	0.81713	T	0.0804279	0.62090	D	-0.0216174	0.68921	D	0.946431219577789	0.62469	D	0.934107	0.75346	D	0.7670328	0.81870	0.66878235	0.80571	0.7670328	0.81871	0.66878235	0.80572	-12.633	0.87954	D	.	.	0.994	0.95244	P	.;.;.;.	.;.;.;.	3.156180	0.42741	21.6	0.92059331908066278	0.21404	0.62580	0.31824	D	AEFDBCI	0.391552	0.46995	N	0.296892808557188	0.55991	3.763288	0.206034559655425	0.50182	3.212956	0.985007809249711	0.30811	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.54	2.1	0.26226	0.758000	0.26113	1.703000	0.28145	-0.322000	0.05848	0.995000	0.38783	0.997000	0.33255	0.974000	0.55675	0.5206:0.4794:0.0:0.0	12.510	0.55347	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1739.43	44	chr18	78993258	.	C	G	1739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.15;DP=536;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.69;SOR=0.516	GT:AD:DP:GQ:PL	0/1:52,76:128:99:1751,0,1225	9	0	1	0
chr19	2934622	2934622	G	T	exonic	ZNF77	.	nonsynonymous SNV	ZNF77:NM_021217:exon4:c.C505A:p.Q169K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00381560902365	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	6.5e-06	1	154602	rs773146315	4.036e-05	4.173e-05	3.539e-05	4.538e-05	5.126e-05	3.179e-05	2.91e-05	4.005e-05	3.658e-05	0	0	0	0	0	0	5.126e-05	3.312e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	6.555e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.555e-05	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.07	0.01043	N	5.2	0.01165	T	0.94	0.01529	N	0.063	0.03502	-0.9197	0.45594	T	0.001	0.00348	T	9	0.03154379	0.01291	T	0.003816	0.08899	T	0.051	0.14325	0.419	0.46036	0.143124449307	0.13826	0.029400167064681695	0.02889	0.0733574000126	0.08227	0.196183815598	0.00354	T	0.028399	0.20579	T	-0.343133	0.05174	T	-0.730663	0.04298	T	0.0201581377414037	0.00716	T	0.708429	0.31914	T	0.02448798	0.01285	0.040775493	0.04483	0.02448798	0.01285	0.040775493	0.04482	-0.174	0.00417	T	.	.	0.067	0.02518	B	.	.	-1.520908	0.00282	0.005	0.25819487483597159	0.01208	0.00002	0.00064	N	AEFBCI	0.031722	0.03446	N	-1.55604749293839	0.01500	0.06547266	-1.52390752913598	0.02161	0.09897872	3.39794087705124E-5	0.03775	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.93	-3.38	0.04577	0.279000	0.18532	-10.707000	0.00674	-0.171000	0.11205	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.0:0.3298:0.2361:0.4342	5.729	0.17297	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1955.43	36	chr19	2934622	.	G	T	1955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.873;DP=519;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.971;SOR=0.565	GT:AD:DP:GQ:PL	0/1:71,80:151:99:1967,0,1799	9	0	1	0
chr19	4511597	4511597	G	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C2363G:p.T788S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00419329	0.0014	0.0166	0.0007	0	0	6.053e-05	0	0.0002	0.0012936	200	154602	rs115045260	0.0004	0.0004	0.0004	0.0004	0.0138	0.0004	0.0004	0.0127	0.0123	0.0138	0.0007	4.439e-05	0	0	0.0015	3.536e-05	0.0009	4.157e-05	0.0035	0.0037	0.0036	0.0034	0.0122	0.0033	0.0032	0.0113	0.0109	0.0122	0	0.0012	0	0	0	0	9.147e-05	0.0015	0	0.322	0.13479	T	0.747	0.05128	T	0.112	0.26290	B	0.05	0.25278	B	0.521625	0.05205	N	1.362730	1	0.08975	N	1.795	0.47270	L	3.45	0.05311	T	-1.5	0.36586	N	0.105	0.08925	-0.9391	0.42759	T	0.009	0.03183	T	10	0.004151106	0.00082	T	.	.	.	0.061	0.17616	0.363	0.36874	0.0401082797425	0.02173	0.023888255436604725	0.02339	.	.	0.26491600275	0.05490	T	0.012856	0.11224	T	-0.683044	0.00046	T	-0.742245	0.03796	T	0.0163744631013981	0.00405	T	0.460054	0.13307	T	0.06763664	0.14664	0.05834863	0.10766	0.06763664	0.14664	0.05834863	0.10765	-4.679	0.33149	T	.	.	0.103	0.18331	B	.;.	.;.	0.177782	0.05660	2.107	0.80674651622318982	0.13315	0.09388	0.15154	N	AEFDBCI	0.095467	0.19287	N	-1.17546817825882	0.05372	0.244761	-1.25279074790973	0.05090	0.2416957	1.88150629742845E-4	0.05844	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.63	-2.52	0.05978	-0.117000	0.10681	-5.224000	0.01800	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5845:0.4155:0.0	17.563	0.87809	946	0.12043	.;.	.	.	.	.	.	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	0.004541	0.000000	0.012228	0.000000	0.000000	0.000000	0.000000	0.000000	0.0625	4213.78	261	chr19	4511597	.	G	C	4213.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.63;DP=4707;ExcessHet=0;FS=13.821;InbreedingCoeff=0.3464;MLEAC=1;MLEAF=0.063;MQ=58.87;MQRankSum=-1.846;QD=10.69;ReadPosRankSum=-3.2;SOR=0.659	GT:AD:DP:GQ:PL	0/1:225,169:394:99:4224,0,8379	7	0	1	2
chr19	4512102	4512102	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1858G:p.M620V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0041	0.00379393	0.0013	0.0144	0.0004	0	0	5.994e-05	0	0.0003	0.0012225	189	154602	rs141457177	0.0004	0.0005	0.0004	0.0004	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0007	4.339e-05	2.781e-05	9.697e-05	0.0035	2.235e-05	0.0008	5.846e-05	0.0049	0.0073	0.0052	0.0045	0.0181	0.0045	0.0044	0.0168	0.0163	0.0181	0.0015	0.0016	0	0.0003	0.0003	0	0.0002	0.0025	0	0.463	0.08660	T	0.716	0.05470	T	0.0	0.02946	B	0.0	0.01387	B	0.330847	0.04130	N	1.625020	1	0.08975	N	-0.855	0.01474	N	3.53	0.04852	T	-0.32	0.12283	N	0.066	0.03841	-1.0155	0.25175	T	0.003	0.01092	T	10	0.003845334	0.00073	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.020647614293595646	0.02017	.	.	0.22078743577	0.01356	T	0.010783	0.09704	T	-0.783231	0.00010	T	-0.88551	0.00610	T	0.00789288766643281	0.00093	T	0.235876	0.03275	T	0.039515752	0.05469	0.045844138	0.06260	0.039515752	0.05469	0.045844138	0.06260	-0.628	0.00668	T	.	.	0.065	0.01834	B	.;.	.;.	-3.648458	0.00002	0.001	0.18429946470286698	0.00579	0.01614	0.05222	N	AEFDGBCI	0.052167	0.09284	N	-2.74775631786101	0.00004	0.0001804259	-2.77716432186007	0.00005	0.000230338	0.99999999981674	0.74766	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	5.2	-10.4	0.00257	-6.493000	0.00079	-20.000000	0.00162	-7.328000	0.00001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0519:0.3388:0.0931:0.5161	9.558	0.38516	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.016304	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4623.43	189	chr19	4512102	.	T	C	4623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=3137;ExcessHet=0;FS=2.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.031;SOR=0.634	GT:AD:DP:GQ:PL	0/1:161,194:357:99:4635,0,3825	9	0	1	0
chr19	4513136	4513136	A	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.T824C:p.V275A	.	438	1083	1	0	0	1	0.000461467	.	.	.	2815230	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0072	0.00559105	0.0007	0.0080	0.0003	0	0	3.025e-05	0	0	0.000705	109	154602	rs375161179	0.0001	0.0001	0.0001	0.0001	0.0040	9.417e-05	8.878e-05	0.0034	0.0032	0.0040	0.0002	0	0	0	0.0005	2.822e-06	0.0003	1.176e-05	0.0004	0.0008	0.0005	0.0004	0.0016	0.0003	0.0003	0.0012	0.0011	0.0016	0	0.0001	0	0	0	0	0	0.0015	0	0.228	0.18434	T	0.684	0.06052	T	0.82	0.45712	P	0.278	0.40236	B	0.754080	0.06501	N	1.166430	1	0.08975	N	1.665	0.42610	L	2.79	0.11189	T	-1.58	0.38151	N	0.104	0.13911	-1.0148	0.25400	T	0.012	0.04416	T	10	0.006348133	0.00143	T	.	.	.	0.069	0.20116	.	.	0.0920862733494	0.08535	0.04972337709942519	0.04915	.	.	0.283740699291	0.08019	T	0.013821	0.11884	T	-0.561135	0.00250	T	-0.727652	0.04434	T	0.0150459888924285	0.00324	T	0.623338	0.24205	T	0.059853837	0.12212	0.053697396	0.09093	0.059853837	0.12212	0.053697396	0.09093	-9.467	0.70654	D	.	.	0.369	0.57763	A	.;.	.;.	1.424040	0.18411	13.72	0.80160125837235374	0.13072	0.03722	0.09012	N	AEFBI	0.079928	0.16152	N	-0.553767843390093	0.20366	1.07306	-0.667787043759565	0.17768	0.9462669	3.2763381772053E-4	0.06540	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.31	3.26	0.36471	1.392000	0.34095	2.437000	0.32756	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.012000	0.09680	0.7159:0.0:0.1035:0.1806	4.035	0.09211	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.019022	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2436.43	101	chr19	4513136	.	A	G	2436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.409;DP=1006;ExcessHet=0;FS=8.372;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.12;MQRankSum=0.697;QD=12.89;ReadPosRankSum=1.59;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,97:189:99:0|1:4513131_C_T:2448,0,2424:4513131	9	0	1	0
chr19	4543875	4543875	C	T	exonic	SEMA6B	.	nonsynonymous SNV	SEMA6B:NM_032108:exon17:c.G2393A:p.R798Q	.	.	.	.	.	.	.	.	.	.	.	3602075	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.775707512224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045115813	4.74e-06	6.156e-06	3.59e-06	6.026e-06	5.531e-06	1.39e-06	1.01e-06	1.62e-06	1.18e-06	0	0	0	0	0	0	5.531e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.39645	T	0.136	0.27347	B	0.007	0.12992	B	.	.	.	.	0.554746	0.81001	D	1.975	0.53506	M	1.25	0.36512	T	.	.	.	0.078	0.05287	-1.0336	0.19300	T	0.051	0.21728	T	9	0.14718261	0.27892	T	0.775708	0.98230	D	.	.	0.165	0.06955	0.043077524339	0.03247	0.6054171861904176	0.60472	3.36241963825	0.99660	0.921305179596	0.98421	D	0.137741	0.47085	T	-0.213665	0.18866	T	-0.544691	0.17838	T	0.669272257912238	0.39305	D	0.854315	0.54093	D	0.15709089	0.35416	0.11536778	0.27850	0.15709089	0.35415	0.11536778	0.27850	-5.118	0.38096	T	.	.	0.656	0.71172	P	.	.	4.725738	0.76062	26.4	0.99832094386507808	0.91370	0.15332	0.18859	N	AEFDBI	0.113011	0.22315	N	-0.701043828237677	0.15992	0.8109042	-0.628256982109547	0.18769	1.004078	0.990089359331425	0.32033	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	2.96	1.9	0.24770	1.289000	0.32913	5.345000	0.48357	0.437000	0.21030	0.818000	0.29961	1.000000	0.68203	0.977000	0.56843	0.0:0.8443:0.0:0.1557	6.177	0.19662	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	90.75	12	chr19	4543875	.	C	T	90.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.836;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=-0.0774;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.92;SOR=1.27	GT:AD:DP:GQ:PL	0/1:7,4:11:99:102,0,181	9	0	1	0
chr19	5719808	5719808	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_004793:exon1:c.A325G:p.I109V,LONP1:NM_001276479:exon2:c.A133G:p.I45V	CODAS syndrome, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	1323969	Inborn_genetic_diseases|CODAS_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010879,MedGen:C1838180,OMIM:600373,Orphanet:1458|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.00674745930397	0.0002	.	6.923e-05	0.0008	0	0	0	0	0	0	5.17e-05	8	154602	rs141593936	3.151e-05	3.147e-05	4.226e-05	2.066e-05	0.0008	2.415e-05	2.16e-05	0.0006	0.0005	0.0008	2.237e-05	0	0	0	0.0002	1.799e-06	0.0002	2.32e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.167e-05	6.723e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	1.0	0.00964	T	0.658	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.209720	1	0.81001	D	0.205	0.09354	N	2.32	0.41058	T	0.06	0.06253	N	0.186	0.30461	-1.0084	0.27416	T	0.018	0.07659	T	10	0.035190195	0.01757	T	0.006747	0.17840	T	0.035	0.08770	.	.	0.110392049598	0.10638	0.15961095781042536	0.15882	0.276049919379	0.30084	0.632070183754	0.57438	T	0.108395	0.42140	T	-0.501411	0.00561	T	-0.583375	0.14244	T	0.00494339379154037	0.00053	T	0.717928	0.34274	T	0.020991785	0.00680	0.024274334	0.00444	0.020991785	0.00680	0.024274334	0.00444	-2.212	0.04098	T	.	.	0.093	0.39949	B	.;.;.	.;.;.	2.062254	0.26218	17.04	0.80160262214641909	0.13072	0.70233	0.34506	D	AEFDBHCI	0.307894	0.41464	N	-0.44271295239507	0.23987	1.292089	-0.259387456146259	0.29449	1.649996	0.999999972463417	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.57	3.55	0.39770	3.150000	0.50359	0.559000	0.19493	0.651000	0.53179	1.000000	0.71638	0.790000	0.26855	0.501000	0.29039	0.0:0.2215:0.0:0.7785	5.489	0.16057	867	0.32089	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1160.43	34	chr19	5719808	.	T	C	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.752;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.59;SOR=0.65	GT:AD:DP:GQ:PL	0/1:32,52:84:99:1172,0,729	9	0	1	0
chr19	5893087	5893087	A	T	exonic	NDUFA11	.	nonsynonymous SNV	NDUFA11:NM_001193375:exon4:c.T517A:p.C173S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	1306554	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.00101429060957	.	0.000798722	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs563761118	8.383e-05	7.935e-05	7.989e-05	8.787e-05	0.0016	7.113e-05	6.62e-05	0.0012	0.0011	0.0016	0.0007	0	0	0	0.0002	1.668e-05	0.0003	1.262e-05	0.0005	0.0005	0.0006	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0007	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.368	0.16570	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.53	0.02808	N	0.162	0.17002	-1.0458	0.15592	T	0.035	0.15291	T	8	0.008442968	0.00191	T	0.001014	0.01096	T	0.124	0.34239	0.288	0.24761	0.043077524339	0.03247	0.04455966607775297	0.04399	0.247142046853	0.27250	0.295294761658	0.09701	T	.	.	.	-0.650238	0.00072	T	-0.720029	0.04794	T	0.00857984934102058	0.00105	T	0.217178	0.02724	T	.	.	.	.	.	.	.	.	-2.267	0.04378	T	.	.	0.148	0.32589	B	.	.	0.157884	0.05491	1.955	0.48001654758283091	0.03970	0.00859	0.03418	N	AEFBCI	0.053762	0.09715	N	-1.63976978240089	0.01079	0.04682274	-1.748097748773	0.00940	0.0420967	0.992371969443156	0.32817	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	0.788	-1.58	0.08029	-0.711000	0.05121	-0.524000	0.08673	-1.017000	0.01747	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2401:0.3158:0.2259:0.2182	0.343	0.00314	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001250	0.010638	0.007143	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1419.43	42	chr19	5893087	.	A	T	1419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=476;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.383;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1431,0,1161	9	0	1	0
chr19	6010199	6010199	C	T	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon8:c.G877A:p.G293S,RFX2:NM_000635:exon9:c.G952A:p.G318S	.	422	1099	1	0	0	1	0.000454752	.	.	.	3312728	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.221	0.0119354853871	0.0004	.	0.0003	0.0019	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs144879552	5.729e-05	5.814e-05	7.49e-05	3.92e-05	0.0017	4.687e-05	4.342e-05	0.0014	0.0012	0.0017	2.801e-05	7.943e-05	0	0	0	9.268e-06	0.0002	1.263e-05	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0012	0.0010	0.0014	0	0.0001	0	0	0	0	0	0	0	0.462	0.08685	T	0.544	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.046674	0.23417	N	0.537533	0.999969	0.18878	N	-1.03	0.01126	N	-0.01	0.81900	T	0.34	0.03824	N	0.076	0.12055	-1.0150	0.25336	T	0.064	0.26385	T	10	0.00796327	0.00181	T	0.011935	0.30037	T	0.221	0.51721	.	.	0.359705090764	0.35578	0.16441498318295042	0.16361	0.800589739096	0.66227	0.317093849182	0.12980	T	0.009161	0.11008	T	-0.357342	0.04282	T	-0.305088	0.44185	T	0.00407829643301156	0.00043	T	0.756924	0.40417	T	0.023906138	0.01171	0.04029353	0.04322	0.023906138	0.01170	0.04029353	0.04322	-5.463	0.41521	T	.	.	0.052	0.00341	B	.;.;.;.;.	.;.;.;.;.	0.404707	0.07760	4.442	0.70347752552470744	0.09266	0.14212	0.18283	N	AEFDBI	0.077005	0.15505	N	-1.33498323872629	0.03283	0.1463923	-1.11230053714194	0.07464	0.3631874	0.90182914900868	0.26111	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.37	2.14	0.26518	1.004000	0.29423	-0.031000	0.12795	-1.853000	0.00569	1.000000	0.71638	0.310000	0.24267	0.030000	0.13115	0.0:0.2196:0.0:0.7804	8.848	0.34340	916	0.20744	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1625.43	40	chr19	6010199	.	C	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.332;SOR=0.703	GT:AD:DP:GQ:PL	0/1:39,66:105:99:1637,0,874	9	0	1	0
chr19	6387534	6387534	C	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon5:c.G352A:p.V118I	.	392	1129	1	0	0	1	0.000442674	.	.	.	2353394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.012296018018	0.0004	.	9.924e-05	0.0010	0	0	0	3.009e-05	0	0	7.76e-05	12	154602	rs141810642	2.6e-05	2.599e-05	3.267e-05	1.925e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0.0004	2.236e-05	0	5.038e-05	0	0	6.295e-06	0.0002	2.319e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0002	0	0	0	0	0	0	0	0.273	0.15876	T	0.863	0.18846	T	0.014	0.16867	B	0.032	0.22131	B	0.000006	0.62929	D	0.062581	0.999999	0.81001	D	1.725	0.44537	L	0.79	0.49068	T	-0.44	0.14588	N	0.723	0.72477	-1.0669	0.10108	T	0.089	0.34271	T	10	0.07309526	0.10999	T	0.012296	0.30749	T	0.097	0.27909	.	.	0.536240654335	0.53275	0.38996809884782435	0.38911	0.278449452073	0.30327	0.546894550323	0.45419	T	0.093098	0.39141	T	-0.342174	0.05238	T	-0.333108	0.41123	T	0.0845597453266989	0.10560	T	0.909109	0.72722	D	0.17477754	0.38300	0.14067537	0.33524	0.17477754	0.38300	0.14067537	0.33524	-5.469	0.41578	T	.	.	0.099	0.30608	B	.;.;.	.;.;.	2.204875	0.28123	17.69	0.99307926160598337	0.58869	0.91771	0.54228	D	AEFDBCI	0.699106	0.65656	D	-0.140730689553509	0.35630	2.049036	0.0485047652101648	0.41999	2.532814	0.999933881785268	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.36	0.51643	7.501000	0.80435	5.883000	0.50667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.921:0.0:0.079	13.135	0.58823	766	0.49742	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1539.43	35	chr19	6387534	.	C	T	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.256;DP=448;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.16;SOR=0.636	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1551,0,1372	9	0	1	0
chr19	7689215	7689215	G	A	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon10:c.C941T:p.P314L,FCER2:NM_001220500:exon11:c.C944T:p.P315L,FCER2:NM_002002:exon11:c.C944T:p.P315L	.	385	1136	1	0	0	1	0.000439947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0101	0.0101837	0.0032	0.0365	0.0013	0	0	0.0002	0	0	0.0030142	466	154602	rs34694289	0.0010	0.0010	0.0011	0.0008	0.0315	0.0009	0.0009	0.0299	0.0293	0.0315	0.0017	0	0	0.0003	0.0011	0.0001	0.0020	5.802e-05	0.0093	0.0094	0.0095	0.0091	0.0324	0.0089	0.0088	0.0310	0.0304	0.0324	0	0.0025	0	0	0	0.0102	0.0001	0.0104	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.71	0.04114	T	-0.64	0.18670	N	0.044	0.01658	-0.9321	0.43829	T	0.003	0.00864	T	9	0.0031080246	0.00052	T	.	.	.	0.015	0.02232	.	.	0.294918367191	0.29099	0.3984717539420206	0.39762	0.0753772190041	0.08448	0.33345502615	0.15455	T	0.019513	0.15531	T	-0.72204	0.00027	T	-0.783477	0.02350	T	0.00665360539833033	0.00075	T	0.593441	0.21910	T	0.07669258	0.17361	0.0744209	0.16278	0.07669258	0.17361	0.0744209	0.16278	-4.348	0.28844	T	.	.	0.087	0.11076	B	.;.;.	.;.;.	0.803929	0.11744	8.323	0.95204584216940502	0.26403	0.02252	0.06522	N	AEFDBCI	0.043745	0.06953	N	-1.13192165711044	0.06082	0.2790529	-1.17794849200178	0.06280	0.3017636	0.938286168991519	0.27336	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	2.72	-0.925	0.09926	-0.171000	0.09872	1.869000	0.29374	-0.171000	0.11205	0.000000	0.06391	0.062000	0.22056	0.003000	0.05239	0.1588:0.4449:0.3963:0.0	4.264	0.10203	793	0.45818	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	744.43	34	chr19	7689215	.	G	A	744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.123;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,34:59:99:756,0,590	9	0	1	0
chr19	8096554	8096554	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon44:c.G5429A:p.R1810Q,FBN3:NM_032447:exon44:c.G5429A:p.R1810Q	.	.	.	.	.	.	.	.	.	.	.	742227	not_provided|FBN3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.362	0.0329796350637	0.0024	0.000998403	0.0006	0.0066	0	0	0	9.048e-05	0	0	0.0005369	83	154602	rs145090095	0.0003	0.0003	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0051	0.0060	0.0005	0	0.0001	0	0.0003	0.0001	0.0005	8.126e-05	0.0017	0.0017	0.0018	0.0017	0.0059	0.0016	0.0015	0.0053	0.0051	0.0059	0	0.0005	0	0.0004	0	0	0.0001	0	0	0.348	0.12386	T	0.91	0.02961	T	0.716	0.42206	P	0.089	0.29769	B	0.000018	0.62929	U	0.070016	0.996404	0.23025	N	-0.23	0.03940	N	-2.98	0.92057	D	0.45	0.03191	N	0.064	0.03841	-0.3880	0.72404	T	0.244	0.61308	T	10	0.008636445	0.00196	T	0.03298	0.54655	D	0.362	0.68230	.	.	0.313518423057	0.30959	0.2967384571808825	0.29586	0.223144157896	0.24838	0.243772476912	0.03140	T	0.041329	0.25821	T	-0.377622	0.03225	T	-0.31287	0.43351	T	0.0256642780895959	0.01361	T	0.582942	0.21167	T	0.030904753	0.02834	0.048950773	0.07378	0.030904753	0.02834	0.048950773	0.07378	-2.947	0.09621	T	.	.	0.060	0.00890	B	.;.;.	.;.;.	0.292891	0.06690	3.195	0.64013242098421097	0.07378	0.07333	0.13354	N	AEFBCI	0.059081	0.11133	N	-1.24329081102799	0.04389	0.1979648	-1.25750399727652	0.05020	0.2382538	0.00808213200123637	0.11607	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.503917	0.08554	0	.	.	3.63	-4.65	0.03100	-0.064000	0.11593	.	.	-0.780000	0.03343	0.150000	0.23655	0.000000	0.08366	0.667000	0.33166	0.0:0.1441:0.0:0.8559	12.211	0.53690	778	0.48011	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	824.43	35	chr19	8096554	.	C	T	824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.109;SOR=0.713	GT:AD:DP:GQ:PL	0/1:36,30:66:99:836,0,865	9	0	1	0
chr19	8843036	8843036	C	T	exonic	MBD3L1	.	nonsynonymous SNV	MBD3L1:NM_145208:exon1:c.C358T:p.P120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00622639104455	0.0018	0.00239617	0.0005	0.0056	0.0003	0	0	0	0	0	0.0004722	73	154602	rs140645228	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0003	0	0	0	0.0002	4.497e-06	0.0004	0	0.0018	0.0018	0.0018	0.0017	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0008	0	0	0	0	0	0.0019	0	0.029	0.45756	D	0.134	0.34241	T	0.35	0.33644	B	0.093	0.30104	B	0.387251	0.13306	N	0.565138	0.999996	0.08975	N	2.065	0.56745	M	0.87	0.46412	T	-6.17	0.90254	D	0.133	0.12913	-1.0621	0.11239	T	0.034	0.14726	T	10	0.007997811	0.00181	T	0.006226	0.16317	T	0.041	0.10877	.	.	0.327419511103	0.32360	0.36601532611475907	0.36515	0.128282148798	0.14463	0.250603288412	0.03832	T	0.511468	0.82737	D	-0.588299	0.00172	T	-0.615215	0.11565	T	0.0208333475691835	0.00783	T	0.294271	0.05429	T	0.14613718	0.33468	0.13781574	0.32931	0.14613718	0.33467	0.13781574	0.32930	-3.176	0.12190	T	.	.	0.088	0.11701	B	.;.	.;.	0.021249	0.04431	1.162	0.84848652854533779	0.15534	0.01674	0.05351	N	AEFDBI	0.035062	0.04449	N	-0.895901446049186	0.10939	0.5253167	-0.977839028693149	0.10284	0.5169462	1.66276414737991E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.71	0.177	0.14338	0.335000	0.19546	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2027:0.5701:0.0:0.2272	3.323	0.06643	958	0.09170	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1798.43	35	chr19	8843036	.	C	T	1798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.771;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.472;SOR=0.651	GT:AD:DP:GQ:PL	0/1:59,73:132:99:1810,0,1493	9	0	1	0
chr19	8871528	8871528	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.C42071G:p.T14024S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0355230483822	0.0006	0.00179712	0.0003	0.0033	8.715e-05	0	0	0	0	0	0.0002911	45	154602	rs147970211	8.203e-05	8.687e-05	8.777e-05	7.623e-05	0.0030	6.988e-05	6.536e-05	0.0025	0.0024	0.0030	0.0001	0	0	0	0	0	0.0002	0	0.0009	0.0009	0.0010	0.0008	0.0031	0.0008	0.0007	0.0026	0.0025	0.0031	0	0.0005	0	0	0	0	0	0.0009	0	0.083	0.33091	T	0.113	0.36901	T	.	.	.	.	.	.	0.003002	0.35573	N	0.000000	0.999982	0.18198	N	.	.	.	1.18	0.37746	T	-2.47	0.53898	N	0.117	0.10626	-0.8404	0.52620	T	0.116	0.40919	T	9	0.007791728	0.00177	T	0.035523	0.56403	D	0.151	0.39764	.	.	0.295974979623	0.29207	0.382904205406767	0.38205	.	.	0.51866465807	0.41438	T	.	.	.	-0.476434	0.00776	T	-0.459877	0.26613	T	0.117810374017442	0.14214	T	0.506949	0.16072	T	.	.	.	.	.	.	.	.	-7.802	0.59713	D	.	.	0.198	0.42067	B	.	.	2.462671	0.31732	18.83	0.99239332510921197	0.56501	0.83743	0.42841	D	AEFDBI	0.258740	0.37722	N	0.174495721338541	0.49977	3.192296	0.0871415409408761	0.43900	2.682314	7.05646693136259E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	2.85	0.32333	4.541000	0.60381	.	.	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.1158:0.0:0.8842:0.0	7.686	0.27706	958	0.09170	SEA domain|SEA 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	.	.	.	.	.	.	.	.	0.05	541.43	37	chr19	8871528	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=386;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.657;SOR=0.775	GT:AD:DP:GQ:PL	0/1:36,24:60:99:553,0,823	9	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	1805.06	363	chr19	8888745	.	G	A	1805.06	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.46;DP=4623;ExcessHet=0.7463;FS=1.775;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.125;MQ=56.82;MQRankSum=-12.22;QD=1.23;ReadPosRankSum=-3.94;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:399,34:464:99:.:.:172,0,16966:.	6	0	2	2
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	185.37	363	chr19	8888746	.	T	G	185.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.19;DP=4612;ExcessHet=0.2348;FS=1.108;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=56.67;MQRankSum=-9.603;QD=0.2;ReadPosRankSum=-4.817;SOR=0.975	GT:AD:DP:GQ:PL	0/1:434,34:468:99:121,0,18030	7	0	2	1
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,66:368:99:0|1:8888826_T_*:2012,0,10504:8888826	2	0	8	0
chr19	8896826	8896826	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon43:c.G39466A:p.V13156I	.	428	1093	1	0	0	1	0.000457247	.	.	.	3206720	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0084	0.00778754	0.0022	0.0223	0.0015	0.0005	0.0003	0.0003	0	0.0004	0.0022121	342	154602	rs142323715	0.0010	0.0010	0.0011	0.0009	0.0269	0.0009	0.0009	0.0254	0.0249	0.0269	0.0020	0.0009	0.0001	5.62e-05	0.0019	0.0002	0.0024	0.0003	0.0073	0.0073	0.0075	0.0072	0.0248	0.0070	0.0068	0.0235	0.0230	0.0248	0	0.0034	0.0020	0.0006	0	0.0034	0.0002	0.0058	0	0.459	0.08762	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.05	0.06369	N	0.052	0.02366	-0.9089	0.46989	T	0.002	0.00615	T	8	0.0045438707	0.00094	T	.	.	.	0.020	0.03691	.	.	0.0666544352282	0.05500	0.07506791943052477	0.07442	.	.	0.214643150568	0.01024	T	.	.	.	-0.446748	0.01180	T	-0.879499	0.00658	T	0.00319338679289188	0.00034	T	0.108189	0.00808	T	.	.	.	.	.	.	.	.	-4.217	0.26997	T	.	.	0.072	0.04436	B	.	.	-1.371850	0.00381	0.007	0.13827388158368059	0.00285	0.00148	0.00897	N	AEFBI	0.015171	0.00277	N	-2.07616999955008	0.00144	0.006180012	-2.20809762126666	0.00107	0.00471975	0.109941546180556	0.16620	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.1	-2.19	0.06621	-2.122000	0.01408	.	.	-4.626000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2394:0.3543:0.2117:0.1946	0.651	0.00774	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.005051	0.009511	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1695.43	34	chr19	8896826	.	C	T	1695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.319;DP=429;ExcessHet=0;FS=1.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=2.54;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,74:114:99:1707,0,732	9	0	1	0
chr19	8897503	8897503	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon41:c.G39373A:p.V13125I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00265140438751	0.0005	0.000399361	0.0001	0.0007	0	0.0001	0	0.0001	0	0.0001	0.0001358	21	154602	rs200225844	9.989e-05	9.987e-05	9.666e-05	0.0001	0.0011	8.647e-05	8.135e-05	0.0008	0.0007	0.0011	0	0	5.038e-05	5.618e-05	0.0002	8.455e-05	9.941e-05	4.637e-05	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0	0.075	0.34444	T	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.72	0.26588	T	-0.13	0.08971	N	0.262	0.29659	-1.0356	0.18668	T	0.042	0.17869	T	8	0.026220798	0.00793	T	0.002651	0.05406	T	0.037	0.09474	.	.	0.136095386433	0.13204	0.08302162826342877	0.08237	.	.	0.281300902367	0.07674	T	.	.	.	-0.243732	0.14876	T	-0.58788	0.13850	T	0.0342445273724449	0.02679	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	-7.294	0.56153	T	.	.	0.096	0.15160	B	.	.	1.442241	0.18620	13.84	0.30759885406050658	0.01699	0.03235	0.08251	N	AEFBI	0.031229	0.03294	N	-0.689652024995524	0.16316	0.8301428	-0.848947398426104	0.13313	0.6899354	8.81344906046729E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.04	-0.194	0.12590	0.075000	0.14547	.	.	0.540000	0.25189	0.023000	0.19925	0.000000	0.08366	0.002000	0.04165	0.0:0.6271:0.0:0.3729	4.282	0.10284	946	0.12043	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1609.43	51	chr19	8897503	.	C	T	1609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=510;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.598;SOR=0.629	GT:AD:DP:GQ:PL	0/1:78,68:146:99:1621,0,1817	9	0	1	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	867.56	40	chr19	8900001	.	C	T	867.56	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.397;DP=1750;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2495;MLEAC=4;MLEAF=0.2;MQ=59.02;MQRankSum=-14.38;QD=0.95;ReadPosRankSum=1.8;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,17:192:99:0|1:8900000_C_T:187,0,7290:8900000	6	0	4	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,18:201:99:0|1:8900000_C_T:205,0,7630:8900000	3	0	7	0
chr19	8902149	8902149	A	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.T38619A:p.H12873Q	.	430	1008	83	1	0	85	0.0404569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0008685953051	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs763878122	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0078	0.0002	0.0004	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0014	0.0002	0	0.0005	0.0001	0	0.0003	0	0.0005	0.607	0.05517	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.6	0.28604	T	-0.29	0.11728	N	0.102	0.08506	-1.0289	0.20811	T	0.030	0.12804	T	8	0.037195653	0.02060	T	8.69E-4	0.00777	T	0.033	0.08068	0.342	0.33464	0.0611884634855	0.05136	0.14136123866378772	0.14059	.	.	0.244068399072	0.03168	T	.	.	.	-0.348709	0.04808	T	-0.738673	0.03947	T	0.0328181248851721	0.02442	T	0.019898	0.00108	T	.	.	.	.	.	.	.	.	-5.305	0.39993	T	.	.	0.118	0.24088	B	.	.	-1.387499	0.00369	0.007	0.27685392094022832	0.01386	0.00136	0.00836	N	AEFBI	0.019284	0.00656	N	-1.77835524694418	0.00600	0.02586545	-1.89270376065956	0.00506	0.022424	1.56527611817999E-4	0.05650	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.74	-3.49	0.04424	-7.806000	0.00038	.	.	-2.013000	0.00440	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2555:0.1984:0.1534:0.3928	0.264	0.00206	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	179.43	247	chr19	8902149	.	A	T	179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.633;DP=2785;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.7;MQRankSum=-10.1;QD=0.81;ReadPosRankSum=-2.871;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,20:222:99:0|1:8902149_A_T:191,0,8395:8902149	9	0	1	0
chr19	8902156	8902156	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.A38612C:p.D12871A	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00357473049568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796235811	2.749e-06	0.0004	2.736e-06	2.763e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	1.663e-05	0	0.0003	0.0079	0.0002	0.0005	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0002	0	0.0007	0.0001	0	0.0003	0	0.0005	0.006	0.61437	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.44	0.56609	T	-2.2	0.49519	N	0.169	0.17966	-0.9350	0.43394	T	0.113	0.40422	T	8	0.06955856	0.09996	T	0.003575	0.08154	T	0.088	0.25558	.	.	0.130388298395	0.12655	0.41753436348199285	0.41669	.	.	0.351333498955	0.18118	T	.	.	.	-0.136654	0.30423	T	-0.434071	0.29475	T	0.159036123118717	0.17800	T	0.0969903	0.00718	T	.	.	.	.	.	.	.	.	-9.51	0.70921	D	.	.	0.156	0.34427	B	.	.	0.663459	0.10320	7.049	0.72664277129859833	0.10052	0.03658	0.08916	N	AEFBI	0.025685	0.01801	N	-1.34071273102934	0.03222	0.1435622	-1.5030359029776	0.02321	0.1065499	5.23920445838216E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	2.07	-3.17	0.04882	-0.020000	0.12466	.	.	-1.068000	0.01600	0.064000	0.21895	0.000000	0.08366	0.001000	0.02609	0.2051:0.3044:0.208:0.2826	0.411	0.00411	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	182.43	247	chr19	8902156	.	T	G	182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.087;DP=2865;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.33;MQRankSum=-6.506;QD=0.83;ReadPosRankSum=-2.692;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,20:221:99:0|1:8902149_A_T:194,0,8292:8902149	9	0	1	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	84.17	199	chr19	8908599	.	T	C	84.17	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.29;DP=1746;ExcessHet=0.2348;FS=31.552;InbreedingCoeff=-0.1956;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.493;QD=0.3;ReadPosRankSum=1.16;SOR=6.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,9:133:5:0|1:8908590_A_G:5,0,5180:8908590	5	0	2	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	93.24	200	chr19	8908602	.	C	T	93.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.62;DP=1748;ExcessHet=0.2348;FS=31.645;InbreedingCoeff=-0.2022;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.464;QD=0.33;ReadPosRankSum=1.36;SOR=6.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,9:132:8:0|1:8908590_A_G:8,0,5138:8908590	5	0	2	3
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:123,14:137:99:218,0,5118	4	0	5	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:125,14:139:99:212,0,5179	4	0	5	1
chr19	8975467	8975467	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G5672A:p.S1891N	.	434	1069	19	0	0	19	0.00880853	.	.	.	3208423	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00179810945064	0.0027	0.00199681	0.0043	0.0013	0.0014	0	0.0095	0.0057	0.0011	0.0025	0.0039909	617	154602	rs138381516	0.0041	0.0041	0.0041	0.0042	0.0044	0.0041	0.0040	0.0043	0.0042	0.0005	0.0016	0.0050	0	0.0101	0.0024	0.0044	0.0037	0.0023	0.0035	0.0035	0.0033	0.0037	0.0044	0.0032	0.0031	0.0040	0.0038	0.0006	0	0.0044	0.0032	0	0.0107	0.0068	0.0044	0.0028	0.0017	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.72	0.20358	N	0.029	0.00666	-0.9098	0.46879	T	0.006	0.02018	T	7	0.0061928034	0.00139	T	0.001798	0.03089	T	0.074	0.21613	.	.	0.0954503805726	0.09146	0.0777041636419737	0.07706	.	.	0.255685806274	0.04390	T	.	.	.	-0.707094	0.00033	T	-0.787102	0.02246	T	0.0210152579785477	0.00802	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	-4.977	0.36589	T	.	.	0.262	0.49673	B	.	.	0.132691	0.05280	1.777	0.45457973557953463	0.03569	0.00122	0.00764	N	AEFBI	0.019231	0.00649	N	-0.755817455938322	0.14476	0.7213874	-0.992618378551014	0.09950	0.4981169	9.78190115938903E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	-0.501000	0.06479	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1006.43	137	chr19	8975467	.	C	T	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.042;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.029;SOR=0.777	GT:AD:DP:GQ:PL	0/1:59,39:98:99:1018,0,1590	9	0	1	0
chr19	9474319	9474319	C	T	exonic	ZNF560	.	nonsynonymous SNV	ZNF560:NM_152476:exon4:c.G37A:p.V13M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.000729447120499	0.0025	0.00279553	0.0009	0.0090	0.0004	0.0001	0	3.041e-05	0	0	0.0007891	122	154602	rs145060906	0.0003	0.0003	0.0003	0.0003	0.0088	0.0002	0.0002	0.0080	0.0077	0.0088	0.0005	0	0	0	0	3.06e-05	0.0005	0.0001	0.0026	0.0026	0.0027	0.0024	0.0091	0.0024	0.0023	0.0083	0.0080	0.0091	0	0.0007	0	0.0002	0	0	0	0.0005	0.0002	0.122	0.27663	T	0.13	0.34716	T	0.269	0.31731	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	2.48	0.72069	M	3.37	0.05847	T	-0.41	0.14000	N	0.208	0.23125	-1.0459	0.15563	T	0.012	0.04416	T	9	0.007064134	0.00161	T	7.29E-4	0.00491	T	0.098	0.28162	.	.	0.0551355673512	0.04727	0.035258502835717645	0.03472	0.054329733866	0.06005	0.341424107552	0.16651	T	0.028315	0.20539	T	-0.628307	0.00098	T	-0.667762	0.07753	T	0.00997424594693502	0.00133	T	0.654235	0.26451	T	0.025838537	0.01567	0.04169071	0.04796	0.025838537	0.01567	0.04169071	0.04795	-5.364	0.40572	T	.	.	0.303	0.53198	B	.	.	1.533441	0.19672	14.38	0.51282988038426214	0.04535	0.06005	0.11969	N	AEFDBI	0.038370	0.05420	N	-1.12573857565081	0.06188	0.2842062	-1.23417017797945	0.05369	0.2556693	1.23002082296815E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.08	1.02	0.19102	1.004000	0.29423	.	.	-0.260000	0.06918	0.622000	0.27931	0.000000	0.08366	0.025000	0.12405	0.0:0.7709:0.2291:0.0	9.082	0.35717	952	0.10565	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	822.43	35	chr19	9474319	.	C	T	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=399;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.28;SOR=0.892	GT:AD:DP:GQ:PL	0/1:53,34:87:99:834,0,1241	9	0	1	0
chr19	11232216	11232216	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon23:c.C2792T:p.A931V	Adams-Oliver syndrome 2, Autosomal recessive	8	1501	13	0	0	13	0.00431177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0164832661021	.	.	0.0012	0.0038	0.0060	0	0	0.0012	0	0.0009	0.0001164	18	154602	rs546483832	0.0009	0.0007	0.0009	0.0010	0.0010	0.0009	0.0009	0.0010	0.0010	8.195e-05	0.0001	0.0004	0	7.682e-05	0.0005	0.0010	0.0005	0.0008	0.0007	0.0007	0.0008	0.0007	0.0017	0.0006	0.0006	0.0012	0.0011	0.0001	0	6.544e-05	0.0003	0	0	0	0.0014	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	1.55	0.29866	T	.	.	.	.	.	-0.9962	0.30974	T	0.027	0.11707	T	8	0.008235186	0.00187	T	0.016483	0.37757	T	.	.	.	.	0.166414681773	0.16258	.	.	.	.	.	.	.	0.009036	0.08254	T	-0.66842	0.00056	T	-0.7397	0.03903	T	0.0294352531274465	0.01903	T	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03515	B	.	.	2.410188	0.30976	18.60	0.97299676562686588	0.33271	0.64346	0.32377	D	AEFBHI	0.071678	0.14279	N	-0.437391869190072	0.24170	1.303172	-0.362738375310932	0.26118	1.440591	0.134523148348208	0.17156	0.67177	0.52595	0	0.601575	0.49859	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	4.52	-0.877	0.10083	1.618000	0.36565	.	.	0.618000	0.50648	0.982000	0.35529	0.021000	0.20819	0.993000	0.69303	0.2092:0.0:0.3912:0.3996	4.190	0.09877	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	421.43	33	chr19	11232216	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=358;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.248;SOR=0.889	GT:AD:DP:GQ:PL	0/1:30,20:50:99:433,0,717	9	0	1	0
chr19	11507779	11507779	G	A	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon4:c.C226T:p.P76S,ECSIT:NM_016581:exon6:c.C868T:p.P290S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.071656567893	.	.	3.305e-05	0	0	0	0	1.505e-05	0.0011	0.0001	2.59e-05	4	154602	rs779179352	7.525e-06	7.524e-06	2.723e-06	1.238e-05	0.0007	4.04e-06	2.95e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.91255	D	0.105	0.92824	T	0.981	0.59675	D	0.727	0.55167	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.905	0.84014	M	0.38	0.57575	T	-6.93	0.93404	D	0.923	0.92667	-0.4090	0.71742	T	0.334	0.70142	T	10	0.9459584	0.93921	D	0.071657	0.71328	D	0.676	0.88061	0.834	0.94231	0.619203848162	0.61612	0.7712171360803775	0.77071	0.844783948381	0.68233	0.537290930748	0.44064	T	0.51909	0.83148	D	0.168771	0.71010	D	0.278951	0.87069	D	0.674984893225039	0.39561	D	0.935906	0.76011	D	0.638093	0.74729	0.5389049	0.73352	0.638093	0.74730	0.5389049	0.73353	-7.198	0.55467	T	.	.	0.533	0.69987	A	.;.;.	.;.;.	4.826878	0.78677	26.9	0.9992829389431187	0.99222	0.98021	0.78937	D	AEFDBI	0.881651	0.80917	D	0.697260719209088	0.79451	7.080709	0.662458555835147	0.79543	7.104368	0.999999999999965	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	9.424000	0.96702	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.721	0.85268	759	0.50631	ECSIT, C-terminal domain|ECSIT, C-terminal domain;.;ECSIT, C-terminal domain|ECSIT, C-terminal 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	.	.	.	.	.	.	.	.	0.05	1258.43	40	chr19	11507779	.	G	A	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=524;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.469;SOR=0.833	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1270,0,1189	9	0	1	0
chr19	11616924	11616924	C	T	exonic	ZNF627	.	nonsynonymous SNV	ZNF627:NM_001290084:exon4:c.C91T:p.R31C,ZNF627:NM_001290085:exon4:c.C91T:p.R31C,ZNF627:NM_145295:exon4:c.C421T:p.R141C,ZNF627:NM_001290083:exon5:c.C325T:p.R109C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00222674930716	0.0013	0.00199681	0.0004	0.0040	0.0003	0	0	6.004e-05	0	0.0001	0.0003881	60	154602	rs115761607	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	0.0004	0	0.0002	0	0.0002	1.888e-05	0.0003	5.797e-05	0.0016	0.0016	0.0017	0.0014	0.0056	0.0014	0.0014	0.0050	0.0047	0.0056	0	0.0003	0	0	0	0	5.879e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.685427	0.33274	D	-3.64	0.00002	N	3.08	0.08460	T	4.32	0.00042	N	0.088	0.06587	-0.9441	0.41960	T	0.002	0.00707	T	9	0.010224074	0.00228	T	0.002227	0.04233	T	0.084	0.24469	.	.	0.171388866994	0.16791	0.06358278029088446	0.06297	0.327290207429	0.34864	0.205992653966	0.00652	T	0.020161	0.15924	T	-0.643796	0.00079	T	-0.695626	0.06068	T	0.00989546419169491	0.00131	T	0.814619	0.46840	T	0.046252348	0.07711	0.03415314	0.02431	0.046252348	0.07710	0.03415314	0.02431	-1.609	0.02003	T	.	.	0.081	0.08368	B	.	.	0.689757	0.10586	7.290	0.046142137339089923	0.00004	0.00010	0.00151	N	AEFDGBCI	0.014783	0.00250	N	-1.63560701172435	0.01097	0.04762301	-1.55708366683387	0.01927	0.08795023	0.0344922843129689	0.14157	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	1.36	0.283	0.14947	0.574000	0.23416	.	.	0.537000	0.25018	0.176000	0.24013	0.000000	0.08366	0.327000	0.25133	0.0:0.2435:0.0:0.7565	4.245	0.10118	798	0.45050	.	.	.	.	.	.	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	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1405.43	34	chr19	11616924	.	C	T	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.375;SOR=0.67	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1417,0,1476	9	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30759.7	133	chr19	12430730	.	A	*	30759.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.79;DP=1275;ExcessHet=0.3701;FS=0.587;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=57.68;MQRankSum=-5.478;QD=28.56;ReadPosRankSum=-0.16;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,65:133:99:0|1:12430718_C_A:2525,0,2639:12430718	9	0	1	0
chr19	14827916	14827916	C	T	exonic	OR7A5	.	nonsynonymous SNV	OR7A5:NM_017506:exon2:c.G326A:p.G109E,OR7A5:NM_001370480:exon3:c.G326A:p.G109E,OR7A5:NM_001370482:exon3:c.G326A:p.G109E,OR7A5:NM_001370483:exon3:c.G326A:p.G109E,OR7A5:NM_001370481:exon4:c.G326A:p.G109E	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0047	0.00179712	0.0034	0.0016	0.0010	0	0.0113	0.0042	0.0011	0.0017	0.0034928	540	154602	rs151164893	0.0050	0.0050	0.0052	0.0048	0.0056	0.0049	0.0049	0.0055	0.0054	0.0006	0.0009	0	0	0.0115	0.0012	0.0056	0.0043	0.0020	0.0035	0.0035	0.0034	0.0037	0.0044	0.0033	0.0032	0.0040	0.0038	0.0013	0.0011	0.0012	0	0	0.0143	0	0.0044	0.0009	0.0021	0.34	0.12714	T	0.291	0.20944	T	0.002	0.09854	B	0.007	0.12992	B	0.015875	0.01427	N	6.110550	1	0.08975	N	2.65	0.77586	M	3.52	0.04905	T	-3.01	0.62518	D	0.074	0.04790	-0.9832	0.34258	T	0.012	0.04700	T	10	0.005552739	0.00123	T	.	.	.	0.028	0.06331	.	.	0.303453137403	0.29957	0.4307170442688907	0.42988	0.0652125274148	0.07282	0.17109797895	0.00036	T	0.011802	0.10480	T	-0.646957	0.00075	T	-0.699474	0.05855	T	0.0240240720208212	0.01148	T	0.337566	0.07230	T	0.105336525	0.24904	0.11635654	0.28090	0.105336525	0.24904	0.11635654	0.28089	-6.912	0.53388	T	.	.	0.259	0.49412	B	.;.	.;.	-1.239253	0.00493	0.011	0.44122356033848198	0.03370	0.00866	0.03436	N	AEFBI	0.066614	0.13055	N	-1.83313438440145	0.00469	0.02018344	-2.00840549909386	0.00294	0.01298251	0.0954768510885733	0.16228	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.13	-6.26	0.01856	-4.005000	0.00356	.	.	-1.999000	0.00450	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3036:0.1885:0.3399:0.168	1.339	0.02020	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2410.43	38	chr19	14827916	.	C	T	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.225;DP=532;ExcessHet=0;FS=6.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.924;SOR=0.977	GT:AD:DP:GQ:PL	0/1:86,92:178:99:2422,0,2189	9	0	1	0
chr19	15372978	15372978	G	A	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C734T:p.P245L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.098938575206	.	.	3.337e-05	0	0	0	0	0	0.0017	0.0002	3.23e-05	5	154602	rs774386640	2.408e-05	3.283e-05	6.997e-06	4.159e-05	0.0003	1.733e-05	1.53e-05	0.0002	0.0002	0	2.616e-05	0	0	1.982e-05	0.0002	3.68e-06	0	0.0003	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000058	0.53742	D	0.000000	1	0.81001	D	2.255	0.64187	M	-0.11	0.64445	T	-1.97	0.45587	N	0.565	0.58883	-0.1520	0.78867	T	0.416	0.76292	T	10	0.52828854	0.63036	D	0.098939	0.77025	D	0.196	0.47777	0.229	0.15556	0.618175850084	0.61509	0.4913953343680154	0.49060	0.490765636778	0.47787	0.428801476955	0.29045	T	0.434456	0.78153	T	-0.213946	0.18827	T	-0.228939	0.51873	T	0.350140444676526	0.27024	T	0.838216	0.51127	T	0.23907952	0.46794	0.27562323	0.53500	0.23907952	0.46794	0.27562323	0.53499	-7.297	0.56174	T	.	.	0.117	0.23848	B	.	.	5.004690	0.83070	27.9	0.99855136497786934	0.93368	0.86912	0.46301	D	AEFDBCI	0.388636	0.46817	N	0.497309583088427	0.66931	5.014688	0.366046253725354	0.59480	4.126224	0.997171614148199	0.35344	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	5.806000	0.68817	.	.	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.524000	0.29567	0.0:0.0:1.0:0.0	15.065	0.71654	656	0.62345	.	.	.	.	.	.	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	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	703.43	33	chr19	15372978	.	G	A	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.071;DP=387;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.366;SOR=0.951	GT:AD:DP:GQ:PL	0/1:44,33:77:99:715,0,1070	9	0	1	0
chr19	15807802	15807802	G	A	exonic	OR10H1	.	nonsynonymous SNV	OR10H1:NM_013940:exon1:c.C236T:p.P79L	.	424	1096	2	0	0	2	0.000911577	.	.	.	3574091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.467	0.0137008403364	0.0002	.	0.0001	0	0	0.0001	0	8.053e-05	0	0.0005	0.0001229	19	154602	rs369544216	6.052e-05	6.02e-05	3.553e-05	8.585e-05	0.0004	4.988e-05	4.651e-05	0.0002	0.0002	0	0	3.868e-05	5.044e-05	0	0.0004	4.34e-05	9.986e-05	0.0003	2.629e-05	2.627e-05	3.855e-05	1.346e-05	6.549e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.953	0.69275	D	0.000141	0.49130	D	0.000000	1	0.81001	D	3.65	0.94181	H	1.78	0.25678	T	-9.82	0.98684	D	0.963	0.97317	-0.2838	0.75437	T	0.246	0.61495	T	10	0.88470393	0.87793	D	0.013701	0.33301	T	0.467	0.76222	.	.	0.676708332946	0.67396	.	.	1.40817712881	0.85376	0.303865611553	0.10980	T	0.02616	0.19414	T	-0.0704798	0.41250	T	-0.0315992	0.68262	D	0.995269358158112	0.87117	D	0.908309	0.67561	D	0.8307742	0.85956	0.6929018	0.81925	0.8307742	0.85958	0.6929018	0.81926	-10.362	0.76050	D	.	.	0.608	0.71233	P	.;.	.;.	4.620077	0.73354	26.0	0.9990239879319327	0.97426	0.99344	0.94786	D	AEFGBI	0.761687	0.69933	D	0.892689815611404	0.91396	10.86303	0.762809365721193	0.87111	9.110633	0.999983696520051	0.51787	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	9.155000	0.93856	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	15.153	0.72401	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000530	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3278.43	38	chr19	15807802	.	G	A	3278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.176;DP=984;ExcessHet=0;FS=2.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.09;MQRankSum=1.31;QD=13.55;ReadPosRankSum=-0.28;SOR=0.696	GT:AD:DP:GQ:PL	0/1:113,129:242:99:3290,0,2757	9	0	1	0
chr19	15886299	15886299	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon8:c.G928A:p.G310R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0495286203251	.	.	6.592e-05	9.614e-05	0	0.0008	0	0	0	0	5.17e-05	8	154602	rs754533672	3.352e-05	3.352e-05	3.403e-05	3.3e-05	0.0007	2.566e-05	2.312e-05	0.0005	0.0004	0.0002	0	0	0.0007	0	0	1.259e-05	1.656e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.981	0.75168	D	0.006607	0.31916	U	0.194761	0.999971	0.81001	D	3.625	0.93960	H	-0.53	0.70833	T	-7.29	0.94457	D	0.665	0.67391	0.249	0.86728	D	0.561	0.84003	D	10	0.7260611	0.73981	D	0.049529	0.63850	D	0.442	0.74518	0.506	0.60078	0.867009118844	0.86571	0.41598202362211645	0.41514	0.722711852425	0.62306	0.65931648016	0.61312	T	0.257931	0.62903	T	-0.134062	0.30840	T	-0.110337	0.62584	T	0.983151435852051	0.74927	D	0.867413	0.74741	D	0.7533006	0.81060	0.8061137	0.88654	0.7533006	0.81062	0.8061137	0.88655	-9.527	0.71026	D	.	.	0.248	0.48219	B	.;.	.;.	4.247477	0.64452	24.7	0.99846428839127466	0.92663	0.97840	0.77522	D	AEFBI	0.797192	0.72410	D	0.449209279067	0.64158	4.664179	0.242482305621895	0.52223	3.398575	0.101062082911926	0.16369	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.73	2.73	0.31266	6.322000	0.72847	.	.	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	11.180	0.47847	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	859.43	79	chr19	15886299	.	C	T	859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=779;ExcessHet=0;FS=11.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-3.182;SOR=0.146	GT:AD:DP:GQ:PL	0/1:41,33:74:99:871,0,945	9	0	1	0
chr19	16157610	16157610	A	G	exonic	HSH2D	.	nonsynonymous SNV	HSH2D:NM_001369808:exon6:c.A800G:p.K267R,HSH2D:NM_001382417:exon6:c.A875G:p.K292R,HSH2D:NM_032855:exon8:c.A875G:p.K292R	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00300081724648	0.0046	0.00119808	0.0039	0.0009	0.0010	0	0.0014	0.0058	0.0034	0.0031	0.0038357	593	154602	rs199804128	0.0047	0.0047	0.0047	0.0048	0.0120	0.0046	0.0046	0.0097	0.0089	0.0005	0.0015	0.0039	0	0.0023	0.0120	0.0053	0.0042	0.0040	0.0041	0.0041	0.0044	0.0039	0.0072	0.0039	0.0038	0.0067	0.0065	0.0008	0	0.0030	0.0035	0.0002	0.0024	0.0102	0.0072	0.0024	0.0027	.	.	.	0.513	0.10714	T	0.014	0.16867	B	0.004	0.10090	B	0.040388	0.01877	N	2.147890	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.076	0.05037	-1.0694	0.09545	T	0.057	0.23942	T	9	0.0037436783	0.00070	T	0.003001	0.06427	T	.	.	.	.	0.482574385019	0.47888	0.08723493134161577	0.08656	.	.	0.319280058146	0.13311	T	0.087332	0.37919	T	-0.648595	0.00074	T	-0.697331	0.05973	T	0.00116073254836227	0.00011	T	0.382662	0.09313	T	0.04141958	0.06096	0.038501974	0.03732	0.04141958	0.06096	0.038501974	0.03731	-2.71	0.07387	T	.	.	0.086	0.10594	B	.;.	.;.	0.825531	0.11971	8.528	0.90479400204510996	0.19737	0.21305	0.21354	N	AEFDBHCI	0.037032	0.05029	N	-0.949049384628444	0.09713	0.4609599	-1.01892541169492	0.09369	0.4657339	0.962544551025244	0.28630	0.631515	0.41029	0	0.697927	0.68747	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	3.5	0.289	0.14974	0.990000	0.29242	0.166000	0.15462	-0.050000	0.17177	0.091000	0.22601	0.000000	0.08366	0.076000	0.17014	0.6544:0.0:0.3456:0.0	5.909	0.18258	976	0.04745	.;.	.	.	.	.	.	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	0.011078	0.025253	0.012228	0.023392	0.050000	0.017241	0.003049	0.000000	0.05	1000.43	35	chr19	16157610	.	A	G	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=419;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.901;SOR=0.597	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1012,0,1546	9	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.022727	0.15	2907.45	75	chr19	19635648	.	G	T	2907.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.926;DP=514;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.916;SOR=0.711	GT:AD:DP:GQ:PL	0/1:44,41:85:99:965,0,990	7	0	3	0
chr19	21294212	21294213	AG	-	exonic	ZNF708	.	frameshift deletion	ZNF708:NM_001297561:exon3:c.561_562del:p.Y188Qfs*3,ZNF708:NM_001297560:exon4:c.561_562del:p.Y188Qfs*3,ZNF708:NM_021269:exon4:c.753_754del:p.Y252Qfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	5.472e-06	8.174e-06	2.752e-06	2.987e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1226.39	34	chr19	21294211	.	TAG	T	1226.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.374;DP=429;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-1.194;QD=14.96;ReadPosRankSum=1.58;SOR=0.972	GT:AD:DP:GQ:PL	0/1:49,33:82:99:1238,0,1958	9	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2025.92	50	chr19	21383393	.	G	*	2025.92	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.512;DP=557;ExcessHet=10.3881;FS=1.769;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=59.92;MQRankSum=0;QD=4.73;ReadPosRankSum=-0.219;SOR=0.6	GT:AD:DP:GQ:PL	0/1:36,29:65:99:1089,0,1411	7	0	3	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.05	2631.43	35	chr19	31278387	.	T	C	2631.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.457;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.547;SOR=0.69	GT:AD:DP:GQ:PL	0/1:85,101:186:99:2643,0,2189	9	0	1	0
chr19	32454966	32454966	A	T	exonic	DPY19L3	.	nonsynonymous SNV	DPY19L3:NM_001172774:exon10:c.A1015T:p.N339Y,DPY19L3:NM_207325:exon10:c.A1015T:p.N339Y	.	741	779	2	0	0	2	0.00128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0105430629319	7.7e-05	.	0.0002	9.862e-05	0	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs370340923	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0044	0.0039	0.0002	3.256e-05	0.0013	0	0	0.0060	0.0001	0.0004	0.0006	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.57e-05	6.276e-05	3.762e-05	2.575e-05	2.405e-05	0	6.533e-05	0.0014	0	0	0.0102	8.82e-05	0.0005	0.0002	0.038	0.42783	D	0.342	0.17910	T	0.096	0.25489	B	0.121	0.32300	B	0.031043	0.25222	N	0.479278	0.980927	0.25077	N	1.1	0.28011	L	0.51	0.55439	T	-1.63	0.39119	N	0.185	0.23125	-0.9673	0.37754	T	0.137	0.45432	T	10	0.0767799	0.12038	T	0.010543	0.27195	T	0.098	0.28162	.	.	0.439018943094	0.43523	0.5081814266587893	0.50740	0.33676110885	0.35672	0.376158237457	0.21711	T	0.041063	0.25735	T	-0.297062	0.08939	T	-0.355618	0.38561	T	0.0361607457760339	0.03009	T	0.874613	0.58533	D	0.08065795	0.18492	0.10251203	0.24570	0.08065795	0.18492	0.10251203	0.24570	-4.246	0.27412	T	.	.	0.074	0.05231	B	.;.;.	.;.;.	0.948975	0.13252	9.751	0.97689134615893713	0.35364	0.52437	0.29132	D	AEGBI	0.090476	0.18334	N	-0.258187366611987	0.30778	1.719352	-0.117094120805838	0.34699	1.999059	0.835461355058652	0.24770	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.08	5.04	0.67293	0.922000	0.28351	1.112000	0.24166	0.691000	0.84096	0.473000	0.26745	0.013000	0.20296	0.998000	0.85391	0.8568:0.1432:0.0:0.0	12.106	0.53115	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.025862	0.000000	0.003788	0.05	368.43	33	chr19	32454966	.	A	T	368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.172;DP=276;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.608;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,18:32:99:380,0,311	9	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.2	1287.57	84	chr19	32999679	.	G	A	1287.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.493;DP=1779;ExcessHet=1.5895;FS=0.727;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=54.17;MQRankSum=-5.929;QD=1.54;ReadPosRankSum=2.84;SOR=0.708	GT:AD:DP:GQ:PL	0/1:166,36:202:99:303,0,4511	6	0	4	0
chr19	36017436	36017436	G	T	exonic	CLIP3	.	nonsynonymous SNV	CLIP3:NM_001199570:exon11:c.C1466A:p.T489N,CLIP3:NM_015526:exon12:c.C1466A:p.T489N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0223782995277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.269	0.22426	T	0.0	0.02946	B	0.001	0.04355	B	0.007807	0.31183	N	0.291024	0.784272	0.34306	D	0.55	0.14455	N	-0.9	0.74896	T	-1.46	0.35792	N	0.549	0.57518	-0.9163	0.46050	T	0.156	0.48790	T	10	0.12263501	0.23268	T	0.022378	0.45263	T	0.109	0.30843	0.184	0.09259	0.430026717358	0.42623	0.28562367624209845	0.28475	0.549599089488	0.51857	0.552181601524	0.46166	T	0.050131	0.28506	T	-0.151761	0.28037	T	-0.45577	0.27061	T	0.117335453629494	0.14166	T	0.524548	0.17205	T	0.052801367	0.09900	0.06020558	0.11427	0.052801367	0.09900	0.06020558	0.11426	-4.972	0.36534	T	.	.	0.084	0.09868	B	.;.	.;.	2.244746	0.28667	17.87	0.96951388979265629	0.31739	0.68765	0.33926	D	AEFBI	0.132267	0.25151	N	-0.609143200544095	0.18669	0.9710826	-0.426727354603106	0.24216	1.324867	1.29712705254719E-4	0.05386	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	1.57	0.22490	1.824000	0.38710	7.186000	0.57761	-0.132000	0.13132	0.954000	0.33273	1.000000	0.68203	0.838000	0.39538	0.0:0.1442:0.4223:0.4334	8.108	0.30059	706	0.57215	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1584.43	42	chr19	36017436	.	G	T	1584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=457;ExcessHet=0;FS=3.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.23;SOR=0.458	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1596,0,1592	9	0	1	0
chr19	36937237	36937237	G	A	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204837:exon4:c.G161A:p.C54Y,ZNF568:NM_001204836:exon5:c.G161A:p.C54Y,ZNF568:NM_001204839:exon5:c.G161A:p.C54Y,ZNF568:NM_001204835:exon6:c.G353A:p.C118Y,ZNF568:NM_001204838:exon6:c.G353A:p.C118Y,ZNF568:NM_198539:exon6:c.G353A:p.C118Y	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00431679964732	.	.	8.347e-05	0	0	0	0	1.507e-05	0	0.0006	6.47e-05	10	154602	rs752347391	3.08e-05	3.078e-05	1.634e-05	4.54e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	0	0	0	0	8.996e-07	3.314e-05	0.0005	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.094	0.31383	T	0.416	0.79402	T	0.073	0.24078	B	0.018	0.18489	B	0.832781	0.09093	N	0.896444	1	0.08975	N	0.655	0.16177	N	5.57	0.08194	T	-2.67	0.57110	D	0.177	0.21580	-0.9154	0.46168	T	0.015	0.05897	T	10	0.034677297	0.01684	T	0.004317	0.10498	T	0.107	0.30369	0.35	0.34760	0.235664433957	0.23186	0.05907260125173746	0.05848	0.336704254348	0.35663	0.445661395788	0.31352	T	0.024527	0.18515	T	-0.565543	0.00235	T	-0.713881	0.05098	T	0.0324947279667343	0.02387	T	0.385361	0.17838	T	0.043590777	0.06821	0.11758004	0.28385	0.043590777	0.06821	0.11758004	0.28384	-3.996	0.35407	T	.	.	0.117	0.26388	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.072873	0.14556	11.12	0.47056146817446903	0.03818	0.02310	0.06631	N	AEFBI	0.040397	0.06003	N	-0.92234834343784	0.10321	0.4926109	-0.934514015222264	0.11283	0.5738673	2.14745711921286E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.2	-2.72	0.05616	-1.273000	0.02931	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2884:0.3186:0.2688:0.1243	1.444	0.02218	667	0.61242	Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	253.43	35	chr19	36937237	.	G	A	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.012;DP=322;ExcessHet=0;FS=13.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.213;SOR=0.018	GT:AD:DP:GQ:PL	0/1:9,12:21:99:265,0,292	9	0	1	0
chr19	37363386	37363386	G	A	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.G1411A:p.G471R,ZNF875:NM_001329776:exon4:c.G1408A:p.G470R,ZNF875:NM_001329761:exon5:c.G1537A:p.G513R,ZNF875:NM_001329762:exon5:c.G1537A:p.G513R,ZNF875:NM_001329764:exon5:c.G1534A:p.G512R,ZNF875:NM_001329768:exon5:c.G1495A:p.G499R,ZNF875:NM_001329769:exon5:c.G1492A:p.G498R,ZNF875:NM_001329779:exon5:c.G1249A:p.G417R,ZNF875:NM_001353803:exon5:c.G1534A:p.G512R,ZNF875:NM_001329772:exon6:c.G1411A:p.G471R,ZNF875:NM_001329775:exon6:c.G1408A:p.G470R,ZNF875:NM_001329777:exon6:c.G1408A:p.G470R,ZNF875:NM_001329778:exon6:c.G1408A:p.G470R,ZNF875:NM_181786:exon6:c.G1591A:p.G531R,ZNF875:NM_001329766:exon7:c.G1519A:p.G507R,ZNF875:NM_001329771:exon7:c.G1411A:p.G471R,ZNF875:NM_001329774:exon7:c.G1408A:p.G470R,ZNF875:NM_001329763:exon8:c.G1534A:p.G512R,ZNF875:NM_001329765:exon8:c.G1519A:p.G507R,ZNF875:NM_001329767:exon8:c.G1516A:p.G506R,ZNF875:NM_001329770:exon8:c.G1477A:p.G493R	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0032	0.0061901	0.0056	0.0004	0.0005	0.0018	0.0012	0.0034	0.0055	0.0245	0.0051487	796	154602	rs150628887	0.0044	0.0044	0.0037	0.0051	0.0240	0.0043	0.0043	0.0232	0.0228	0.0003	0.0007	0.0028	0.0013	0.0012	0.0016	0.0035	0.0039	0.0240	0.0025	0.0025	0.0023	0.0027	0.0239	0.0023	0.0022	0.0203	0.0190	0.0004	0	0.0008	0.0035	0.0017	0.0008	0	0.0030	0.0019	0.0239	0.034	0.78490	D	0.02	0.74150	D	1.0	0.90584	D	0.974	0.73157	D	.	.	.	.	1	0.81001	D	2.525	0.73725	M	2.01	0.22678	T	-6.41	0.91226	D	0.206	0.30914	-1.0571	0.12491	T	0.104	0.38144	T	9	0.005761355	0.00128	T	.	.	.	0.186	0.46104	0.694	0.83126	0.110078149338	0.10416	0.06289950287391849	0.06228	0.115367463393	0.13009	0.477684020996	0.35738	T	0.154281	0.51483	T	-0.400692	0.02292	T	-0.329419	0.41535	T	0.0412854200666894	0.03923	T	0.864413	0.57175	D	0.39097175	0.60101	0.32962814	0.58840	0.39097175	0.60101	0.32962814	0.58839	-7.552	0.58722	D	.	.	0.395	0.60878	A	.;.;.;.;.;.	.;.;.;.;.;.	2.652812	0.34540	19.66	0.99836355148312439	0.91714	0.83284	0.42414	D	AEFDBI	0.245503	0.36642	N	0.128706712354709	0.47806	3.001184	0.011668260501179	0.40255	2.399558	0.999063389189316	0.38343	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	0.421	0.15669	3.609000	0.53867	.	.	0.671000	0.69459	1.000000	0.71638	0.002000	0.18203	0.934000	0.47231	0.2384:0.0:0.7616:0.0	7.503	0.26695	689	0.59000	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.011364	0.05	2293.43	166	chr19	37363386	.	G	A	2293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.798;DP=871;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.035;SOR=0.756	GT:AD:DP:GQ:PL	0/1:81,88:169:99:2305,0,2163	9	0	1	0
chr19	40380589	40380589	C	T	exonic	HIPK4	.	nonsynonymous SNV	HIPK4:NM_144685:exon3:c.G1402A:p.D468N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00319489	0.0015	9.724e-05	8.655e-05	0	0	0	0	0.0105	0.0012484	193	154602	rs541882458	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0.0002	0	2.519e-05	0	0.0002	4.497e-06	0.0004	0.0078	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	0.0002	0	0.0002	0	0	0	0	1.47e-05	0	0.0054	0.099	0.30656	T	0.558	0.09175	T	0.001	0.07471	B	0.001	0.04355	B	0.013707	0.28756	N	0.243373	0.999413	0.21230	N	0.345	0.11182	N	-0.16	0.65378	T	-0.41	0.14000	N	0.203	0.22486	-0.9320	0.43844	T	0.130	0.44009	T	10	0.005753994	0.00128	T	.	.	.	0.059	0.16972	.	.	0.776910363928	0.77485	0.16769956769693192	0.16689	0.315794426157	0.33856	0.426644384861	0.28750	T	0.005508	0.04962	T	-0.581452	0.00189	T	-0.601169	0.12714	T	0.023439875047356	0.01076	T	0.676232	0.28483	T	0.035019863	0.04044	0.031988587	0.01867	0.035019863	0.04044	0.031988587	0.01867	-4.454	0.30283	T	.	.	0.074	0.05103	B	.	.	0.987706	0.13652	10.19	0.99182591871840386	0.54730	0.25623	0.22754	N	AEFBCI	.	.	.	-0.665538206149021	0.17009	0.8716475	-0.612938999266589	0.19160	1.026805	2.86557649046093E-4	0.06355	0.514905	0.20481	0	0.514364	0.08380	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.18	3.15	0.35301	1.173000	0.31529	.	.	-0.190000	0.09434	0.038000	0.20882	0.076000	0.22303	0.001000	0.02609	0.0:0.8964:0.0:0.1036	9.292	0.36954	726	0.54788	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	824.43	33	chr19	40380589	.	C	T	824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.92;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.336;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,28:69:99:836,0,1087	9	0	1	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	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	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.1	2884.12	78	chr19	40749800	.	T	C	2884.12	.	AC=2;AF=0.1;AN=20;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.36;SOR=0.999	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2907,285,0	9	1	0	0
chr19	41088481	41088481	T	G	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.T10G:p.S4A	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00934251760206	.	.	1.686e-05	0	0	0	0	3.04e-05	0	0	1.29e-05	2	154602	rs749106936	1.163e-05	1.163e-05	9.533e-06	1.376e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.313e-05	0	1.313e-05	1.312e-05	0	2.685e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.495	0.07870	T	0.423	0.13993	T	0.431	0.35606	B	0.071	0.27960	B	0.278728	0.14986	U	0.555882	0.999958	0.19072	N	2.095	0.58118	M	-0.35	0.68616	T	-0.59	0.17624	N	0.241	0.27197	-0.9877	0.33175	T	0.144	0.46714	T	10	0.15571707	0.29343	T	0.009343	0.24506	T	0.072	0.21020	0.327	0.31034	0.689064770846	0.68639	0.45085306463217445	0.45003	0.0842505692678	0.09510	0.588306367397	0.51256	T	0.020545	0.16160	T	-0.185437	0.22930	T	-0.440498	0.28752	T	0.114265814423561	0.13860	T	0.433957	0.11861	T	0.07853695	0.17891	0.055832453	0.09868	0.07853695	0.17891	0.055832453	0.09867	-3.414	0.15245	T	.	.	0.069	0.03162	B	.	.	2.633994	0.34254	19.58	0.9672076781186123	0.30847	0.30910	0.24203	N	AEFGBI	0.054027	0.09787	N	-0.381124370542439	0.26142	1.424471	-0.31414143063272	0.27640	1.535246	2.36197179150067E-4	0.06095	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.3	3.3	0.36912	0.261000	0.18211	2.023000	0.30218	0.622000	0.51765	0.307000	0.25387	0.897000	0.27914	0.848000	0.40082	0.0:0.0:0.242:0.758	6.734	0.22587	730	0.54327	.	.	.	.	.	.	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	0.000541	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	690.43	33	chr19	41088481	.	T	G	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.715;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0.824;QD=7.94;ReadPosRankSum=0.87;SOR=0.704	GT:AD:DP:GQ:PL	0/1:53,34:87:99:702,0,1511	9	0	1	0
chr19	42410516	42410516	G	A	exonic	LIPE	.	nonsynonymous SNV	LIPE:NM_005357:exon2:c.C1210T:p.R404C	Lipodystrophy, familial partial, type 6, Autosomal recessive	410	1095	17	0	0	17	0.00770276	.	.	.	728230	LIPE-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.566	0.217913522877	0.0044	0.000599042	0.0036	0.0015	0.0010	0	0.0080	0.0049	0.0056	0.0018	0.0004269	66	154602	rs138983180	0.0048	0.0048	0.0049	0.0048	0.0055	0.0047	0.0047	0.0053	0.0053	0.0007	0.0013	0.0010	2.519e-05	0.0076	0.0038	0.0055	0.0051	0.0019	0.0036	0.0036	0.0036	0.0035	0.0059	0.0033	0.0032	0.0054	0.0053	0.0010	0	0.0012	0.0014	0	0.0062	0	0.0059	0.0005	0.0012	0.003	0.68238	D	0.001	0.92824	D	0.999	0.77913	D	0.861	0.61279	P	0.003323	0.35096	N	0.232206	1	0.81001	D	2.585	0.75554	M	0.65	0.52642	T	-7.28	0.94430	D	0.881	0.87917	-0.3808	0.72626	T	0.249	0.61866	T	10	0.0105186105	0.00234	T	0.217914	0.87632	D	0.566	0.82289	.	.	0.869721110156	0.86845	0.8210747669947854	0.82064	1.22324046253	0.81136	0.691025555134	0.65854	T	0.46375	0.79958	T	-0.0509617	0.44301	T	0.156355	0.80581	D	0.0337942663889258	0.02603	T	0.974103	0.91674	D	0.49857038	0.67011	0.5631909	0.74722	0.5365773	0.69205	0.5071764	0.71518	-11.802	0.83873	D	.	.	0.789	0.76787	P	.;.;.;.	.;.;.;.	5.589615	0.92369	32	0.99942172151798381	0.99824	0.96976	0.71977	D	AEFDBI	0.901363	0.84798	D	0.789468981113959	0.85442	8.577299	0.728123934369746	0.84515	8.31318	0.999999973223675	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.42	4.42	0.52775	5.337000	0.65713	11.704000	0.94545	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.327	0.82823	564	0.70960	Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	372.43	34	chr19	42410516	.	G	A	372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=349;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-2.095;SOR=1.022	GT:AD:DP:GQ:PL	0/1:25,14:39:99:384,0,677	9	0	1	0
chr19	42754453	42754453	A	G	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.T757C:p.S253P,PSG8:NM_001130167:exon5:c.T1123C:p.S375P,PSG8:NM_182707:exon5:c.T1123C:p.S375P	.	10	1494	18	0	0	18	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0044	0.0125799	0.0070	0.0019	0.0015	0.0303	0.0009	0.0041	0.0033	0.0166	0.0067011	1036	154602	rs114673766	0.0066	0.0066	0.0062	0.0069	0.0265	0.0065	0.0064	0.0252	0.0246	0.0008	0.0012	0.0010	0.0265	0.0010	0.0017	0.0058	0.0078	0.0171	0.0050	0.0050	0.0047	0.0053	0.0301	0.0047	0.0046	0.0263	0.0248	0.0011	0	0.0014	0.0014	0.0301	0.0009	0.0034	0.0059	0.0009	0.0234	0.054	0.38633	T	0.029	0.65728	D	0.014	0.16867	B	0.011	0.16012	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	2.64	0.12780	T	-2.81	0.65397	D	0.243	0.28616	-0.9589	0.39386	T	0.008	0.02760	T	9	0.003725946	0.00069	T	.	.	.	0.031	0.07369	.	.	0.0297737177859	0.01360	0.05822754172189655	0.05763	0.00627687952972	0.00547	0.451715141535	0.32179	T	0.010489	0.09467	T	-0.587922	0.00173	T	-0.593601	0.13356	T	0.00400876256644669	0.00043	T	0.339366	0.09705	T	0.2428199	0.47214	0.2267307	0.47660	0.2428199	0.47214	0.2267307	0.47659	-7.537	0.57870	D	.	.	0.058	0.04119	B	.;.;.;.	.;.;.;.	0.276961	0.06543	3.026	0.70176179802681282	0.09210	0.00202	0.01159	N	AEFI	0.036801	0.04962	N	-1.31928889131163	0.03454	0.1543454	-1.46388242005994	0.02647	0.1221067	2.1595115367846E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-1.15	0.09211	0.564000	0.23265	-0.799000	0.07382	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4296:0.0:0.2426:0.3278	1.393	0.02118	432	0.80690	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003723	0.000000	0.000000	0.004132	0.000000	0.008621	0.006173	0.007576	0.05	4430.43	33	chr19	42754453	.	A	G	4430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=653;ExcessHet=0;FS=0.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-5.628;QD=13.23;ReadPosRankSum=-1.647;SOR=0.721	GT:AD:DP:GQ:PL	0/1:143,192:335:99:4442,0,3230	9	0	1	0
chr19	42764233	42764233	A	G	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130167:exon2:c.T113C:p.I38T,PSG8:NM_182707:exon2:c.T113C:p.I38T	.	10	1495	17	0	0	17	0.00565348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0052	0.0129792	0.0075	0.0019	0.0016	0.0322	0.0009	0.0047	0.0033	0.0167	0.0071668	1108	154602	rs75687580	0.0071	0.0071	0.0067	0.0075	0.0277	0.0070	0.0069	0.0264	0.0258	0.0008	0.0013	0.0010	0.0277	0.0010	0.0017	0.0064	0.0087	0.0173	0.0054	0.0054	0.0051	0.0057	0.0318	0.0051	0.0049	0.0278	0.0263	0.0013	0	0.0016	0.0014	0.0318	0.0009	0.0034	0.0065	0.0014	0.0237	0.092	0.31682	T	0.042	0.50514	D	0.927	0.77913	P	0.939	0.92359	D	.	.	.	.	1	0.08975	N	3.095	0.87515	M	-0.02	0.62918	T	-2.83	0.64593	D	0.175	0.22614	-0.8374	0.52819	T	0.150	0.47699	T	9	0.0044965744	0.00092	T	.	.	.	0.147	0.38986	.	.	0.136095386433	0.13204	0.10076108927009744	0.10007	0.0336267795191	0.03527	0.473297297955	0.35134	T	0.022587	0.17389	T	-0.479419	0.00745	T	-0.436362	0.29217	T	0.0581251568778658	0.06870	T	0.777722	0.41106	T	0.17170264	0.37819	0.2813132	0.54112	0.17170264	0.37818	0.2813132	0.54111	-6.143	0.47460	T	.	.	0.118	0.29004	B	.;.;.	.;.;.	1.386717	0.17989	13.48	0.97959423630021947	0.37165	0.00618	0.02733	N	AEFDI	0.032792	0.03771	N	-0.317218749949818	0.28494	1.572	-0.674468267505684	0.17600	0.9365933	0.00202115787133327	0.09096	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.35	0.277	0.14921	0.407000	0.20770	0.372000	0.17687	-0.483000	0.05064	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7496:0.0:0.2504:0.0	3.299	0.06565	410	0.82135	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003209	0.000000	0.000000	0.004167	0.000000	0.008621	0.003125	0.007692	0.05	2896.43	42	chr19	42764233	.	A	G	2896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=702;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.46;QD=13.47;ReadPosRankSum=0.508;SOR=0.766	GT:AD:DP:GQ:PL	0/1:105,110:215:99:2908,0,2639	9	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y,PSG6:NM_002782:exon2:c.C364T:p.H122Y	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010440	0.000000	0.009511	0.008333	0.000000	0.017241	0.022581	0.003968	0.05	4137.43	259	chr19	42916188	.	G	A	4137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.96;DP=2384;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.179;QD=9.58;ReadPosRankSum=0.821;SOR=0.814	GT:AD:DP:GQ:PL	0/1:252,180:432:99:4149,0,6418	9	0	1	0
chr19	42929584	42929584	C	A	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.G201T:p.M67I,PSG7:NM_002783:exon3:c.G567T:p.M189I	.	11	1494	16	1	0	18	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.013778	0.0069	0.0235	0.0016	0.0022	0	4.497e-05	0.0022	0.0333	0.0061577	952	154602	rs142253248	0.0029	0.0029	0.0020	0.0038	0.0335	0.0028	0.0028	0.0325	0.0321	0.0255	0.0015	0	0.0014	0	0.0035	6.119e-05	0.0041	0.0335	0.0079	0.0079	0.0075	0.0083	0.0376	0.0075	0.0074	0.0331	0.0314	0.0229	0	0.0020	0	0.0033	0	0.0068	5.893e-05	0.0071	0.0376	.	.	.	0.243	0.24406	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.07125	.	.	.	.	.	.	.	0.0036530495	0.00067	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.052343743308137944	0.05176	.	.	0.504371106625	0.39437	T	0.00281	0.02207	T	-0.40364	0.02191	T	-0.328203	0.41669	T	.	.	.	0.39616	0.10064	T	0.19525424	0.41307	0.16165401	0.37590	0.19525424	0.41307	0.16165401	0.37589	-3.333	0.14166	T	.	.	0.121	0.35393	B	.;.;.	.;.;.	-0.621029	0.01515	0.097	0.46984665577688489	0.03806	0.00118	0.00744	N	AEFBI	0.014153	0.00215	N	.	.	.	.	.	.	0.00296000797150983	0.09827	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	-1.7	0.07721	0.163000	0.16338	-1.217000	0.05997	-0.436000	0.05186	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2468:0.3346:0.4186:0.0	2.460	0.04262	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.005051	0.000000	0.002941	0.000000	0.000000	0.006098	0.015152	0.05	3661.43	218	chr19	42929584	.	C	A	3661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.319;DP=1543;ExcessHet=0;FS=1.882;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.412;SOR=0.828	GT:AD:DP:GQ:PL	0/1:152,156:308:99:3673,0,3796	9	0	1	0
chr19	44386662	44386662	T	C	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.A1118G:p.N373S,ZNF285:NM_001291489:exon4:c.A1583G:p.N528S,ZNF285:NM_152354:exon4:c.A1583G:p.N528S,ZNF285:NM_001291488:exon5:c.A1604G:p.N535S,ZNF285:NM_001291490:exon5:c.A1118G:p.N373S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00141542308911	.	0.00219649	0.0015	0.0009	0.0007	0.0058	0.0006	0.0013	0.0011	0.0019	0.0013648	211	154602	rs138614800	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0032	0.0030	0.0006	0.0007	0.0002	0.0037	0.0008	0.0005	0.0006	0.0008	0.0018	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0008	0	0.0005	0	0.0039	0.0009	0	0.0008	0.0005	0.0027	.	.	.	0.248	0.23845	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	.	.	.	0.029	0.01203	-0.9240	0.44999	T	0.007	0.02360	T	9	0.0034068823	0.00060	T	0.001415	0.02088	T	0.034	0.08419	.	.	0.0482279557977	0.04254	0.011753991045467467	0.01135	.	.	.	.	.	.	.	.	-0.41856	0.01747	T	-0.839009	0.01114	T	0.000429330163235466	0.00003	T	0.676632	0.28519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.35456	B	.;.;.	.;.;.	0.920123	0.12949	9.457	0.96089562142337637	0.28679	0.10380	0.15903	N	AEFBI	0.160663	0.28662	N	-1.08584268200692	0.06904	0.3191383	-1.04220910674553	0.08870	0.4382764	9.65829093234977E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.6	0.88	0.18296	-1.134000	0.03340	.	.	0.566000	0.28629	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1449:0.1134:0.2138:0.528	1.685	0.02669	912	0.21483	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1380.43	44	chr19	44386662	.	T	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.489;DP=816;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.28;MQRankSum=-10.04;QD=10.54;ReadPosRankSum=0.71;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,40:131:99:0|1:44386639_C_T:1392,0,3676:44386639	9	0	1	0
chr19	44386663	44386663	T	G	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.A1117C:p.N373H,ZNF285:NM_001291489:exon4:c.A1582C:p.N528H,ZNF285:NM_152354:exon4:c.A1582C:p.N528H,ZNF285:NM_001291488:exon5:c.A1603C:p.N535H,ZNF285:NM_001291490:exon5:c.A1117C:p.N373H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00101066471441	.	0.00219649	0.0015	0.0009	0.0007	0.0058	0.0006	0.0013	0.0011	0.0019	0.0013648	211	154602	rs148896964	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0032	0.0030	0.0006	0.0007	0.0002	0.0037	0.0008	0.0005	0.0006	0.0008	0.0018	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0008	0	0.0005	0	0.0039	0.0009	0	0.0008	0.0005	0.0027	.	.	.	0.428	0.13872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.16	0.07711	T	.	.	.	0.053	0.03841	-0.9305	0.44066	T	0.013	0.05321	T	9	0.0035752356	0.00065	T	0.001011	0.01096	T	0.055	0.15663	.	.	0.0551355673512	0.04727	0.019606482775066155	0.01914	.	.	.	.	.	.	.	.	-0.386023	0.02853	T	-0.792272	0.02103	T	0.000133310270030051	0.00001	T	0.0275972	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02927	B	.;.;.	.;.;.	0.504703	0.08736	5.512	0.11405484501887174	0.00170	0.00672	0.02895	N	AEFBI	0.040189	0.05941	N	-0.977769937584768	0.09080	0.4282675	-0.93696322861287	0.11226	0.5706405	1.33638809868785E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.6	2.23	0.27189	0.257000	0.18137	.	.	-0.210000	0.08370	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1506:0.1873:0.2786:0.3835	0.905	0.01201	912	0.21483	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1352.43	44	chr19	44386663	.	T	G	1352.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.845;DP=815;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.44;MQRankSum=-9.981;QD=10.4;ReadPosRankSum=1.4;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,39:130:99:0|1:44386639_C_T:1364,0,3679:44386639	9	0	1	0
chr19	45143599	45143599	C	A	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon8:c.C953A:p.T318K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.24813453289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	.	.	.	.	.	.	0.000001	0.84330	D	0.055039	0.999979	0.53665	D	0.975	0.24501	L	0.42	0.56937	T	-5.08	0.82896	D	0.673	0.68082	-0.4482	0.70460	T	0.303	0.67390	T	8	0.7040319	0.72624	D	0.248135	0.88997	D	0.354	0.67510	0.561	0.68093	0.320256813643	0.31633	0.7913260275057685	0.79084	.	.	0.766764044762	0.76939	T	0.121408	0.44434	T	0.198459	0.73747	D	0.0472964	0.73406	D	0.994463622570038	0.85769	D	0.885311	0.61048	D	0.73083866	0.79771	0.6251771	0.78153	0.73083866	0.79772	0.6251771	0.78154	-15.552	0.97011	D	.	.	0.832	0.78812	P	.	.	5.152047	0.86294	28.9	0.99408513365842832	0.63169	0.91756	0.54196	D	AEFDGBHCI	0.633527	0.61374	D	0.374623414827294	0.60049	4.189881	0.387100998496991	0.60768	4.268279	0.999994444251754	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.1	4.0	0.45673	4.602000	0.60805	5.879000	0.50621	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.8332:0.1668:0.0	12.736	0.56595	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1003.43	34	chr19	45143599	.	C	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-1.341;SOR=0.765	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1015,0,1106	9	0	1	0
chr19	46777006	46777006	T	G	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon6:c.A751C:p.I251L,SLC1A5:NM_001145144:exon7:c.A673C:p.I225L,SLC1A5:NM_005628:exon7:c.A1357C:p.I453L	.	411	1069	41	1	0	43	0.0197157	.	.	.	705105	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00259585	0.0075	0.0014	0.0041	0	0.0012	0.0108	0.0100	0.0065	0.0074967	1159	154602	rs79376478	0.0086	0.0086	0.0085	0.0087	0.0163	0.0085	0.0084	0.0136	0.0126	0.0015	0.0045	0.0239	2.519e-05	0.0017	0.0163	0.0094	0.0085	0.0068	0.0061	0.0061	0.0064	0.0058	0.0095	0.0058	0.0056	0.0089	0.0087	0.0015	0	0.0037	0.0245	0	0.0017	0.0170	0.0095	0.0095	0.0062	0.202	0.20230	T	0.227	0.26883	T	0.005	0.12996	B	0.019	0.18783	B	0.000078	0.52346	N	0.168732	0.984442	0.41804	D	0.825	0.20901	L	0.3	0.58755	T	-1.27	0.31981	N	0.23	0.26596	-1.0443	0.16030	T	0.087	0.33718	T	10	0.009442538	0.00213	T	.	.	.	0.062	0.17934	.	.	0.517047913619	0.51347	0.8662070877696606	0.86585	0.62724228678	0.56829	0.394909203053	0.24359	T	0.124516	0.44960	T	-0.488867	0.00659	T	-0.467039	0.25835	T	0.0100967667990245	0.00136	T	0.837116	0.50934	T	0.15600532	0.35229	0.106057376	0.25506	0.15600532	0.35229	0.106057376	0.25505	-4.657	0.41700	T	.	.	0.089	0.16582	B	.;.;.;.	.;.;.;.	1.876225	0.23830	16.17	0.96731452154264008	0.30888	0.86232	0.45473	D	AEFDBHCI	0.404100	0.47752	N	-0.41891105816171	0.24806	1.342061	-0.250921610411475	0.29741	1.66865	0.999994424925588	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.59	0.56297	1.814000	0.38610	4.342000	0.43061	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	0.0:0.0:0.1779:0.8221	12.044	0.52767	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.010101	0.016304	0.002924	0.000000	0.008621	0.018293	0.019084	0.05	846.43	34	chr19	46777006	.	T	G	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=391;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.811;SOR=0.804	GT:AD:DP:GQ:PL	0/1:45,33:78:99:858,0,1055	9	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M,LIG1:NM_001289063:exon11:c.G952A:p.V318M,LIG1:NM_001320971:exon11:c.G955A:p.V319M,LIG1:NM_000234:exon12:c.G1045A:p.V349M,LIG1:NM_001320970:exon12:c.G1042A:p.V348M	DNA ligase I deficiency (3)	415	1099	7	1	0	9	0.00407793	.	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.012195	0.011364	0.05	2421.43	38	chr19	48140013	.	C	T	2421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.5;DP=597;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.934;SOR=0.649	GT:AD:DP:GQ:PL	0/1:104,97:201:99:2433,0,2383	9	0	1	0
chr19	48297304	48297304	A	G	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_144577:exon14:c.T1685C:p.F562S,CCDC114:NM_001364171:exon16:c.T1796C:p.F599S	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	847809	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0474610487581	0.0008	.	0.0002	0.0018	0	0	0	0	0	0	0.0001229	19	154602	rs144225230	4.995e-05	4.994e-05	5.991e-05	3.989e-05	0.0018	4.06e-05	3.735e-05	0.0014	0.0013	0.0018	4.472e-05	0	0	0	0	8.993e-07	0.0001	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0016	0.0015	0.0020	0	0.0005	0	0	0	0	0	0.0005	0	0.477	0.08310	T	0.61	0.07691	T	0.998	0.73220	D	0.917	0.65306	D	.	.	.	.	0.999364	0.21303	N	1.04	0.26193	L	1.56	0.29602	T	-2.09	0.47683	N	0.348	0.38950	-1.0606	0.11607	T	0.091	0.34737	T	9	0.039813906	0.02500	T	0.047461	0.62934	D	0.114	0.32008	.	.	0.559773648941	0.55639	0.48078943446575395	0.47998	1.05267121501	0.76208	0.366484433413	0.20327	T	0.009907	0.08988	T	-0.421778	0.01667	T	-0.391862	0.34335	T	0.0746764762499282	0.09292	T	0.359964	0.08281	T	0.12575203	0.29471	0.11653903	0.28132	0.12575203	0.29471	0.11653903	0.28132	-2.841	0.08567	T	.	.	0.408	0.60046	A	.	.	2.638695	0.34328	19.60	0.99752216586457532	0.84382	0.45680	0.27592	N	AEFDBHCI	0.065857	0.12867	N	-0.0373602571752742	0.40170	2.38098	-0.160266920782633	0.33015	1.884181	0.075738928902504	0.15705	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.97	2.95	0.33285	1.650000	0.36908	5.836000	0.50206	0.756000	0.94297	0.764000	0.29288	1.000000	0.68203	0.069000	0.16583	0.8697:0.0:0.1303:0.0	5.277	0.14967	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	69	chr19	48297304	.	A	G	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.439;DP=489;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.076;SOR=0.717	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1054,0,1260	9	0	1	0
chr19	48442702	48442702	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G2776A:p.A926T	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.039860558081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.884e-07	4.447e-05	1.895e-06	0	1.14e-06	0	0	.	.	0	0	0	0	0	0	1.14e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.246	0.23984	T	0.014	0.16867	B	0.007	0.12992	B	0.966414	0.07750	N	1.034810	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.07	0.08033	N	0.076	0.05037	-1.0186	0.24171	T	0.056	0.23639	T	10	0.07767245	0.12287	T	0.039861	0.59048	D	0.016	0.02506	0.269	0.21735	0.416446257289	0.41261	0.2737244558671809	0.27285	.	.	0.896963834763	0.96096	D	0.06191	0.31777	T	-0.248062	0.14337	T	-0.5941	0.13313	T	0.0714632456199657	0.08855	T	0.49515	0.15352	T	0.057356976	0.11405	0.09663981	0.22970	0.057356976	0.11404	0.09663981	0.22969	-5.64	0.43156	T	.	.	0.084	0.09627	B	.	.	1.486237	0.19127	14.10	0.97680817101345607	0.35311	0.03743	0.09044	N	AEFDBI	0.031790	0.03466	N	-0.91960826770863	0.10384	0.4959481	-0.91649022663941	0.11706	0.5979691	0.504657700782257	0.20971	0.59774	0.34471	0	0.547309	0.14657	0	0.550215	0.18615	0	0.63947	0.58350	0	.	.	2.78	-0.0939	0.12983	0.422000	0.21016	0.892000	0.22480	0.540000	0.25189	0.000000	0.06391	0.108000	0.22760	0.267000	0.23694	0.0:0.2211:0.4072:0.3717	4.382	0.10733	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	39.02	1	chr19	48442702	.	G	A	39.02	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.812;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.0902;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.282;SOR=0.551	GT:AD:DP:GQ:PL	0/1:7,2:9:50:50,0,229	9	0	1	0
chr19	48894997	48894997	C	T	splicing	TULP2	NM_003323:exon6:c.514+1G>A	.	.	.	433	1088	1	0	0	1	0.000459348	1.0000	0.858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00519169	0.0021	0.0237	0.0007	0	0	1.512e-05	0	0	0.0019599	303	154602	rs76100543	0.0007	0.0007	0.0008	0.0007	0.0265	0.0007	0.0007	0.0250	0.0245	0.0265	0.0011	0	0	0	0.0011	1.531e-05	0.0018	1.166e-05	0.0068	0.0069	0.0072	0.0064	0.0240	0.0065	0.0063	0.0227	0.0222	0.0240	0	0.0024	0	0	0	0.0034	2.941e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119577	0.33194	T	0.0737129	0.75159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.474150	0.69744	25.4	0.99172097161484851	0.54412	0.94806	0.62393	D	AEFBI	.	.	.	0.865008050564996	0.89945	10.18537	0.650654699435265	0.78660	6.920941	0.999883441152607	0.44867	0.095506	0.02484	0	0.079893	0.02001	0	0.091713	0.02954	0	0.109499	0.03221	0	0.956633	0.63860	4.8	4.8	0.61157	3.286000	0.51430	7.182000	0.57752	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:1.0:0.0:0.0	13.736	0.62300	739	0.53257	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1430.43	33	chr19	48894997	.	C	T	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=423;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.684;SOR=0.54	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1442,0,1208	9	0	1	0
chr19	49859986	49859986	G	C	exonic	PTOV1	.	nonsynonymous SNV	PTOV1:NM_001305105:exon11:c.G1042C:p.A348P,PTOV1:NM_001364745:exon11:c.G946C:p.A316P,PTOV1:NM_001364747:exon11:c.G1087C:p.A363P,PTOV1:NM_001364748:exon11:c.G619C:p.A207P,PTOV1:NM_001364749:exon11:c.G1087C:p.A363P,PTOV1:NM_001364750:exon11:c.G619C:p.A207P,PTOV1:NM_017432:exon11:c.G1042C:p.A348P	.	.	.	.	.	.	.	.	0.9993	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.0911102946676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	0.996	0.68779	D	0.975	0.73362	D	0.000011	0.62929	D	0.064020	0.999989	0.81001	D	2.44	0.70756	M	.	.	.	-2.49	0.54217	N	0.857	0.85766	-0.2445	0.76508	T	0.403	0.75366	T	8	0.89464617	0.88815	D	0.09111	0.75645	D	0.600	0.84183	0.712	0.84781	0.30921473904	0.30521	0.7937781805285119	0.79330	0.294501942292	0.31871	0.649490118027	0.59913	T	0.167256	0.51381	T	0.266272	0.80104	D	0.144705	0.79848	D	0.966139554977417	0.67487	D	0.947205	0.82243	D	0.68079406	0.77012	0.69628984	0.82117	0.68079406	0.77014	0.69628984	0.82118	-9.527	0.71026	D	.	.	0.994	0.97084	P	.;.;.;.	.;.;.;.	5.215660	0.87525	29.3	0.99475926031139206	0.66579	0.98837	0.87508	D	AEFDGBHCI	0.978614	0.99775	D	0.625636144366496	0.74799	6.194697	0.539015490318265	0.70638	5.534505	0.999999999999781	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.28	4.28	0.50183	8.284000	0.89839	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.0:0.0:1.0:0.0	15.979	0.79881	594	0.68584	Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1980.43	48	chr19	49859986	.	G	C	1980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.759;DP=491;ExcessHet=0;FS=6.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=-0.474;SOR=1.284	GT:AD:DP:GQ:PL	0/1:40,73:113:99:1992,0,1032	9	0	1	0
chr19	49865193	49865193	G	T	exonic	PNKP	.	nonsynonymous SNV	PNKP:NM_007254:exon4:c.C432A:p.N144K	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	938796	Developmental_and_epileptic_encephalopathy,_12	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00586738889499	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367883177	4.104e-06	4.104e-06	8.167e-06	0	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	5.974e-05	2.236e-05	0	0	0	0.0003	0	0	1.159e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	6.536e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.536e-05	0	0	0	0	0	0	0	0.644	0.04943	T	0.238	0.24549	T	0.0	0.02946	B	0.001	0.04355	B	0.969078	0.08171	N	0.984266	1	0.08975	N	-0.205	0.04094	N	0.75	0.50192	T	-0.87	0.23590	N	0.144	0.14480	-1.0035	0.28903	T	0.038	0.16376	T	10	0.04579863	0.03692	T	0.005867	0.15281	T	0.042	0.11227	0.363	0.36874	0.267299060538	0.26338	0.1294158853234181	0.12866	0.102023578772	0.11547	0.329780101776	0.14901	T	0.015777	0.31019	T	-0.376447	0.03280	T	-0.695651	0.06066	T	0.0160742436267629	0.00386	T	0.794021	0.43594	T	0.123806685	0.29062	0.03893016	0.03872	0.123806685	0.29062	0.03893016	0.03872	-2.824	0.08406	T	0.054931591386298564	0.01192	0.101	0.25850	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.666120	0.10347	7.074	0.86835527237485932	0.16805	0.14102	0.18224	N	AEFDGBI	0.112369	0.22213	N	-1.09270090092415	0.06776	0.3129374	-1.01210911849659	0.09518	0.4740133	0.99999964420505	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	3.94	0.491	0.16076	-0.262000	0.08706	0.740000	0.21154	0.676000	0.76740	0.001000	0.13787	0.936000	0.28664	0.597000	0.31313	0.3634:0.0:0.6366:0.0	5.755	0.17438	594	0.68584	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1634.43	42	chr19	49865193	.	G	T	1634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=496;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-1.024;SOR=0.976	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1646,0,1842	9	0	1	0
chr19	50232065	50232065	T	C	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon9:c.T1085C:p.I362T,MYH14:NM_001077186:exon10:c.T1109C:p.I370T,MYH14:NM_001145809:exon10:c.T1109C:p.I370T	Deafness, autosomal dominant 4A, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.103539643622	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168584760	6.852e-07	1.368e-06	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.412	0.14456	T	0.683	0.42641	P	0.358	0.47360	B	.	.	.	.	0.919653	0.36640	D	2.255	0.64187	M	-0.7	0.72785	T	-1.84	0.43149	N	0.642	0.68603	-0.1655	0.78537	T	0.359	0.72085	T	9	0.24970132	0.42286	T	0.10354	0.77763	D	0.451	0.75143	0.494	0.58206	0.671364786094	0.66858	0.210533860866777	0.20969	0.659080485588	0.58788	0.723029613495	0.70489	T	0.451234	0.79204	T	-0.0121562	0.49962	T	-0.255238	0.49298	T	0.247574753885184	0.22764	T	0.954005	0.82493	D	0.24083985	0.46991	0.31997666	0.57955	0.24083985	0.46991	0.31997666	0.57954	-7.056	0.54442	T	0.18932274676848795	0.24762	0.260	0.52817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.446123	0.47959	22.5	0.95951909457013485	0.28275	0.87833	0.47510	D	AEFDBI	0.267899	0.38451	N	0.225818250265179	0.52453	3.419367	0.226912086162061	0.51347	3.317938	8.99114917103179E-4	0.07974	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.09	4.09	0.47038	0.145000	0.15978	2.178000	0.31107	0.605000	0.46263	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.0:1.0	11.328	0.48697	856	0.34373	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	.	.	.	.	.	.	.	.	0.05	594.43	35	chr19	50232065	.	T	C	594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.015;DP=409;ExcessHet=0;FS=0.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=0.633;SOR=0.54	GT:AD:DP:GQ:PL	0/1:46,30:76:99:606,0,1070	9	0	1	0
chr19	50454099	50454099	G	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon17:c.G1829A:p.R610Q	.	.	.	.	.	.	.	.	.	.	.	3983098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0633557330806	7.9e-05	.	3.166e-05	0.0003	0	0	0	1.85e-05	0	0	1.94e-05	3	154602	rs373805656	1.918e-05	1.915e-05	2.044e-05	1.79e-05	0.0004	1.33e-05	1.145e-05	0.0002	0.0002	0.0004	2.247e-05	0	0	0	0	7.199e-06	4.974e-05	4.658e-05	6.574e-05	6.563e-05	9.001e-05	4.036e-05	0.0002	3.518e-05	2.617e-05	0.0001	9.929e-05	0.0002	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.067	0.44302	T	0.959	0.55135	D	0.477	0.46994	P	0.007641	0.31286	U	0.000000	0.83435	0.28717	N	2.68	0.78455	M	0.93	0.44065	T	-2.5	0.54382	D	0.488	0.52208	-0.7461	0.58138	T	0.163	0.49864	T	10	0.4824118	0.60510	T	0.063356	0.68941	D	0.203	0.48915	.	.	0.751577878647	0.74933	0.6312417867829081	0.63058	0.311374362248	0.33442	0.391689360142	0.23907	T	0.03862	0.24903	T	-0.335907	0.05677	T	-0.440848	0.28714	T	0.311428040266037	0.25473	T	0.882412	0.60266	D	0.2735399	0.50421	0.29413718	0.55443	0.2735399	0.50421	0.29413718	0.55442	-8.556	0.64798	D	.	.	0.532	0.66016	A	.	.	4.104838	0.61238	24.3	0.99263808892670247	0.57322	0.74455	0.36424	D	AEFDBHCI	0.267914	0.38451	N	0.0376727160788656	0.43577	2.647852	-0.141101458644722	0.33752	1.934052	0.899800700585154	0.26060	0.696267	0.57585	0	0.69481	0.67340	0	0.691665	0.62940	0	0.542086	0.14980	0	.	.	2.93	2.93	0.33092	3.037000	0.49465	3.297000	0.37352	0.652000	0.53365	0.984000	0.35821	0.461000	0.25002	0.005000	0.06747	0.0:0.0:1.0:0.0	13.109	0.58677	867	0.32089	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1097.43	36	chr19	50454099	.	G	A	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.826;DP=430;ExcessHet=0;FS=2.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.469;SOR=0.945	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1109,0,1379	9	0	1	0
chr19	50455606	50455606	G	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon20:c.G2300A:p.G767D	.	.	.	.	.	.	.	.	.	.	.	3983108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0629672730287	.	.	1.659e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763763191	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0004	8.94e-06	7.26e-06	0.0002	0.0002	0.0004	2.236e-05	0	0	0	0	8.994e-07	4.969e-05	3.478e-05	6.565e-05	6.561e-05	8.992e-05	4.028e-05	0.0002	3.514e-05	2.614e-05	0.0001	9.911e-05	0.0002	0	0	0	0	0	0	0	0	0	0.031	0.45039	D	0.056	0.46632	T	0.936	0.52359	P	0.734	0.55432	P	0.076721	0.21147	U	0.193771	0.99999	0.58761	D	1.535	0.38868	L	0.52	0.55266	T	-5.11	0.83092	D	0.879	0.87699	-0.7922	0.55601	T	0.196	0.55100	T	10	0.8395362	0.83107	D	0.062967	0.68819	D	0.458	0.75619	0.644	0.78117	0.830896529316	0.82929	0.7854859934395343	0.78499	0.702873162905	0.61236	0.760173380375	0.75955	T	0.028379	0.20569	T	0.0485881	0.58161	T	0.111452	0.77669	D	0.65466570854187	0.38663	D	0.951105	0.81346	D	0.5755206	0.71363	0.5964312	0.76567	0.5755206	0.71364	0.5964312	0.76568	-10.019	0.74026	D	.	.	0.373	0.58029	A	.	.	4.383623	0.67590	25.1	0.99827997265905088	0.91026	0.98743	0.86283	D	AEFBI	0.903508	0.85269	D	0.517594575613437	0.68132	5.17509	0.53887850610493	0.70627	5.53312	0.999845085308175	0.43971	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	9.406000	0.96653	11.653000	0.93904	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	16.109	0.81055	862	0.33134	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1147.43	33	chr19	50455606	.	G	A	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.424;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.924;SOR=0.73	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1159,0,1174	9	0	1	0
chr19	51034590	51034590	A	G	exonic	KLK12	.	nonsynonymous SNV	KLK12:NM_001370125:exon2:c.T32C:p.V11A,KLK12:NM_019598:exon2:c.T32C:p.V11A,KLK12:NM_145894:exon2:c.T32C:p.V11A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0233649334957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	0.14793	T	0.58	0.19599	T	0.0	0.07471	B	0.002	0.12133	B	0.371735	0.04366	N	1.625630	1	0.08975	N	0	0.06538	N	-2.98	0.92057	D	-0.24	0.11913	N	0.06	0.04547	-0.5341	0.67386	T	0.479	0.80047	T	10	0.05334899	0.05511	T	0.023365	0.46327	T	0.242	0.54781	0.448	0.50793	0.575279034457	0.57196	0.4476983547442164	0.44687	0.195611412408	0.21904	0.331084519625	0.15098	T	0.017607	0.14333	T	-0.0868079	0.38602	T	-0.36247	0.37765	T	0.0322044864296913	0.02339	T	0.286971	0.06521	T	0.02575076	0.01548	0.03170942	0.01799	0.02575076	0.01548	0.03170942	0.01799	-3.751	0.21343	T	.	.	0.105	0.20702	B	.;.;.;.	.;.;.;.	1.345173	0.17522	13.21	0.91471755035038849	0.20744	0.04922	0.10676	N	AEFDBI	0.069678	0.13801	N	-0.989057021020255	0.08837	0.4158926	-0.967241554922437	0.10526	0.5306858	1.32911820858569E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.11	-0.889	0.10044	0.522000	0.22617	2.194000	0.31231	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.993000	0.69303	0.5957:0.1678:0.2365:0.0	4.404	0.10831	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	523.43	34	chr19	51034590	.	A	G	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=400;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.67;SOR=1.436	GT:AD:DP:GQ:PL	0/1:31,22:53:99:535,0,759	9	0	1	0
chr19	51483197	51483197	G	A	exonic	CEACAM18	.	nonsynonymous SNV	CEACAM18:NM_001278392:exon4:c.G854A:p.S285N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0040	0.00399361	0.0038	0.0010	0.0029	0	0.0002	0.0055	0.0022	0.0028	0.0040232	622	154602	rs185908180	0.0061	0.0061	0.0063	0.0059	0.0073	0.0060	0.0060	0.0071	0.0071	0.0010	0.0040	0.0001	5.038e-05	0.0008	0.0049	0.0073	0.0052	0.0028	0.0043	0.0043	0.0044	0.0042	0.0067	0.0040	0.0039	0.0062	0.0060	0.0013	0.0121	0.0062	0.0006	0.0002	0.0002	0.0034	0.0067	0.0071	0.0033	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.32	0.33002	L	.	.	.	0.9	0.01618	N	0.14	0.13911	-1.0060	0.28156	T	0.054	0.23034	T	9	0.0060718954	0.00136	T	.	.	.	0.016	0.02506	.	.	0.0884992946249	0.08302	0.12791582031036441	0.12716	.	.	0.521655142307	0.41859	T	6.73E-4	0.00299	T	-0.644282	0.00078	T	-0.691846	0.06283	T	0.0116658611041585	0.00178	T	0.306369	0.05889	T	0.038369063	0.05099	0.077239774	0.17185	0.038369063	0.05098	0.077239774	0.17185	-4.063	0.24743	T	.	.	0.153	0.33891	B	.	.	0.341903	0.07154	3.737	0.19025385960722976	0.00624	0.00697	0.02968	N	AEFDBI	0.045155	0.07351	N	-0.908399482289071	0.10645	0.509661	-0.999886000534558	0.09788	0.4890248	8.37199790890469E-5	0.04703	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.76	0.353	0.15294	0.404000	0.20722	.	.	0.561000	0.28422	0.233000	0.24675	0.000000	0.08366	0.003000	0.05239	0.1691:0.0:0.5687:0.2622	2.910	0.05383	964	0.07719	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.002717	0.008772	0.000000	0.008621	0.006098	0.022727	0.05	1094.43	34	chr19	51483197	.	G	A	1094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.245;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.19;SOR=0.701	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1106,0,1587	9	0	1	0
chr19	52384822	52384822	-	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1242_1243insATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415Mfs*11	.	493	994	8	0	27	35	0.00400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0006	0	0.0002	0	0.0001	3.84e-05	1	26028	rs773157264	0.0013	0.0029	0.0013	0.0014	0.0027	0.0013	0.0012	0.0020	0.0019	0.0016	0.0014	0.0030	0.0025	0.0026	0.0027	0.0012	0.0024	0.0006	0.0056	0.0093	0.0068	0.0044	0.0079	0.0052	0.0050	0.0059	0.0056	0.0046	0.0065	0.0058	0.0047	0.0036	0.0043	0.0104	0.0066	0.0044	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	464.48	71	chr19	52384822	.	C	CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	464.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=553;ExcessHet=0;FS=14.227;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=56.75;MQRankSum=-3.166;QD=12.55;ReadPosRankSum=-0.764;SOR=3.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,13:37:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:474,0,965:52384817	6	0	1	3
chr19	52416068	52416068	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1216A:p.E406K	.	421	1099	2	0	0	2	0.000909091	.	.	.	716664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0111	0.00978435	0.0031	0.0336	0.0021	0	0	0.0001	0.0056	0	0.0029689	459	154602	rs61997201	0.0010	0.0010	0.0011	0.0009	0.0322	0.0009	0.0009	0.0306	0.0299	0.0322	0.0026	0	0	0	0.0043	4.946e-05	0.0020	0.0001	0.0092	0.0092	0.0094	0.0090	0.0318	0.0088	0.0086	0.0303	0.0298	0.0318	0.0088	0.0039	0	0	0	0.0034	4.41e-05	0.0057	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.66	0.42513	L	1.86	0.24285	T	-3.36	0.66549	D	0.136	0.13341	-1.0319	0.19841	T	0.031	0.13286	T	9	0.004878819	0.00104	T	.	.	.	0.203	0.48915	.	.	0.511907979761	0.50829	0.013010611711278805	0.01259	0.0590495618008	0.06558	0.347129583359	0.17499	T	0.115285	0.43376	T	-0.55737	0.00263	T	-0.547638	0.17553	T	0.0241147925947462	0.01159	T	0.540346	0.18307	T	0.2723458	0.50304	0.3510622	0.60706	0.2723458	0.50304	0.3510622	0.60706	-7.11	0.54832	T	.	.	0.475	0.63409	A	.	.	2.636881	0.34303	19.59	0.99767413990791265	0.85583	0.51027	0.28800	D	AEFBCI	0.318172	0.42195	N	0.052805968092687	0.44271	2.704252	-0.157686899341948	0.33113	1.89083	0.781812715402645	0.23857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.615788	0.45269	1	.	.	2.08	2.08	0.26079	3.073000	0.49755	.	.	0.564000	0.28548	0.908000	0.31627	0.000000	0.08366	0.128000	0.19490	0.0:0.0:1.0:0.0	11.173	0.47808	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.015152	0.014946	0.014620	0.000000	0.008621	0.000000	0.003788	0.05	1121.43	34	chr19	52416068	.	G	A	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=517;ExcessHet=0;FS=3.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.279;SOR=0.909	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1133,0,1197	9	0	1	0
chr19	52613160	52613160	G	A	exonic	ZNF83	.	nonsynonymous SNV	ZNF83:NM_001277951:exon3:c.C1405T:p.R469C,ZNF83:NM_018300:exon3:c.C1405T:p.R469C,ZNF83:NM_001105552:exon4:c.C1405T:p.R469C,ZNF83:NM_001277946:exon4:c.C1405T:p.R469C,ZNF83:NM_001348016:exon4:c.C1405T:p.R469C,ZNF83:NM_001105550:exon5:c.C1405T:p.R469C,ZNF83:NM_001105551:exon5:c.C1405T:p.R469C,ZNF83:NM_001277948:exon5:c.C1405T:p.R469C,ZNF83:NM_001277949:exon5:c.C1405T:p.R469C,ZNF83:NM_001277952:exon5:c.C1405T:p.R469C,ZNF83:NM_001105549:exon6:c.C1405T:p.R469C,ZNF83:NM_001277945:exon6:c.C1405T:p.R469C,ZNF83:NM_001277947:exon6:c.C1405T:p.R469C,ZNF83:NM_001348018:exon6:c.C1405T:p.R469C,ZNF83:NM_001348015:exon7:c.C1405T:p.R469C,ZNF83:NM_001348017:exon7:c.C1405T:p.R469C,ZNF83:NM_001348019:exon7:c.C1405T:p.R469C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056669528179	.	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs571856338	1.095e-05	1.094e-05	1.361e-05	8.252e-06	5.975e-05	6.48e-06	5.24e-06	9.9e-06	3.7e-06	5.975e-05	2.238e-05	0	0	0	0	8.994e-06	4.968e-05	0	5.296e-05	5.269e-05	5.178e-05	5.42e-05	0.0002	2.574e-05	1.842e-05	9.629e-05	7.008e-05	0.0002	0	0	0	0	0	0	0	0	0	0.314	0.13834	T	0.166	0.30828	T	0.998	0.73220	D	0.588	0.50402	P	.	.	.	.	1	0.08975	N	1.035	0.25616	L	1.55	0.29866	T	-1.89	0.44094	N	0.07	0.08227	-1.0740	0.08556	T	0.075	0.30055	T	9	0.07459533	0.11421	T	0.005667	0.14681	T	0.020	0.03691	.	.	0.0920862733494	0.08535	0.023818780567737338	0.02332	0.127965630687	0.14428	.	.	.	0.026187	0.19430	T	-0.516844	0.00459	T	-0.700752	0.05784	T	0.0278044023908634	0.01659	T	0.20228	0.02325	T	0.0379109	0.04951	0.031820226	0.01825	0.0379109	0.04951	0.031820226	0.01825	-6.024	0.46480	T	.	.	0.265	0.49922	B	.;.;.;.;.	.;.;.;.;.	0.498641	0.08677	5.449	0.97401092545364965	0.33775	0.01896	0.05817	N	AEFGBCI	0.040358	0.05992	N	-1.17492210835473	0.05381	0.2451717	-1.42300022151343	0.03023	0.1402449	0.00145537947931807	0.08551	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	1.97	-3.94	0.03856	-1.842000	0.01775	.	.	-5.762000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2474:0.0:0.17:0.5826	4.097	0.09470	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2039.43	36	chr19	52613160	.	G	A	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.582;DP=509;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.525;SOR=0.516	GT:AD:DP:GQ:PL	0/1:96,83:179:99:2051,0,2545	9	0	1	0
chr19	52706036	52706036	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1019G:p.E340G,ZNF611:NM_001161501:exon5:c.A812G:p.E271G,ZNF611:NM_001161499:exon6:c.A1019G:p.E340G,ZNF611:NM_030972:exon7:c.A1019G:p.E340G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0057	0.00539137	0.0017	0.0187	0.0006	0	0	2.999e-05	0	0	0.0015977	247	154602	rs4087790	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0160	0.0176	0.0011	0	0	0	0.0009	1.799e-05	0.0010	1.159e-05	0.0049	0.0049	0.0051	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0024	0	0	0	0	2.94e-05	0.0033	0	0.0	0.91255	D	0.017	0.60337	D	0.752	0.43309	P	0.561	0.49582	P	.	.	.	.	0.995968	0.23152	N	2.395	0.69210	M	2.08	0.20255	T	-5.56	0.86296	D	0.132	0.13484	-1.0485	0.14818	T	0.046	0.19800	T	9	0.003975421	0.00077	T	.	.	.	0.060	0.17295	.	.	0.501060295512	0.49743	0.014385139974164988	0.01395	0.134211828644	0.15117	0.253722727299	0.04170	T	0.036139	0.23989	T	-0.524525	0.00414	T	-0.511284	0.21183	T	0.139155205949128	0.16202	T	0.10049	0.00746	T	0.1753298	0.38386	0.22448131	0.47361	0.1753298	0.38386	0.22448131	0.47360	-6.898	0.53284	T	.	.	0.113	0.22282	B	.;.;.;.;.;.	.;.;.;.;.;.	2.162928	0.27555	17.50	0.97220792762563935	0.32901	0.24888	0.22532	N	AEFBCI	0.249267	0.36953	N	-0.323688471262654	0.28251	1.556671	-0.587952893062773	0.19806	1.064351	0.0026259405185001	0.09584	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.53	1.53	0.22224	3.105000	0.50005	.	.	0.361000	0.20101	0.164000	0.23853	0.000000	0.08366	0.002000	0.04165	0.2686:0.0:0.0:0.7314	4.946	0.13341	923	0.18507	.;Zinc finger C2H2-type;Zinc finger C2H2-type;.;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2543.43	33	chr19	52706036	.	T	C	2543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=516;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.8;SOR=0.801	GT:AD:DP:GQ:PL	0/1:104,97:201:99:2555,0,2754	9	0	1	0
chr19	52906302	52906302	A	T	exonic	ZNF888	.	nonsynonymous SNV	ZNF888:NM_001384656:exon3:c.T1912A:p.Y638N,ZNF888:NM_001310127:exon4:c.T2020A:p.Y674N,ZNF888:NM_001384652:exon5:c.T2077A:p.Y693N,ZNF888:NM_001384653:exon5:c.T2020A:p.Y674N,ZNF888:NM_001384655:exon5:c.T1912A:p.Y638N,ZNF888:NM_001384654:exon6:c.T1912A:p.Y638N	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377511797	1.232e-05	1.231e-05	1.635e-05	8.257e-06	0.0002	7.7e-06	6.36e-06	9.757e-05	6.955e-05	0.0002	0	0	0	0	0.0002	0	0.0001	2.325e-05	2.651e-05	2.634e-05	1.296e-05	4.069e-05	7.299e-05	8.19e-06	5.18e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08752164	0.14981	T	.	.	.	.	.	.	.	.	.	0.00316250429346427	0.00295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285671	0.05095	T	0.039784748	0.05556	0.06783965	0.14089	0.039784748	0.05556	0.06783965	0.14088	-0.402	0.00527	T	.	.	0.248	0.48261	B	.	.	-0.753600	0.01202	0.059	0.58321992640919562	0.05967	0.00097	0.00633	N	AEFBI	.	.	.	.	.	.	.	.	.	3.70800120584567E-5	0.03775	0.156188	0.03335	0	0.156173	0.03658	0	0.231514	0.04749	0	0.117559	0.03655	0	0.0492226	0.08869	1.71	-3.41	0.04535	-0.982000	0.03873	.	.	-1.538000	0.00984	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1803:0.1318:0.3503:0.3375	1.030	0.01441	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1887.43	35	chr19	52906302	.	A	T	1887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=737;ExcessHet=0;FS=13.455;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.065;SOR=1.076	GT:AD:DP:GQ:PL	0/1:95,76:171:99:1899,0,2471	9	0	1	0
chr19	53165697	53165697	T	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.A793G:p.N265D,ZNF665:NM_024733:exon4:c.A793G:p.N265D,ZNF665:NM_001353457:exon5:c.A787G:p.N263D,ZNF665:NM_001353458:exon5:c.A877G:p.N293D	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0070	0.00539137	0.0018	0.0209	8.637e-05	0	0	2.997e-05	0	0.0001	0.0017141	265	154602	rs79224520	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0008	0	0	0	0.0005	2.338e-05	0.0010	2.319e-05	0.0050	0.0050	0.0053	0.0047	0.0175	0.0047	0.0046	0.0164	0.0160	0.0175	0	0.0021	0	0	0	0	4.41e-05	0.0024	0	0.24	0.17701	T	0.164	0.31026	T	0.004	0.12183	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.495	0.02627	N	2.38	0.15843	T	-2.56	0.55339	D	0.059	0.05287	-0.9744	0.36257	T	0.009	0.03140	T	9	0.0029756725	0.00048	T	.	.	.	0.039	0.10176	.	.	0.128392430309	0.12331	0.015205824773005841	0.01476	0.0318536855555	0.03304	0.280150294304	0.07513	T	0.049407	0.28298	T	-0.7782	0.00011	T	-0.875011	0.00697	T	0.00729956563191857	0.00084	T	0.0719928	0.00526	T	0.28612664	0.51631	0.23860982	0.49188	0.28612664	0.51630	0.23860982	0.49187	.	.	.	.	.	0.115	0.25166	B	.;.	.;.	1.154671	0.15429	11.84	0.95898492381716982	0.28123	0.00353	0.01817	N	AEFDBHCI	0.071163	0.14156	N	-1.08309207512457	0.06954	0.3216486	-1.0943778836598	0.07810	0.3813942	1.06917366472756E-5	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.31	1.24	0.20416	-2.265000	0.01254	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.216000	0.22352	0.2114:0.1431:0.2154:0.4301	0.427	0.00433	994	0.00715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001058	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1362.43	119	chr19	53165697	.	T	C	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=1037;ExcessHet=0;FS=1.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-2.149;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,37:72:99:0|1:53165686_G_T:1374,0,1358:53165686	9	0	1	0
chr19	53259064	53259064	A	-	exonic	VN1R2	.	frameshift deletion	VN1R2:NM_173856:exon1:c.689delA:p.Y230Lfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1938.39	39	chr19	53259063	.	TA	T	1938.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.556;DP=469;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.561;SOR=0.515	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1950,0,2278	9	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	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	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.1	1041.14	44	chr19	53267316	.	G	C	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.954;DP=817;ExcessHet=0.2348;FS=2.179;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=50.6;MQRankSum=-9.454;QD=2.36;ReadPosRankSum=3.25;SOR=0.573	GT:AD:DP:GQ:PL	0/1:177,32:209:99:164,0,4827	8	0	2	0
chr19	53998287	53998287	G	A	exonic	CACNG6	.	nonsynonymous SNV	CACNG6:NM_145814:exon2:c.G380A:p.R127H,CACNG6:NM_145815:exon2:c.G380A:p.R127H	.	.	.	.	.	.	.	.	.	.	.	2215440	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00540006137836	7.7e-05	.	7.44e-05	0	0.0005	0	0	4.511e-05	0	0	7.76e-05	12	154602	rs113933127	3.421e-05	3.42e-05	3.812e-05	3.025e-05	0.0003	2.631e-05	2.375e-05	0.0001	0.0001	0.0003	0.0002	0	0	0	0	2.698e-05	0	1.159e-05	5.256e-05	5.25e-05	5.142e-05	5.375e-05	0.0001	2.557e-05	1.83e-05	4.732e-05	3.049e-05	0.0001	0	6.544e-05	0	0	0	0	2.941e-05	0	0	0.166	0.23183	T	0.528	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	0.297160	0.14663	N	0.633990	1	0.20103	N	1.735	0.44892	L	1.52	0.30669	T	0.47	0.03352	N	0.118	0.20793	-1.0821	0.06946	T	0.035	0.14900	T	10	0.024690866	0.00688	T	0.005	0.13862	T	0.024	0.04979	.	.	0.17258766438	0.16869	0.3994814461888703	0.39863	0.609390119141	0.55673	0.217751145363	0.01184	T	0.021242	0.16575	T	-0.53176	0.00375	T	-0.704054	0.05606	T	0.0226135645061731	0.00978	T	0.748825	0.40277	T	0.026247876	0.01658	0.04861786	0.07258	0.026247876	0.01657	0.04861786	0.07257	-5.128	0.38201	T	.	.	0.067	0.04159	B	.;.	.;.	-0.413192	0.02164	0.211	0.87930942361653985	0.17589	0.00916	0.03571	N	AEFDBI	0.033651	0.04033	N	-1.5302080840591	0.01654	0.072346	-1.54871263411618	0.01985	0.09066822	0.99816564220091	0.36515	0.615465	0.37627	0	0.547309	0.14657	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.36	-6.34	0.01808	-1.156000	0.03270	.	.	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.238000	0.22948	0.2834:0.0:0.7166:0.0	16.540	0.84230	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	737.43	36	chr19	53998287	.	G	A	737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.669;DP=393;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.177;SOR=0.571	GT:AD:DP:GQ:PL	0/1:42,37:79:99:749,0,977	9	0	1	0
chr19	54172000	54172002	CCC	-	exonic	TMC4	.	nonframeshift deletion	TMC4:NM_001145303:exon2:c.179_181del:p.G60del,TMC4:NM_144686:exon2:c.161_163del:p.54_55del	.	398	1114	8	1	1	11	0.00446828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0182	0.0227636	0.0136	0.0034	0.0363	0.0970	0.0269	0.0019	0.0133	0.0018	0.0046104	120	26028	rs140898828	0.0052	0.0053	0.0055	0.0049	0.0968	0.0051	0.0051	0.0942	0.0932	0.0029	0.0324	0.0027	0.0968	0.0262	0.0003	0.0003	0.0054	0.0016	0.0086	0.0087	0.0066	0.0108	0.0849	0.0082	0.0081	0.0783	0.0757	0.0031	0	0.0221	0.0017	0.0849	0.0284	0	0.0009	0.0095	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	1125.39	37	chr19	54171999	.	GCCC	G	1125.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.895;SOR=0.648	GT:AD:DP:GQ:PL	0/1:33,30:63:99:1137,0,1295	9	0	1	0
chr19	54274798	54274798	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1334T:p.T445I,LILRB2:NM_001080978:exon14:c.C1679T:p.T560I,LILRB2:NM_001278403:exon14:c.C1679T:p.T560I,LILRB2:NM_005874:exon14:c.C1682T:p.T561I	.	10	1511	1	0	0	1	0.000330797	.	.	.	2193765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00471035166838	0.0005	0.000199681	9.885e-05	0.0011	8.637e-05	0	0	0	0	0	9.7e-05	15	154602	rs111579555	5.473e-05	5.472e-05	6.534e-05	4.4e-05	0.0013	4.477e-05	4.147e-05	0.0010	0.0008	0.0013	2.236e-05	0	0	0	0	0	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0.0005	0	0.064	0.38185	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.28	0.00561	T	-3.05	0.65171	D	0.285	0.39254	-0.9821	0.34515	T	0.003	0.01026	T	9	0.056836396	0.06434	T	0.00471	0.11722	T	0.138	0.37187	.	.	0.339316883193	0.33537	0.2502560241872246	0.24939	0.0541991921509	0.05990	0.576643645763	0.49613	T	.	.	.	-0.471694	0.00829	T	-0.50668	0.21657	T	0.0550931821369486	0.06373	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50481	B	.;.;.;.	.;.;.;.	2.334774	0.29912	18.27	0.9711247467198364	0.32417	0.49752	0.28505	N	AEFBI	0.173827	0.30092	N	-0.33866266530532	0.27691	1.521322	-0.391209350245484	0.25258	1.387943	0.226338654326415	0.18414	0.615755	0.39536	0	0.610034	0.51514	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	1.31	0.20837	3.334000	0.51814	.	.	0.601000	0.45875	0.321000	0.25511	0.290000	0.24159	0.255000	0.23391	0.0:0.0:1.0:0.0	6.172	0.19638	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	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1273.43	34	chr19	54274798	.	G	A	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.985;DP=425;ExcessHet=0;FS=9.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.29;MQRankSum=-0.355;QD=12.36;ReadPosRankSum=-0.974;SOR=1.504	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1285,0,1385	9	0	1	0
chr19	54277919	54277919	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon7:c.C931T:p.P311S,LILRB2:NM_001278405:exon7:c.C1279T:p.P427S,LILRB2:NM_001278406:exon7:c.C1279T:p.P427S,LILRB2:NM_001080978:exon8:c.C1279T:p.P427S,LILRB2:NM_001278403:exon8:c.C1279T:p.P427S,LILRB2:NM_005874:exon8:c.C1279T:p.P427S	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00239617	0.0015	0.0101	0	0	0	0.0001	0	0	0.0004075	63	154602	rs148321423	0.0003	0.0003	0.0003	0.0002	0.0063	0.0002	0.0002	0.0055	0.0053	0.0063	0.0005	0	0	0.0002	0.0005	8.942e-05	0.0009	2.57e-05	0.0019	0.0019	0.0018	0.0019	0.0063	0.0017	0.0016	0.0056	0.0054	0.0063	0	0.0006	0	0	9.407e-05	0	0.0001	0.0014	0	0.498	0.07797	T	0.193	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.09	0.00460	T	-1.52	0.38924	N	0.175	0.19459	-0.9670	0.37814	T	0.001	0.00222	T	9	0.0036373734	0.00066	T	.	.	.	0.015	0.02232	.	.	0.104622674875	0.10061	0.10683828809185875	0.10613	0.0456341534263	0.04953	0.264221608639	0.05404	T	.	.	.	-0.660261	0.00063	T	-0.715646	0.05009	T	0.00258418771117385	0.00027	T	0.540746	0.18332	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	-0.697642	0.01326	0.073	0.50950757218013176	0.04475	0.00200	0.01150	N	AEFDBI	0.039096	0.05631	N	-2.22959982801494	0.00066	0.002815392	-2.30280245182774	0.00065	0.002872331	0.999971029731205	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.33	-4.66	0.03090	-1.340000	0.02756	.	.	-2.803000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6203:0.0:0.2089:0.1708	4.700	0.12206	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	0.000562	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	313.43	35	chr19	54277919	.	G	A	313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=355;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.166;SOR=0.615	GT:AD:DP:GQ:PL	0/1:28,15:43:99:325,0,727	9	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/1:207,38:245:99:344,0,6198	3	0	6	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/1:321,54:375:99:333,0,8913	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	0/1:447,52:499:99:629,0,11979	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:466,48:514:99:0|1:54752445_C_T:572,0,19178:54752445	5	2	3	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,30:419:89:0|1:54760643_A_G:89,0,15939:54760643	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,30:421:83:0|1:54760643_A_G:83,0,16290:54760643	5	0	5	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5155.45	40	chr19	54760659	.	G	A	5155.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.195;DP=2068;ExcessHet=0.7463;FS=1.6;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=53.42;MQRankSum=-9.151;QD=4.06;ReadPosRankSum=1.15;SOR=0.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,32:420:99:0|1:54760643_A_G:176,0,16194:54760643	7	0	3	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,32:410:99:0|1:54760643_A_G:206,0,15776:54760643	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,32:401:99:0|1:54760643_A_G:233,0,15398:54760643	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,32:374:99:0|1:54760643_A_G:314,0,14251:54760643	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,32:366:99:0|1:54760643_A_G:338,0,13895:54760643	5	0	5	0
chr19	54766500	54766500	C	G	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon6:c.C739G:p.L247V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866597056	1.797e-05	1.813e-05	2.005e-05	1.587e-05	0.0022	1.234e-05	1.043e-05	0.0012	0.0010	0	0	0	0	0	0.0022	8.536e-06	3.475e-05	2.41e-05	6.88e-06	6.707e-06	0	1.414e-05	0.0002	0	0	.	.	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.05	6043.13	34	chr19	54766500	.	C	G	6043.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=907;ExcessHet=0.2348;FS=1.753;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.985;QD=12.67;ReadPosRankSum=-0.347;SOR=0.553	GT:AD:DP:GQ:PL	0/1:174,83:257:99:1691,0,4462	9	0	1	0
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs,KIR2DL1:NM_014218:exon4:c.488delA:p.E163fs,KIR2DS1:NM_014512:exon4:c.488delA:p.E165Rfs*83,KIR2DS5:NM_014513:exon4:c.488delA:p.E163fs	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	279.1	41	chr19	54775281	.	GA	G	279.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.06;DP=2697;ExcessHet=0.2348;FS=12.427;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=58.58;MQRankSum=-13.8;QD=0.27;ReadPosRankSum=2.45;SOR=2.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,32:389:99:0|1:54775281_GA_G:269,0,14689:54775281	8	0	2	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs,KIR2DL1:NM_014218:exon4:c.495dupG:p.E165fs,KIR2DS1:NM_014512:exon4:c.495dupG:p.A166Gfs*3,KIR2DS5:NM_014513:exon4:c.495dupG:p.E165fs	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	374.39	41	chr19	54775288	.	A	AG	374.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.269;DP=2651;ExcessHet=0;FS=14.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=-14.24;QD=0.95;ReadPosRankSum=-2.018;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,35:395:99:0|1:54775281_GA_G:386,0,14815:54775281	9	0	1	0
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P,KIR2DL1:NM_014218:exon4:c.G506C:p.R169P,KIR2DS1:NM_014512:exon4:c.G506C:p.R169P,KIR2DS5:NM_014513:exon4:c.G506C:p.R169P	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	302.43	41	chr19	54775300	.	G	C	302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.14;DP=2650;ExcessHet=0;FS=11.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-13.94;QD=0.78;ReadPosRankSum=0.385;SOR=1.615	GT:AD:DP:GQ:PL	0/1:357,33:390:99:314,0,11033	9	0	1	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R,KIR2DL1:NM_014218:exon4:c.A527G:p.K176R,KIR2DS1:NM_014512:exon4:c.A527G:p.K176R,KIR2DS5:NM_014513:exon4:c.A527G:p.K176R	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.042793	0.134409	0.005698	0.065789	0.111111	0.035714	0.053333	0.028455	0.05	326.58	41	chr19	54775321	.	A	G	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.25;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,35:411:99:0|1:54775315_G_T:338,0,15679:54775315	9	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N,KIR2DL1:NM_014218:exon4:c.G528C:p.K176N,KIR2DS1:NM_014512:exon4:c.G528C:p.K176N,KIR2DS5:NM_014513:exon4:c.G528C:p.K176N	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038851	0.123656	0.004261	0.061404	0.111111	0.027273	0.050000	0.028455	0.05	326.58	41	chr19	54775322	.	G	C	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.42;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,35:411:99:0|1:54775315_G_T:338,0,15683:54775315	9	0	1	0
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D,KIR2DL1:NM_014218:exon4:c.A532G:p.N178D,KIR2DS1:NM_014512:exon4:c.A532G:p.N178D,KIR2DS5:NM_014513:exon4:c.A532G:p.N178D	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	383.43	41	chr19	54775326	.	A	G	383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.432;DP=2961;ExcessHet=0;FS=4.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-12.07;QD=0.94;ReadPosRankSum=3.33;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,36:407:99:0|1:54775315_G_T:395,0,15440:54775315	9	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T,KIR2DL1:NM_014218:exon4:c.G590C:p.R197T,KIR2DS1:NM_014512:exon4:c.G590C:p.R197T,KIR2DS5:NM_014513:exon4:c.G590C:p.R197T	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	500.43	41	chr19	54775384	.	G	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=2892;ExcessHet=0;FS=5.147;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.05;MQRankSum=-11.61;QD=1.27;ReadPosRankSum=-1.026;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,38:395:99:0|1:54775384_G_C:512,0,14578:54775384	9	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S,KIR2DL1:NM_014218:exon4:c.G598A:p.G200S,KIR2DS1:NM_014512:exon4:c.G598A:p.G200S,KIR2DS5:NM_014513:exon4:c.G598A:p.G200S	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001615	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	443.43	41	chr19	54775392	.	G	A	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=2891;ExcessHet=0;FS=4.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.97;MQRankSum=-11.61;QD=1.1;ReadPosRankSum=-1.987;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,37:402:99:0|1:54775384_G_C:455,0,15112:54775384	9	0	1	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L,KIR2DL1:NM_014218:exon4:c.T604C:p.F202L,KIR2DS1:NM_014512:exon4:c.T604C:p.F202L,KIR2DS5:NM_014513:exon4:c.T604C:p.F202L	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	383.43	41	chr19	54775398	.	T	C	383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.686;DP=2877;ExcessHet=0;FS=8.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.88;MQRankSum=-11.13;QD=0.99;ReadPosRankSum=-1.904;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,35:387:99:0|1:54775384_G_C:395,0,14598:54775384	9	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1393.14	41	chr19	54775425	.	A	G	1393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.98;DP=2563;ExcessHet=0.2348;FS=6.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.24;MQRankSum=-9.538;QD=1.25;ReadPosRankSum=0.357;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,26:367:65:0|1:54775409_T_A:65,0,14240:54775409	8	0	2	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6712.57	34	chr19	54805015	.	T	C	6712.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.265;DP=1562;ExcessHet=1.5895;FS=8.159;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.78;QD=5.8;ReadPosRankSum=1.44;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,22:242:99:0|1:54805010_A_G:262,0,9111:54805010	6	0	4	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6847.57	34	chr19	54805016	.	T	A	6847.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.245;DP=1562;ExcessHet=1.5895;FS=8.174;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.71;QD=5.92;ReadPosRankSum=1.08;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,22:245:99:0|1:54805010_A_G:253,0,9237:54805010	6	0	4	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	7942.57	34	chr19	54805024	.	A	G	7942.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.474;DP=1576;ExcessHet=1.5895;FS=9.137;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.61;MQRankSum=-11.4;QD=6.79;ReadPosRankSum=1.21;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,24:242:99:0|1:54805010_A_G:352,0,8934:54805010	6	0	4	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,27:241:99:0|1:54805010_A_G:451,0,8670:54805010	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/1:167,29:196:99:331,0,4501	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,34:201:99:0|1:54805940_TCTC_T:925,0,6910:54805940	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,35:203:99:0|1:54805940_TCTC_T:964,0,6949:54805940	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,38:232:99:0|1:54805940_TCTC_T:1012,0,8000:54805940	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,44:250:99:0|1:54805940_TCTC_T:1207,0,8398:54805940	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,75:376:99:0|1:54806034_C_A:2234,0,12332:54806034	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,75:378:99:0|1:54806034_C_A:2228,0,12416:54806034	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,68:386:99:0|1:54806034_C_A:1898,0,13148:54806034	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,67:401:99:0|1:54806034_C_A:1808,0,13823:54806034	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,68:397:99:0|1:54806034_C_A:1865,0,13610:54806034	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,68:403:99:0|1:54806034_C_A:1847,0,13862:54806034	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,58:398:99:0|1:54806034_C_A:1412,0,14102:54806034	5	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	9901.57	38	chr19	54806112	.	A	G	9901.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.987;DP=2693;ExcessHet=1.5895;FS=8.425;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.15;MQRankSum=-15.74;QD=5.16;ReadPosRankSum=-2.953;SOR=1.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:334,58:392:99:.:.:1394,0,8897:.	6	0	4	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,30:311:99:0|1:54808838_C_T:414,0,11607:54808838	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,35:326:99:0|1:54808838_C_T:594,0,12093:54808838	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,37:328:99:0|1:54808838_C_T:678,0,12087:54808838	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/1:294,40:334:99:798,0,7775	5	0	5	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,39:242:99:0|1:54855608_TCTC_T:1018,0,8407:54855608	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,39:246:99:0|1:54855608_TCTC_T:1006,0,8531:54855608	5	0	5	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,45:184:99:0|1:54865794_T_C:1471,0,5701:54865794	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,40:183:99:0|1:54865794_T_C:1249,0,5884:54865794	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,45:184:99:0|1:54865794_T_C:1471,0,5701:54865794	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,42:180:99:0|1:54865794_T_C:1348,0,5668:54865794	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,43:176:99:.:.:1366,0,3568:.	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,43:180:99:0|1:54865794_T_C:1393,0,5623:54865794	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,40:181:99:0|1:54865794_T_C:1255,0,5800:54865794	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,41:179:99:0|1:54865794_T_C:1303,0,5648:54865794	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,40:169:99:0|1:54865794_T_C:1288,0,5228:54865794	5	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	12846.6	33	chr19	54866420	.	C	G	12846.6	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.779;DP=1543;ExcessHet=1.5895;FS=6.87;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=56.21;MQRankSum=-16.34;QD=10.73;ReadPosRankSum=2;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,38:206:99:0|1:54866416_T_C:1090,0,6940:54866416	6	0	4	0
chr19	54983484	54983484	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1720T:p.H574Y,NLRP2:NM_001174081:exon6:c.C1786T:p.H596Y,NLRP2:NM_001348003:exon6:c.C1777T:p.H593Y,NLRP2:NM_017852:exon6:c.C1786T:p.H596Y,NLRP2:NM_001174083:exon7:c.C1717T:p.H573Y	.	0	1489	33	0	0	33	0.0109598	.	.	.	2818828	not_provided|NLRP2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0039	0.00479233	0.0048	0.0010	0.0028	0	0.0026	0.0058	0.0044	0.0079	0.0046312	716	154602	rs145361990	0.0046	0.0046	0.0044	0.0048	0.0088	0.0045	0.0044	0.0083	0.0081	0.0010	0.0030	0.0007	2.519e-05	0.0019	0.0054	0.0048	0.0047	0.0088	0.0042	0.0042	0.0041	0.0044	0.0093	0.0040	0.0039	0.0072	0.0064	0.0012	0.0208	0.0077	0.0003	0	0.0011	0	0.0058	0.0052	0.0093	1.0	0.00964	T	0.499	0.11933	T	0.0	0.02946	B	0.001	0.06944	B	0.074628	0.02289	N	2.378200	1	0.08975	N	0.41	0.12415	N	-0.77	0.73949	T	0.06	0.06253	N	0.07	0.05162	-0.9344	0.43485	T	0.182	0.53011	T	10	0.00559476	0.00124	T	.	.	.	0.093	0.26882	.	.	0.395143324098	0.39128	0.03770287522398932	0.03716	0.0496665203147	0.05445	0.261837333441	0.05111	T	0.007063	0.06479	T	-0.558919	0.00258	T	-0.570216	0.15430	T	0.00170639181622296	0.00017	T	.	.	.	0.028675193	0.02242	0.030178016	0.01442	0.028675193	0.02242	0.030178016	0.01442	-4.825	0.35836	T	.	.	0.071	0.05711	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.149311	0.00584	0.015	0.31505606775996231	0.01779	0.00872	0.03453	N	AEFDBI	0.067742	0.13331	N	-1.27453258896287	0.03984	0.1790299	-1.37898663334734	0.03477	0.1622601	9.90866055990346E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-0.749	0.10525	-2.326000	0.01195	.	.	-0.300000	0.06199	0.000000	0.06391	.	.	0.000000	0.00833	0.0:0.5254:0.0:0.4746	4.275	0.10253	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	4609.14	212	chr19	54983484	.	C	T	4609.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.15;DP=1377;ExcessHet=0.2348;FS=1.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.44;SOR=0.673	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2320,0,2324	8	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,58:58:99:.:.:2566,179,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,58:58:99:.:.:2566,179,0:.	1	8	1	0
chr19	57702381	57702381	C	A	exonic	ZNF154	.	stopgain	ZNF154:NM_001085384:exon3:c.G568T:p.E190X	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0012	0	0	0	0	2.997e-05	0	0.0090	0.0011255	174	154602	rs544751825	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	2.238e-05	0	0	0	0.0005	9.902e-06	0.0008	0.0075	0.0003	0.0003	0.0002	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	2.94e-05	0	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00520038	0.50936	T	0.225868	0.84469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.835431	0.93756	33	0.99234664489689184	0.56342	0.03468	0.08623	N	AEFDGBI	0.033577	0.04009	N	-0.0838766128490845	0.38098	2.226296	-0.482090163027226	0.22646	1.231126	4.03404832875359E-4	0.06860	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.6	0.444	0.15803	-3.811000	0.00405	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2476:0.458:0.0:0.2944	2.249	0.03793	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1831.43	37	chr19	57702381	.	C	A	1831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=602;ExcessHet=0;FS=3.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.812;SOR=0.46	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1843,0,1706	9	0	1	0
chr19	58471354	58471354	G	A	exonic	ZNF324	.	nonsynonymous SNV	ZNF324:NM_014347:exon4:c.G862A:p.A288T	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00534984152794	.	0.000798722	0.0004	9.891e-05	0.0003	0.0001	0	0.0003	0	0.0013	0.0010373	27	26028	rs551264244	0.0006	0.0011	0.0005	0.0007	0.0047	0.0006	0.0006	0.0033	0.0029	0.0004	0.0013	0.0025	0.0007	9.386e-05	0.0047	0.0003	0.0009	0.0029	0.0013	0.0014	0.0012	0.0014	0.0046	0.0012	0.0011	0.0031	0.0026	0.0007	0	0.0027	0.0037	0.0002	0	0.0102	0.0012	0.0028	0.0046	0.62	0.05309	T	0.614	0.07592	T	0.006	0.13644	B	0.01	0.14941	B	0.099107	0.19949	N	0.367674	1	0.08975	N	-0.57	0.02306	N	3.18	0.07478	T	-0.3	0.11913	N	0.05	0.03175	-0.9615	0.38897	T	0.006	0.02206	T	10	0.0055633485	0.00123	T	0.00535	0.13710	T	0.010	0.01040	.	.	0.0846915920261	0.08053	0.16134223849211798	0.16055	0.649115808177	0.58234	0.559035897255	0.47132	T	0.010764	0.09688	T	-0.720144	0.00028	T	-0.800675	0.01885	T	0.00201486172379058	0.00021	T	0.0159984	0.00089	T	0.04087226	0.05915	0.03931121	0.03994	0.04087226	0.05915	0.03931121	0.03994	-4.856	0.35237	T	.	.	0.073	0.04806	B	.;.	.;.	1.127975	0.15144	11.62	0.95695102627777662	0.27577	0.02760	0.07451	N	AEFGBI	0.055402	0.10157	N	-1.35891339963348	0.03034	0.1348826	-1.29580727690239	0.04487	0.2117628	0.935660705798886	0.27223	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.38	-1.79	0.07504	-2.737000	0.00871	-5.551000	0.01678	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1777:0.151:0.2538:0.4175	1.099	0.01576	911	0.21964	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006135	0.005051	0.006793	0.003205	0.000000	0.034483	0.006098	0.000000	0.05	40.43	42	chr19	58471354	.	G	A	40.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.52;DP=516;ExcessHet=0;FS=27.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.6;MQRankSum=-4.42;QD=0.35;ReadPosRankSum=-1.583;SOR=4.804	GT:AD:DP:GQ:PL	0/1:104,10:114:52:52,0,2522	9	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R	.	429	1043	45	5	0	55	0.0256889	.	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015609	0.015152	0.023098	0.020468	0.000000	0.017241	0.006098	0.011364	0.05	1587.43	34	chr20	2865406	.	T	C	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.59;DP=453;ExcessHet=0;FS=3.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.746;SOR=0.995	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1599,0,1305	9	0	1	0
chr20	18630384	18630384	G	T	exonic	DTD1	.	nonsynonymous SNV	DTD1:NM_001318043:exon5:c.G481T:p.D161Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	.	0	0	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10786182	0.20054	T	.	.	.	.	.	.	.	.	.	0.22195270624651095	0.22110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170083	0.01604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23779	B	.	.	0.058162	0.04700	1.338	0.22651361776058013	0.00921	0.00218	0.01233	N	AEFBI	.	.	.	.	.	.	.	.	.	0.120322708292356	0.16865	0.078448	0.01964	0	0.09434	0.02614	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046875	0.06002	.	.	.	-0.467000	0.06741	.	.	0.243000	0.18268	0.000000	0.06391	.	.	0.002000	0.04165	.	.	.	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.33	1	chr20	18630384	.	G	T	33.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	5	0	1	4
chr20	21303711	21303711	C	A	exonic	XRN2	.	stopgain	XRN2:NM_001317960:exon1:c.C173A:p.S58X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773874400	3.001e-05	3.078e-05	3.295e-05	2.677e-05	3.54e-05	2.14e-05	1.883e-05	2.524e-05	2.22e-05	0	0	0	0	0	0	3.54e-05	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1213.43	35	chr20	21303711	.	C	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.059;SOR=0.762	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1225,0,1173	9	0	1	0
chr20	23444852	23444852	G	C	exonic	CSTL1	.	nonsynonymous SNV	CSTL1:NM_138283:exon4:c.G412C:p.E138Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0089	0.00798722	0.0024	0.0260	0.0015	0	0	3.001e-05	0.0011	0	0.0022703	351	154602	rs76182203	0.0007	0.0007	0.0009	0.0006	0.0266	0.0007	0.0007	0.0252	0.0246	0.0266	0.0017	0	0	0	0.0002	7.198e-06	0.0016	0	0.0078	0.0078	0.0079	0.0076	0.0266	0.0074	0.0072	0.0253	0.0248	0.0266	0	0.0041	0	0	0	0	4.411e-05	0.0047	0.0002	0.041	0.41915	D	0.16	0.31427	T	0.649	0.40609	P	0.104	0.31021	B	0.005802	0.01096	N	3.081050	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.24	0.10833	N	0.141	0.14054	-1.0131	0.25943	T	0.006	0.01907	T	10	0.0041763783	0.00083	T	.	.	.	0.041	0.10877	.	.	0.0716867268079	0.06686	0.32155565151824417	0.32068	0.062640037526	0.06974	0.26288792491	0.05238	T	0.004528	0.03938	T	-0.725916	0.00025	T	-0.795233	0.02024	T	0.00458963428081075	0.00049	T	0.370463	0.08742	T	0.057640087	0.11495	0.03334155	0.02213	0.057640087	0.11495	0.03334155	0.02213	-3.432	0.15490	T	.	.	0.091	0.12891	B	.;.	.;.	0.312772	0.06877	3.412	0.86081908924461303	0.16301	0.35667	0.25355	N	AEFDBCI	0.039732	0.05813	N	-0.969755328472281	0.09254	0.437234	-1.0564043768251	0.08573	0.4221996	0.0135651373175953	0.12481	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.9	0.547	0.16392	0.308000	0.19071	3.023000	0.36010	-0.694000	0.04098	0.016000	0.19238	0.996000	0.32793	0.002000	0.04165	0.5037:0.0:0.4963:0.0	5.617	0.16718	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1004.43	34	chr20	23444852	.	G	C	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.687;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.256;SOR=0.669	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1016,0,877	9	0	1	0
chr20	32912837	32912837	G	C	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon17:c.G1829C:p.G610A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0020	0.00479233	0.0009	0.0083	0	0	0	0.0001	0	0	0.0003558	55	154602	rs113341957	0.0004	0.0004	0.0005	0.0004	0.0112	0.0004	0.0004	0.0099	0.0093	0.0112	0.0007	0	0	0	0.0002	5.991e-05	0.0009	1.593e-05	0.0032	0.0032	0.0034	0.0030	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0015	0	0	0	0	2.94e-05	0.0033	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.792	0.78832	.	.	.	.	.	.	.	0.011139214	0.00245	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.4600009700316676	0.45918	.	.	.	.	.	.	.	.	-0.42164	0.01670	T	-0.368045	0.37116	T	0.0318667941371714	0.02284	T	0.589041	0.21605	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.67664	P	.	.	4.139377	0.62006	24.4	0.99722820032360138	0.82195	0.77798	0.38295	D	AEFDBHCIJ	0.503842	0.53566	D	0.259696499101138	0.54121	3.578422	0.250377029745098	0.52671	3.44039	0.999350527677063	0.39259	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.36	5.36	0.76624	5.813000	0.68876	10.648000	0.83523	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.727000	0.35000	0.0:0.0:1.0:0.0	14.470	0.67090	154	0.93967	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1408.43	35	chr20	32912837	.	G	C	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=420;ExcessHet=0;FS=6.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.241;SOR=0.518	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1420,0,1311	9	0	1	0
chr20	33288741	33288741	A	G	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon3:c.A116G:p.K39R	.	419	1102	1	0	0	1	0.000453515	0.0001	0.064	.	716908	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0084	0.00858626	0.0026	0.0273	0.0023	0	0	6.129e-05	0.0023	0	0.0024256	375	154602	rs61737957	0.0007	0.0007	0.0008	0.0007	0.0243	0.0007	0.0007	0.0229	0.0224	0.0243	0.0019	0	0	0	0.0004	6.476e-05	0.0020	1.16e-05	0.0076	0.0077	0.0074	0.0079	0.0262	0.0073	0.0071	0.0249	0.0244	0.0262	0	0.0037	0	0	0	0	8.823e-05	0.0052	0	0.612	0.05436	T	0.475	0.12072	T	0.001	0.07471	B	0.002	0.06944	B	0.964438	0.08201	N	0.983940	1	0.08975	N	0.55	0.14455	N	1.5	0.31205	T	-0.99	0.26200	N	0.04	0.01347	-1.0508	0.14175	T	0.017	0.06950	T	9	0.0028855205	0.00046	T	.	.	.	0.050	0.13987	.	.	0.0846915920261	0.08053	0.293957741046879	0.29308	0.1350257562	0.15216	0.2923579216	0.09266	T	0.024274	0.18375	T	-0.623963	0.00104	T	-0.648107	0.09087	T	0.0090914399496975	0.00114	T	0.531747	0.18617	T	0.027346475	0.01914	0.026624478	0.00762	0.027346475	0.01913	0.026624478	0.00762	-4.22	0.27040	T	.	.	0.083	0.12560	B	.;.	.;.	0.143019	0.05365	1.848	0.73213375381383172	0.10247	0.01692	0.05390	N	AEFDBI	0.048193	0.08198	N	-1.31117973487941	0.03546	0.1586006	-1.45548446198128	0.02721	0.1256637	0.999958297649162	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.45	-10.2	0.00305	-0.756000	0.04882	-0.086000	0.12117	0.751000	0.87719	0.002000	0.15269	0.000000	0.08366	0.090000	0.17789	0.1985:0.1113:0.472:0.2183	4.111	0.09528	61	0.97388	.;Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	703.43	34	chr20	33288741	.	A	G	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.878;DP=458;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.39;SOR=0.478	GT:AD:DP:GQ:PL	0/1:35,30:65:99:715,0,816	9	0	1	0
chr20	34740518	34740518	C	T	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.G5738A:p.S1913N,NCOA6:NM_001318240:exon12:c.G5738A:p.S1913N	.	431	1089	2	0	0	2	0.000917431	.	.	.	694532	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	0.00437236144329	.	0.00259585	0.0007	0.0076	8.67e-05	0	0	0	0.0011	0	0.0006404	99	154602	rs146290271	0.0002	0.0002	0.0002	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0003	0	0	0	0.0005	5.396e-06	0.0003	2.319e-05	0.0017	0.0017	0.0017	0.0017	0.0061	0.0016	0.0015	0.0055	0.0052	0.0061	0	0.0005	0	0	0	0	2.94e-05	0.0014	0	0.395	0.10659	T	0.2	0.27591	T	0.0	0.02946	B	0.001	0.04355	B	0.027093	0.25813	N	0.407539	0.933031	0.27006	N	0.46	0.12951	N	1.85	0.24472	T	-0.11	0.08653	N	0.104	0.09772	-0.9867	0.33420	T	0.016	0.06329	T	10	0.0036070049	0.00065	T	0.004372	0.10655	T	0.067	0.19503	.	.	0.15499578495	0.15088	0.16463658666953399	0.16383	0.116126271502	0.13098	0.382820278406	0.22657	T	0.129959	0.45856	T	-0.703667	0.00035	T	-0.77968	0.02463	T	0.00395541245333831	0.00042	T	0.60344	0.22635	T	0.036320142	0.04446	0.054359768	0.09333	0.036320142	0.04446	0.054359768	0.09333	-5.152	0.38450	T	.	.	0.082	0.08657	B	.;.	.;.	1.062768	0.14447	11.02	0.96864083677926827	0.31392	0.34165	0.25002	N	AEFDBCI	0.068115	0.13423	N	-0.733028111648236	0.15099	0.75794	-0.596507266720254	0.19583	1.051358	0.00208323217943141	0.09143	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.51	1.44	0.21647	-0.020000	0.12466	-0.503000	0.08791	0.599000	0.40250	0.288000	0.25215	0.016000	0.20520	0.999000	0.91618	0.0:0.5912:0.0:0.4088	8.027	0.29605	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1800.43	35	chr20	34740518	.	C	T	1800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.939;DP=447;ExcessHet=0;FS=3.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.198;SOR=0.48	GT:AD:DP:GQ:PL	0/1:58,73:131:99:1812,0,1481	9	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:94,32:143:82:82,0,1633	2	0	8	0
chr20	34876769	34876769	C	A	exonic	ACSS2	.	nonsynonymous SNV	ACSS2:NM_001076552:exon1:c.C124A:p.P42T,ACSS2:NM_018677:exon1:c.C124A:p.P42T	.	428	1088	6	0	0	6	0.00274977	.	.	.	716915	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0013	0.0061901	0.0024	0.0417	0	0	.	0	0	0.0010	0.0004269	66	154602	rs146486104	0.0004	0.0004	0.0004	0.0004	0.0170	0.0004	0.0004	0.0156	0.0151	0.0170	0.0008	0	0	0	0.0011	8.944e-06	0.0008	0.0003	0.0040	0.0040	0.0041	0.0039	0.0140	0.0037	0.0036	0.0130	0.0127	0.0140	0	0.0010	0	0	0	0	4.412e-05	0.0024	0.0006	0.474	0.40573	T	0.449	0.38305	T	0.004	0.12183	B	0.026	0.20792	B	0.000717	0.42254	D	0.241337	0.976324	0.81001	D	0.035	0.08059	N	2.91	0.10008	T	-1.43	0.38734	N	0.116	0.15328	-0.9036	0.47606	T	0.002	0.00707	T	10	0.005499065	0.00121	T	.	.	.	0.065	0.18881	.	.	0.215109475489	0.21095	0.4676459185008698	0.46683	1.79913636405	0.91619	0.542055249214	0.44735	T	0.126139	0.45232	T	-0.509305	0.00507	T	-0.489421	0.23452	T	0.0112966769302697	0.00167	T	0.934107	0.75346	D	0.16320813	0.36447	0.06821388	0.14216	0.16320813	0.36447	0.06821388	0.14216	-1.616	0.02293	T	.	.	0.114	0.46551	B	.;.;.;.;.	.;.;.;.;.	2.336642	0.29942	18.28	0.97882078457065691	0.36607	0.84793	0.43883	D	ALL	0.202961	0.32951	N	-0.527145479086573	0.21206	1.123695	-0.416999882295964	0.24498	1.341826	0.999999999729429	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.12	0.551	0.16414	-0.063000	0.11612	-0.450000	0.09105	0.520000	0.23804	0.491000	0.26886	0.000000	0.08366	0.997000	0.79791	0.0:0.5507:0.1517:0.2975	4.782	0.12576	583	0.69484	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	47.46	13	chr20	34876769	.	C	A	47.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=111;ExcessHet=0;FS=0;InbreedingCoeff=-0.0552;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:59:59,0,153	9	0	1	0
chr20	35292083	35292083	G	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon1:c.C222A:p.S74R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0474957519034	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs765952343	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.111153	0.999953	0.52396	D	3.28	0.90206	M	2.07	0.20387	T	-3.64	0.69835	D	0.907	0.90818	-0.8678	0.50694	T	0.112	0.40122	T	10	0.9058217	0.89946	D	0.047496	0.62947	D	0.386	0.70276	0.747	0.87821	0.420322003156	0.41653	0.875719911811397	0.87538	0.784736392748	0.65455	0.777630150318	0.78570	T	0.330679	0.70084	T	0.174948	0.71576	D	0.0135245	0.71209	D	0.993661165237427	0.84556	D	0.861114	0.55479	D	0.80355537	0.84134	0.58570075	0.75974	0.80355537	0.84135	0.58570075	0.75975	-11.57	0.82694	D	.	.	0.979	0.90850	P	.	.	1.457709	0.18799	13.93	0.9973214125078147	0.82833	0.75388	0.36909	D	AEFDGBI	0.368904	0.45583	N	0.0437655219497603	0.43856	2.670458	-0.162267439950465	0.32938	1.879024	0.999999468966061	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.38	-5.42	0.02434	-0.175000	0.09816	-3.064000	0.03093	-0.103000	0.15852	0.369000	0.25916	0.000000	0.08366	0.978000	0.57271	0.2324:0.0:0.6644:0.1032	10.658	0.44882	417	0.81662	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1062.43	35	chr20	35292083	.	G	T	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.301;SOR=0.732	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1074,0,836	9	0	1	0
chr20	36194248	36194248	A	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon12:c.A1151G:p.H384R,EPB41L1:NM_012156:exon12:c.A1337G:p.H446R,EPB41L1:NM_177996:exon12:c.A1151G:p.H384R,EPB41L1:NM_001258329:exon13:c.A1337G:p.H446R,EPB41L1:NM_001258330:exon13:c.A1244G:p.H415R	.	2	1513	7	0	0	7	0.00230795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0404690956435	.	0.000199681	0.0001	0	8.667e-05	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs146290051	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0002	0	0	0	0.0014	0.0002	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	4.81e-05	0	0.0010	0	0	9.416e-05	0	0.0004	0	0	0.09	0.32769	T	0.386	0.41573	T	0.028	0.35330	B	0.113	0.31689	B	0.015451	0.28243	N	0.361835	0.99965	0.49076	D	0.975	0.24501	L	-1.78	0.83737	D	-3.47	0.72594	D	0.514	0.66615	-0.8816	0.49634	T	0.178	0.52427	T	10	0.17512906	0.32428	T	0.040469	0.59392	D	0.437	0.74164	.	.	0.780670533003	0.77865	0.6969529906183726	0.69636	0.35008633747	0.36853	0.786837279797	0.79961	T	0.513182	0.82830	D	-0.104784	0.35630	T	-0.0893549	0.64211	T	0.109602059284025	0.13382	T	0.950405	0.81010	D	0.21239404	0.43590	0.23384911	0.48585	0.21239404	0.43590	0.23384911	0.48584	-12.52	0.87359	D	0.4096263329378928	0.50014	0.139	0.45433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.728778	0.53327	23.3	0.9961841015902585	0.75233	0.98484	0.83265	D	AEFDGBI	0.894704	0.83397	D	0.20940360482903	0.51653	3.345018	0.285404094228598	0.54686	3.632893	0.999877963024941	0.44625	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.35	5.35	0.76297	7.380000	0.78983	11.216000	0.89583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	1.0:0.0:0.0:0.0	14.519	0.67426	695	0.58372	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	958.43	38	chr20	36194248	.	A	G	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.043;DP=414;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-0.026;SOR=0.89	GT:AD:DP:GQ:PL	0/1:59,45:104:99:970,0,1450	9	0	1	0
chr20	38013069	38013069	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G748A:p.E250K,TTI1:NM_014657:exon3:c.G748A:p.E250K	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00336407576799	0.0006	0.000399361	0.0004	9.615e-05	0.0007	0	0	0.0005	0.0011	6.058e-05	0.0003234	50	154602	rs141259940	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0078	0.0071	5.974e-05	0.0008	0.0004	0	1.873e-05	0.0099	0.0003	0.0006	0.0001	0.0004	0.0004	0.0005	0.0002	0.0007	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0007	0.0003	0	0	0.0034	0.0005	0.0014	0.0002	0.172	0.22660	T	0.533	0.10000	T	0.029	0.19866	B	0.027	0.21085	B	0.000224	0.47286	D	0.217463	0.999998	0.58761	D	1.465	0.36909	L	2.52	0.14160	T	-0.53	0.16393	N	0.144	0.14763	-1.0907	0.05416	T	0.038	0.16462	T	10	0.031507134	0.01286	T	0.003364	0.07512	T	0.064	0.18567	.	.	0.137902524267	0.13322	0.10473473503551949	0.10403	0.157839969041	0.17827	0.35806876421	0.19103	T	0.020634	0.16209	T	-0.464436	0.00922	T	-0.539607	0.18335	T	0.0180308031794487	0.00527	T	0.823018	0.48339	T	0.10643759	0.25167	0.14009862	0.33406	0.10643759	0.25167	0.14009862	0.33405	-5.758	0.44207	T	.	.	0.077	0.06617	B	.;.;.	.;.;.	2.678104	0.34927	19.76	0.99580328912059857	0.72980	0.98408	0.82470	D	AEFBI	.	.	.	0.0348028192118154	0.43443	2.637204	0.208208073737026	0.50303	3.223731	0.999978442099445	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	4.317000	0.58976	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.997000	0.79791	0.0:0.9247:0.0:0.0753	13.713	0.62163	749	0.51929	.;.;.	.	.	.	.	.	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	0.009567	0.030303	0.008152	0.017544	0.000000	0.017241	0.000000	0.000000	0.05	2284.43	36	chr20	38013069	.	C	T	2284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.375;DP=513;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.903;SOR=0.776	GT:AD:DP:GQ:PL	0/1:91,95:186:99:2296,0,2103	9	0	1	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I,KIAA1755:NM_001348708:exon4:c.C728T:p.T243I	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	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	0.017623	0.000000	0.023098	0.029240	0.050000	0.017241	0.024390	0.007576	0.05	629.43	34	chr20	38239704	.	G	A	629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.534;DP=402;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.709;SOR=0.839	GT:AD:DP:GQ:PL	0/1:30,28:58:99:641,0,728	9	0	1	0
chr20	38323873	38323873	G	T	exonic	BPI	.	stopgain	BPI:NM_001725:exon8:c.G760T:p.E254X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001469	0.38917	N	0.171726	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.937	0.94314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46401	0.93096	D	0.428742	0.93010	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	9.101139	0.98465	39	0.99677304822373658	0.78977	0.88753	0.48832	D	AEFBI	0.062758	0.12083	N	0.60852027448495	0.73713	6.011273	0.32615941176597	0.57082	3.872807	0.0109280259917912	0.12103	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.46	2.29	0.27658	2.670000	0.46499	3.642000	0.39350	0.654000	0.53741	0.997000	0.40164	1.000000	0.68203	0.121000	0.19209	0.0:0.3203:0.6797:0.0	12.466	0.55101	833	0.38804	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1876.43	35	chr20	38323873	.	G	T	1876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.355;DP=471;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.651;SOR=0.784	GT:AD:DP:GQ:PL	0/1:55,78:133:99:1888,0,1219	9	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,10:44:99:.:.:101,0,529:.	5	0	5	0
chr20	45208667	45208667	G	A	exonic	SEMG1	.	nonsynonymous SNV	SEMG1:NM_003007:exon2:c.G1370A:p.R457Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00208075824562	0.0019	0.00179712	0.0008	0.0052	0.0004	0	0.0041	0.0001	0.0012	7.062e-05	0.0007115	110	154602	rs137914795	0.0004	0.0004	0.0004	0.0003	0.0056	0.0003	0.0003	0.0049	0.0046	0.0056	0.0005	0	2.523e-05	0.0042	0.0002	3.788e-05	0.0008	9.399e-05	0.0018	0.0018	0.0017	0.0019	0.0051	0.0016	0.0015	0.0045	0.0043	0.0051	0	0.0005	0	0.0008	0.0038	0	8.82e-05	0.0014	0.0002	0.705	0.04107	T	0.43	0.13713	T	0.123	0.26785	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.2	0.07236	T	0.33	0.03889	N	0.037	0.01135	-0.9221	0.45265	T	0.009	0.03183	T	9	0.005224228	0.00114	T	0.002081	0.03828	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.04206873382196085	0.04151	0.0401084390643	0.04292	.	.	.	0.00208	0.01490	T	-0.704434	0.00034	T	-0.783143	0.02360	T	0.00552064186546192	0.00060	T	0.352865	0.07937	T	0.015121977	0.00123	0.029804213	0.01360	0.015121977	0.00123	0.029804213	0.01359	-2.08	0.03499	T	.	.	0.098	0.16451	B	.	.	0.131064	0.05267	1.766	0.18707940268700241	0.00600	0.00040	0.00335	N	AEFGBI	0.021635	0.00985	N	-1.62985309262346	0.01123	0.04876366	-1.75079241543305	0.00930	0.04162781	0.691501290010414	0.22594	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	1.25	-2.51	0.05996	-1.631000	0.02128	-3.548000	0.02704	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3473:0.0:0.6527:0.0	6.417	0.20922	906	0.23090	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1405.43	41	chr20	45208667	.	G	A	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.126;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=1.24;SOR=0.737	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1417,0,1442	9	0	1	0
chr20	45293997	45293997	C	T	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030592:exon7:c.G1352A:p.G451E,MATN4:NM_030590:exon8:c.G1475A:p.G492E,MATN4:NM_003833:exon10:c.G1598A:p.G533E	.	438	1082	2	0	0	2	0.000923361	.	.	.	3214379	MATN4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0111	0.0109824	0.0031	0.0349	0.0016	0	0	6.086e-05	0	0	0.0029301	453	154602	rs79708482	0.0010	0.0010	0.0011	0.0009	0.0345	0.0010	0.0010	0.0329	0.0322	0.0345	0.0019	3.83e-05	0	0	0.0012	7.196e-05	0.0023	4.644e-05	0.0093	0.0093	0.0098	0.0088	0.0324	0.0089	0.0087	0.0310	0.0304	0.0324	0	0.0029	0	0	0	0	0.0001	0.0076	0.0002	0.116	0.28395	T	0.618	0.10465	T	0.028	0.65571	B	0.023	0.63276	B	0.001855	0.37840	N	0.000000	0.935737	0.27763	N	0.985	0.24966	L	-0.91	0.75001	T	-0.53	0.17417	N	0.136	0.16028	-0.8041	0.54903	T	0.153	0.48257	T	10	0.0044611692	0.00092	T	.	.	.	0.105	0.29889	.	.	0.867671069683	0.86638	0.5262069395933298	0.52544	1.32499314031	0.83536	0.515538156033	0.40999	T	0.019572	0.15567	T	-0.412474	0.01914	T	-0.3402	0.40321	T	0.0154752613227845	0.00349	T	0.827917	0.50835	T	0.16744503	0.37142	0.1614166	0.37547	0.22958209	0.45698	0.14281283	0.33962	-2.097	0.05429	T	0.06435483699727322	0.02043	0.081	0.08368	B	.;.;.;.;.	.;.;.;.;.	2.963606	0.39475	21.0	0.99086828116497372	0.52100	0.50153	0.28597	D	ALL	0.156296	0.28162	N	0.0984178475897963	0.46389	2.879986	0.18672570305669	0.49119	3.11902	0.999999999999563	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.44	3.42	0.38259	3.034000	0.49441	4.004000	0.41101	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.968000	0.53726	0.222:0.6615:0.0:0.1165	4.529	0.11399	878	0.29785	.;Matrilin, coiled-coil trimerisation domain;.;Matrilin, coiled-coil trimerisation domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	721.43	33	chr20	45293997	.	C	T	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=377;ExcessHet=0;FS=4.93;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.182;SOR=1.329	GT:AD:DP:GQ:PL	0/1:34,30:64:99:733,0,780	9	0	1	0
chr20	45304759	45304759	C	G	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030590:exon3:c.G112C:p.V38L,MATN4:NM_030592:exon3:c.G112C:p.V38L,MATN4:NM_003833:exon4:c.G112C:p.V38L	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0103	0.0115815	0.0032	0.0374	0.0016	0	0	6.581e-05	0	0	0.0028913	447	154602	rs114313957	0.0010	0.0010	0.0011	0.0009	0.0350	0.0010	0.0010	0.0333	0.0327	0.0350	0.0019	3.871e-05	0	0	0.0012	7.185e-05	0.0023	4.676e-05	0.0095	0.0095	0.0098	0.0090	0.0329	0.0090	0.0089	0.0315	0.0309	0.0329	0	0.0029	0	0	0	0	0.0001	0.0080	0.0002	0.112	0.28900	T	0.11	0.37310	T	0.002	0.15093	B	0.009	0.17743	B	0.306376	0.14510	N	0.567187	1	0.81001	D	0.025	0.08010	N	-1.76	0.83578	D	-1.24	0.31375	N	0.27	0.32148	-0.9744	0.36257	T	0.095	0.35844	T	10	0.010562807	0.00234	T	.	.	.	0.160	0.41473	0.596	0.72617	0.731689507483	0.72930	0.30429060264883645	0.30342	0.442455837758	0.44211	0.605365216732	0.53662	T	0.027679	0.20215	T	-0.476282	0.00778	T	-0.431855	0.29724	T	0.00699006676985673	0.00079	T	0.89491	0.70155	D	0.40139407	0.60829	0.15064268	0.35518	0.38247988	0.59496	0.1735455	0.39687	-7.422	0.57059	T	0.16016723590682094	0.19522	0.279	0.59131	B	.;.;.;.;.	.;.;.;.;.	2.472060	0.31864	18.87	0.98073234238196871	0.38046	0.78633	0.38824	D	AEFDGBI	0.283488	0.39658	N	-0.567745150262052	0.19931	1.046928	-0.388569665773958	0.25336	1.392733	8.59423414899244E-5	0.04703	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	4.2	2.1	0.26226	1.168000	0.31468	3.432000	0.38322	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.998000	0.85391	0.0:0.6284:0.1751:0.1964	4.952	0.13368	872	0.31118	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	699.43	40	chr20	45304759	.	C	G	699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.173;DP=409;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.503;SOR=0.904	GT:AD:DP:GQ:PL	0/1:28,29:57:99:711,0,656	9	0	1	0
chr20	45308196	45308196	G	C	exonic	RBPJL	.	nonsynonymous SNV	RBPJL:NM_001281448:exon2:c.G76C:p.E26Q,RBPJL:NM_001281449:exon2:c.G76C:p.E26Q,RBPJL:NM_014276:exon2:c.G76C:p.E26Q	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0115	0.0115815	0.0032	0.0350	0.0016	0	0	6.004e-05	0	0	0.0030207	467	154602	rs115744323	0.0010	0.0010	0.0012	0.0009	0.0351	0.0010	0.0010	0.0335	0.0328	0.0351	0.0019	3.827e-05	0	0	0.0012	7.105e-05	0.0024	4.637e-05	0.0095	0.0095	0.0100	0.0090	0.0332	0.0091	0.0089	0.0317	0.0311	0.0332	0	0.0029	0	0	0	0	0.0001	0.0080	0.0002	0.044	0.42487	D	0.672	0.08419	T	0.838	0.46404	P	0.478	0.47030	P	0.496332	0.12000	N	0.737582	1	0.81001	D	1.04	0.26193	L	1.11	0.59037	T	-0.06	0.08495	N	0.41	0.45047	-1.0925	0.05128	T	0.054	0.22693	T	10	0.0033268332	0.00057	T	.	.	.	0.103	0.29403	.	.	0.433713641954	0.42991	0.34072041459186525	0.33985	0.883612736072	0.69867	0.561760663986	0.47516	T	0.04453	0.30794	T	-0.513172	0.00482	T	-0.484845	0.23933	T	0.0231140580180054	0.01037	T	0.589041	0.21605	T	0.1544938	0.34964	0.1365443	0.32662	0.1544938	0.34964	0.1365443	0.32661	-3.179	0.12226	T	.	.	0.095	0.15475	B	.;.;.	.;.;.	4.308810	0.65846	24.9	0.99751114037665656	0.84305	0.83321	0.42447	D	AEFDBHCIJ	0.408431	0.48011	N	0.0337676066701701	0.43395	2.633408	0.0902256011506764	0.44054	2.69476	0.999911177747874	0.45857	0.59774	0.34471	0	0.596491	0.49125	0	0.651303	0.49530	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	3.814000	0.55348	8.105000	0.76571	0.671000	0.69459	0.994000	0.38300	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	12.303	0.54206	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	755.43	33	chr20	45308196	.	G	C	755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=388;ExcessHet=0;FS=3.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.124;SOR=1.107	GT:AD:DP:GQ:PL	0/1:39,29:68:99:767,0,949	9	0	1	0
chr20	45840716	45840716	T	A	exonic	SNX21	.	nonsynonymous SNV	SNX21:NM_033421:exon4:c.T525A:p.F175L,SNX21:NM_152897:exon4:c.T525A:p.F175L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.0312831498292	0.0024	0.00259585	0.0006	0.0062	0.0003	0	0	0	0	6.056e-05	0.0005433	84	154602	rs35898295	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0005	0	0	0	0	1.799e-06	0.0007	3.478e-05	0.0015	0.0015	0.0016	0.0014	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0005	0	0	0	0	0	0.0014	0	0.069	0.35537	T	0.211	0.92824	T	0.018	0.38362	B	0.028	0.41250	B	0.000011	0.62929	N	0.113923	0.996969	0.81001	D	2.04	0.55661	M	-0.47	0.70133	T	-5.43	0.85323	D	0.621	0.66187	-0.7922	0.55601	T	0.150	0.47822	T	10	0.010530233	0.00234	T	0.031283	0.53406	D	0.517	0.79400	0.856	0.95547	0.429780353351	0.42593	0.7730206596088646	0.77252	0.415326448694	0.42189	0.829149663448	0.86432	D	0.266762	0.67995	T	-0.0486363	0.44654	T	0.159834	0.80797	D	0.0578951688337985	0.06833	T	0.731327	0.45852	T	0.42744875	0.62585	0.36052287	0.61492	0.42744875	0.62586	0.36052287	0.61492	-8.35	0.63431	D	.	.	0.973	0.89889	P	.;.;.	.;.;.	3.112538	0.41986	21.5	0.99125851126089604	0.53116	0.65219	0.32664	D	AEFBCI	0.204443	0.33087	N	-0.168316841788516	0.34459	1.967071	-0.0985635213258362	0.35450	2.051097	0.910882401398475	0.26351	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.32	3.19	0.35720	0.318000	0.19252	-0.195000	0.11000	0.665000	0.62972	0.998000	0.41325	0.649000	0.25954	0.997000	0.79791	0.156:0.1785:0.0:0.6655	3.961	0.08905	797	0.45241	Phox homologous domain|Phox homologous domain|Phox homologous domain;.;Phox homologous domain|Phox homologous domain|Phox homologous 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	.	.	.	.	.	.	.	.	0.05	996.43	41	chr20	45840716	.	T	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.659;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.665;SOR=0.606	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1008,0,743	9	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	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	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.1	3444.14	121	chr20	54028628	.	C	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.68;DP=516;ExcessHet=0.2348;FS=7.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.426;SOR=0.399	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1503,0,1316	8	0	2	0
chr20	57565562	57565562	C	T	exonic	PCK1	.	nonsynonymous SNV	PCK1:NM_002591:exon10:c.C1627T:p.R543W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0828391094999	.	.	3.299e-05	0.0002	0	0.0001	0	0	0	6.06e-05	2.59e-05	4	154602	rs745817666	2.189e-05	2.257e-05	1.77e-05	2.613e-05	0.0001	1.584e-05	1.356e-05	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	1.889e-05	6.623e-05	2.319e-05	3.943e-05	3.94e-05	5.139e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	6.823e-05	2.855e-05	7.243e-05	0	0	0	0.0004	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	3.09	0.08371	T	-5.16	0.83422	D	0.868	0.86511	-0.6170	0.64113	T	0.134	0.44759	T	10	0.893847	0.88734	D	0.082839	0.73987	D	0.415	0.72555	.	.	0.670596422724	0.66781	0.9702440307178898	0.97013	0.507641427205	0.48948	0.521762907505	0.41874	T	0.468051	0.80214	T	-0.0396463	0.46003	T	0.0352757	0.72620	D	0.984587967395782	0.75845	D	0.982702	0.94130	D	0.7737651	0.82274	0.69521576	0.82056	0.7737651	0.82275	0.69521576	0.82057	-13.236	0.90311	D	0.8765770733946245	0.93564	0.712	0.73454	P	.	.	3.881362	0.56413	23.7	0.99925265675100328	0.99042	0.45606	0.27576	N	AEFGBHCI	0.945750	0.95441	D	0.658626268484992	0.76929	6.577721	0.492196750178446	0.67472	5.088587	0.999835489540713	0.43792	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	4.66	0.57857	0.696000	0.25220	0.311000	0.17083	0.599000	0.40250	0.227000	0.24611	0.009000	0.19889	0.645000	0.32557	0.205:0.795:0.0:0.0	15.671	0.77034	809	0.43032	Phosphoenolpyruvate carboxykinase, GTP-utilising, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1551.43	40	chr20	57565562	.	C	T	1551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.49;DP=503;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.507;SOR=0.931	GT:AD:DP:GQ:PL	0/1:77,59:136:99:1563,0,1815	9	0	1	0
chr20	62064755	62064755	C	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.G1056T:p.Q352H	.	440	1081	0	1	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.0061901	0.0031	0.0714	0	0	0	0	0	0	0.0005692	88	154602	rs545583149	0.0005	0.0004	0.0005	0.0005	0.0217	0.0005	0.0004	0.0200	0.0193	0.0217	0.0012	0	0	0	0.0004	1.363e-05	0.0016	4.439e-05	0.0062	0.0062	0.0066	0.0058	0.0213	0.0059	0.0058	0.0201	0.0196	0.0213	0	0.0024	0	0	0	0.0070	1.521e-05	0.0054	0	0.063	0.36709	T	0.12	0.35970	T	0.679	0.41373	P	0.276	0.40142	B	0.005396	0.01076	U	11.033200	0.999997	0.08975	N	0.695	0.17993	N	1.75	0.26152	T	-0.83	0.22727	N	0.158	0.16447	-0.9921	0.32063	T	0.053	0.22423	T	10	0.0037680268	0.00070	T	.	.	.	0.061	0.17616	0.224	0.14813	0.456461865991	0.45270	0.4764881069352775	0.47568	0.64836943724	0.58189	0.694449782372	0.66345	T	0.091577	0.38824	T	-0.547167	0.00303	T	-0.543808	0.17924	T	0.0482498971015225	0.05189	T	0.279572	0.04862	T	0.1107636	0.26179	0.16682087	0.38519	0.1107636	0.26178	0.16682087	0.38518	-5.048	0.37357	T	.	.	0.205	0.43074	B	.	.	2.418354	0.31091	18.64	0.88966938511310389	0.18400	0.09521	0.15258	N	AEFDBHCI	0.035339	0.04531	N	-0.717499053747588	0.15530	0.7834528	-0.837298248870857	0.13593	0.705994	0.999985870530217	0.51787	0.455138	0.09556	0	0.475579	0.06741	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.3	1.19	0.20120	2.406000	0.44210	0.665000	0.20538	0.380000	0.20399	1.000000	0.71638	0.998000	0.33993	0.771000	0.36558	0.0:0.7883:0.2117:0.0	9.897	0.40496	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003338	0.013699	0.006098	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	101.71	6	chr20	62064755	.	C	A	101.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=113;ExcessHet=0;FS=0;InbreedingCoeff=-0.0722;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:113,0,31	9	0	1	0
chr20	62318575	62318575	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7118A:p.R2373Q	.	415	1106	1	0	0	1	0.000451875	.	.	.	717107	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0074	0.00539137	0.0021	0.0225	0.0010	0	0	0.0002	0	0.0002	0.0018628	288	154602	rs148907937	0.0007	0.0007	0.0008	0.0007	0.0203	0.0007	0.0007	0.0191	0.0186	0.0203	0.0012	0	2.519e-05	3.888e-05	0.0009	0.0002	0.0015	0.0003	0.0056	0.0056	0.0057	0.0055	0.0193	0.0053	0.0052	0.0182	0.0178	0.0193	0	0.0017	0	0	0	0	0.0002	0.0052	0.0004	0.477	0.08310	T	0.438	0.13403	T	0.003	0.11197	B	0.001	0.04355	B	0.243153	0.15668	N	0.595355	0.999999	0.08975	N	-0.22	0.03977	N	3.01	0.09075	T	-1.14	0.29323	N	0.124	0.11626	-0.9430	0.42137	T	0.005	0.01688	T	10	0.009405822	0.00212	T	.	.	.	0.071	0.20720	.	.	0.171220215726	0.16700	0.16355072683106767	0.16275	.	.	0.3245485425	0.14109	T	0.024843	0.18695	T	-0.757902	0.00016	T	-0.844531	0.01033	T	0.000556431894746657	0.00005	T	0.393561	0.09813	T	0.03571104	0.04255	0.044905763	0.05925	0.03571104	0.04254	0.044905763	0.05924	-4.697	0.33367	T	.	.	0.071	0.04002	B	.	.	0.093896	0.04970	1.533	0.87592801803882803	0.17339	0.02441	0.06877	N	AEFDGBHCI	0.061344	0.11722	N	-1.42637703025254	0.02409	0.1063408	-1.4461713622779	0.02805	0.129691	0.999992304470465	0.74766	0.67177	0.52595	0	0.626922	0.53725	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.88	-1.99	0.07047	0.218000	0.17407	-1.026000	0.06564	-0.200000	0.08971	0.270000	0.25046	0.006000	0.19429	0.216000	0.22352	0.0:0.5677:0.0:0.4323	10.853	0.45986	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	529.43	33	chr20	62318575	.	C	T	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.694;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.395;SOR=0.813	GT:AD:DP:GQ:PL	0/1:25,22:47:99:541,0,591	9	0	1	0
chr20	63561117	63561117	G	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon9:c.C5404A:p.L1802I,HELZ2:NM_001037335:exon15:c.C7111A:p.L2371I	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0585356888723	.	.	8.374e-06	0	0	0	0	0	0	6.204e-05	6.5e-06	1	154602	rs764576989	1.301e-05	1.3e-05	5.45e-06	2.064e-05	0.0002	8.32e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.47745	D	0.018	0.59732	D	0.983	0.60381	D	0.913	0.64886	D	0.161766	0.17641	N	0.549745	0.987627	0.40622	D	2.425	0.70256	M	-2.55	0.89561	D	-1.54	0.37375	N	0.52	0.57860	0.642	0.92442	D	0.768	0.92126	D	10	0.51832557	0.62496	D	0.058536	0.67351	D	0.560	0.81946	0.424	0.46857	0.703969262359	0.70140	0.23074138044099424	0.22989	0.748255062631	0.63626	0.546921372414	0.45423	T	0.233758	0.60064	T	-0.0215437	0.48634	T	-0.0871946	0.64373	T	0.819772720336914	0.47756	D	0.837116	0.50934	T	0.30970147	0.53760	0.2425035	0.49672	0.30970147	0.53760	0.2425035	0.49671	-7.865	0.60146	D	.	.	0.210	0.45124	B	.;.	.;.	4.415057	0.68328	25.2	0.99496608126423258	0.67801	0.95500	0.64968	D	AEFDGBI	0.599549	0.59253	D	0.53973155171182	0.69459	5.359908	0.473129793666525	0.66213	4.923157	0.978742033690472	0.29954	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	5.533000	0.66873	10.330000	0.83288	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.1677:0.8323:0.0	12.579	0.55730	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1169.43	37	chr20	63561117	.	G	T	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.179;DP=547;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.161;SOR=0.582	GT:AD:DP:GQ:PL	0/1:72,50:122:99:1181,0,1782	9	0	1	0
chr20	63950763	63950763	C	T	exonic	UCKL1	.	nonsynonymous SNV	UCKL1:NM_001193379:exon1:c.G64A:p.G22S,UCKL1:NM_001353478:exon1:c.G64A:p.G22S,UCKL1:NM_001353479:exon1:c.G64A:p.G22S	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0206429885906	.	.	0.0001	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs760083748	1.444e-05	1.436e-05	4.275e-06	2.488e-05	0.0002	9.43e-06	7.67e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.743e-05	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.535	0.06913	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.36	0.03700	N	0.184	0.19995	-1.0606	0.11607	T	0.071	0.28969	T	7	0.055994898	0.06209	T	0.020643	0.43275	T	0.142	0.37995	0.106	0.01810	0.274366138417	0.27033	.	.	.	.	.	.	.	.	.	.	-0.271662	0.11572	T	-0.426277	0.30358	T	0.0721273689152892	0.08946	T	0.458654	0.13238	T	.	.	.	.	.	.	.	.	-3.491	0.16306	T	.	.	0.078	0.07036	B	.	.	1.957981	0.24871	16.56	0.93640051453406525	0.23519	0.88842	0.48968	D	AEFDBI	0.214506	0.33997	N	-0.505787128826175	0.21893	1.165149	-0.387746015072379	0.25362	1.394237	0.999850595431066	0.44174	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.18	1.05	0.19280	1.191000	0.31747	1.046000	0.23597	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.912000	0.44740	0.0:0.6905:0.0:0.3095	8.126	0.30159	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1000.43	35	chr20	63950763	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.321;DP=386;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.659;SOR=1.059	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1012,0,616	9	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	0/1:133,124:257:99:3238,0,3325	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	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	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	0/1:116,84:200:99:1934,0,2792	1	4	5	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1116,0,1891	1	5	4	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:18:10:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:250,86,58:34449516	4	0	6	0
chr21	34614827	34614827	T	C	exonic	RCAN1	.	nonsynonymous SNV	RCAN1:NM_004414:exon1:c.A185G:p.Q62R	.	380	1139	3	0	0	3	0.00131521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.352371672104	.	0.00119808	5.636e-05	0	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs528556911	6.192e-05	9.029e-05	3.986e-05	8.445e-05	0.0011	5.1e-05	4.691e-05	0.0005	0.0003	0.0003	5.959e-05	0	0.0001	0	0.0011	4.565e-05	0.0002	0.0001	7.31e-05	7.227e-05	5.197e-05	9.52e-05	0.0012	4.015e-05	3.159e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	5.933e-05	0	0.0002	0.193	0.20912	T	0.383	0.15842	T	0.0	0.02946	B	0.002	0.06944	B	0.683929	0.10235	N	0.854787	0.987265	0.24534	N	0.205	0.09354	N	.	.	.	-0.78	0.21644	N	0.072	0.04547	-1.0782	0.07701	T	0.059	0.24539	T	9	0.015578955	0.00327	T	0.352372	0.92302	D	0.078	0.22779	0.474	0.55020	0.082315109003	0.07666	.	.	0.48447268662	0.47353	0.838611245155	0.87883	D	0.274951	0.64747	T	-0.252364	0.13810	T	-0.60028	0.12788	T	0.0196221726740328	0.00665	T	0.531447	0.17660	T	0.10386237	0.24551	0.09591569	0.22769	0.10386237	0.24550	0.09591569	0.22768	-3.332	0.14153	T	.	.	0.077	0.06387	B	.	.	2.772777	0.36401	20.2	0.80761896155542157	0.13356	0.00662	0.02865	N	AEFDGBHCI	0.089112	0.18063	N	-0.771476851365781	0.14058	0.6971962	-0.625457403382101	0.18840	1.008225	0.9999986752979	0.74766	0.72623	0.87236	0	0.516746	0.08562	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	4.47	2.1	0.26226	0.517000	0.22539	3.047000	0.36105	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.21:0.0:0.79	6.304	0.20335	878	0.29785	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	590.43	37	chr21	34614827	.	T	C	590.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=383;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:40,30:70:99:602,0,829	9	0	1	0
chr21	36230523	36230523	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon14:c.C1739T:p.S580L,DOP1B:NM_005128:exon14:c.C1739T:p.S580L	.	431	1088	3	0	0	3	0.00137678	.	.	.	3238084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00994026296851	0.0004	.	0.0003	0	8.637e-05	0	0.0003	0.0004	0	0.0003	0.000207	32	154602	rs146572771	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	4.472e-05	0	0	5.616e-05	0.0021	0.0001	0.0002	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0003	0	0	0	0	0.0003	0.0005	0	0.183	0.21718	T	0.279	0.21745	T	0.005	0.12996	B	0.003	0.08700	B	0.149236	0.02949	N	1.556230	1	0.08975	N	0.55	0.14455	N	2.73	0.11839	T	-1.95	0.45222	N	0.144	0.14480	-0.9977	0.30563	T	0.036	0.15378	T	10	0.058980614	0.07019	T	0.00994	0.25878	T	0.029	0.06676	.	.	0.329282125956	0.32538	0.24036934410187832	0.23950	0.156531399099	0.17672	0.304702430964	0.11106	T	0.04866	0.28082	T	-0.576136	0.00203	T	-0.756488	0.03240	T	0.0361699829434695	0.03011	T	0.761924	0.38711	T	0.04846713	0.08453	0.043917168	0.05571	0.04846713	0.08452	0.043917168	0.05571	-3.854	0.21614	T	.	.	0.065	0.01884	B	.	.	1.329643	0.17347	13.11	0.98525918688448855	0.42533	0.28390	0.23541	N	AEFBI	0.080241	0.16219	N	-0.8094847032285	0.13068	0.6411911	-0.825407331804636	0.13880	0.7224161	0.00716703349470812	0.11400	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.43	2.63	0.30420	1.520000	0.35506	0.388000	0.17857	-0.284000	0.06380	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.6604:0.1306:0.2089	6.483	0.21272	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1103.43	33	chr21	36230523	.	C	T	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.519;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.104;SOR=0.602	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1115,0,803	9	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	4153.92	51	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	4153.92	.	AC=5;AF=0.278;AN=18;BaseQRankSum=0.58;DP=769;ExcessHet=3.7549;FS=6.965;InbreedingCoeff=-0.3033;MLEAC=5;MLEAF=0.278;MQ=59.9;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.479;SOR=0.351	GT:AD:DP:GQ:PL	0/1:24,22:46:99:753,0,760	5	1	3	1
chr21	45456047	45456047	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon1:c.G517A:p.G173S,COL18A1:NM_130444:exon1:c.G517A:p.G173S	Knobloch syndrome, type 1, Autosomal recessive	1	1504	16	0	1	17	0.00529101	.	.	.	215594	not_specified|Inborn_genetic_diseases|COL18A1-related_disorder|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.0281467067284	0.0027	0.00159744	0.0031	0.0006	0.0016	0	0.0055	0.0042	0.0047	0.0018	0.0029172	451	154602	rs62000960	0.0028	0.0028	0.0027	0.0028	0.0096	0.0027	0.0027	0.0075	0.0068	0.0006	0.0020	0.0016	0	0.0052	0.0096	0.0029	0.0031	0.0021	0.0027	0.0027	0.0027	0.0027	0.0045	0.0025	0.0024	0.0037	0.0033	0.0007	0.0252	0.0045	0.0009	0	0.0039	0.0068	0.0033	0.0024	0.0025	0.193	0.23631	T	0.42	0.14116	T	0.058	0.32486	B	0.04	0.30579	B	0.047472	0.01973	N	2.749370	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.3	0.33197	N	0.135	0.13198	-1.0511	0.14092	T	0.061	0.25383	T	10	0.004279703	0.00086	T	0.028147	0.50866	D	0.019	0.03383	.	.	0.218112801441	0.21410	0.13889922558036855	0.13812	0.0671947334163	0.07511	0.274283051491	0.06707	T	0.061278	0.31612	T	-0.628062	0.00098	T	-0.672609	0.07442	T	0.00253587578120646	0.00026	T	0.534647	0.17878	T	0.04192067	0.06264	0.045697678	0.06207	0.032893058	0.03400	0.048987772	0.07392	-3.779	0.23503	T	.	.	0.091	0.13268	B	.;.	.;.	-0.193884	0.03122	0.499	0.41347441968602916	0.02977	0.03009	0.07878	N	AEFBI	0.243423	0.36471	N	-1.16273116292522	0.05573	0.2544294	-1.28119554121472	0.04685	0.221552	0.999810720525362	0.43459	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.05	-2.65	0.05739	-1.607000	0.02173	-0.523000	0.08678	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4399:0.1388:0.4213:0.0	5.359	0.15379	680	0.59965	.;Domain of unknown function DUF959, collagen XVIII, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007049	0.005051	0.008152	0.014620	0.000000	0.008621	0.009146	0.007576	0.05	1643.43	110	chr21	45456047	.	G	A	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.542;DP=881;ExcessHet=0;FS=8.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-1.056;SOR=1.171	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1655,0,1151	9	0	1	0
chr21	46356980	46356980	C	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon13:c.C1589G:p.P530R,PCNT:NM_006031:exon13:c.C1943G:p.P648R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	21	1498	3	0	0	3	0.00100033	.	.	.	208736	not_specified|Inborn_genetic_diseases|not_provided|PCNT-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0264367409791	.	.	0.0001	0	0.0003	0	0	0.0001	0	6.057e-05	9.7e-05	15	154602	rs752992538	8.21e-05	8.277e-05	6.263e-05	0.0001	0.0043	7.003e-05	6.553e-05	0.0030	0.0025	8.963e-05	0.0001	0.0004	0	0	0.0043	5.576e-05	0.0001	6.957e-05	5.252e-05	5.249e-05	6.423e-05	4.028e-05	7.35e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	2.404e-05	0	6.536e-05	0	0	0	0.0034	7.35e-05	0	0	0.376	0.11334	T	0.092	0.39954	T	0.175	0.28858	B	0.043	0.24256	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.93	0.01395	T	-0.02	0.07299	N	0.161	0.16864	-0.8980	0.48195	T	0.004	0.01365	T	9	0.046045095	0.03747	T	0.026437	0.49346	D	0.028	0.06331	0.307	0.27806	0.382761230579	0.37889	0.021293751230614066	0.02082	0.435177631789	0.43630	0.288303017616	0.08676	T	0.042316	0.26143	T	-0.479757	0.00742	T	-0.657615	0.08427	T	0.0291036537466376	0.01853	T	0.390461	0.09684	T	0.036052596	0.04362	0.055938385	0.09903	0.036052596	0.04362	0.055938385	0.09903	-3.739	0.19895	T	.	.	0.114	0.22717	B	.	.	1.118517	0.15040	11.54	0.86202391918116539	0.16380	0.28482	0.23566	N	AEFDGBCI	0.052614	0.09407	N	-0.941832067931214	0.09877	0.4694408	-0.989674133327664	0.10016	0.5018495	0.999646047427301	0.41316	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	0.721	0.17373	0.945000	0.28654	0.068000	0.14222	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2996:0.53:0.0:0.1703	4.575	0.11621	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.020468	0.000000	0.000000	0.000000	0.000000	0.05	1204.43	50	chr21	46356980	.	C	G	1204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=486;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1216,0,1521	9	0	1	0
chr22	16591592	16591592	C	T	exonic	CCT8L2	.	stopgain	CCT8L2:NM_014406:exon1:c.G959A:p.W320X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.00319489	0.0011	0.0121	0.0002	0.0001	0	1.498e-05	0	6.056e-05	0.0009702	150	154602	rs144853652	0.0003	0.0003	0.0003	0.0002	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0005	0	5.038e-05	0	0	3.597e-06	0.0005	3.478e-05	0.0030	0.0030	0.0032	0.0028	0.0106	0.0028	0.0027	0.0098	0.0094	0.0106	0	0.0010	0	0	0	0	2.94e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003320	0.35125	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.028	0.00618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0330601	0.46970	T	0.18913	0.82519	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.826492	0.93721	33	0.96534567284765505	0.30165	0.00533	0.02466	N	AEFBI	0.022442	0.01122	N	0.0960463296848085	0.46279	2.870655	-0.332390554090526	0.27059	1.498879	3.86578303881523E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.98	0.923	0.18539	0.110000	0.15273	-2.033000	0.04315	0.396000	0.20521	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.0:0.7691:0.0:0.2309	3.863	0.08511	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2639.43	35	chr22	16591592	.	C	T	2639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=541;ExcessHet=0;FS=6.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.7;MQRankSum=-0.583;QD=11.84;ReadPosRankSum=0.727;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,106:223:99:0|1:16591592_C_T:2651,0,2620:16591592	9	0	1	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H,CECR2:NM_001290047:exon17:c.G3530A:p.R1177H	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.004076	0.005848	0.000000	0.000000	0.021341	0.041667	0.05	3686.43	36	chr22	17548817	.	G	A	3686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.927;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.282;SOR=0.682	GT:AD:DP:GQ:PL	0/1:124,150:274:99:3698,0,3088	9	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.05	1336.43	70	chr22	18922842	.	G	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.132;DP=571;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.014;SOR=0.589	GT:AD:DP:GQ:PL	0/1:27,57:84:99:1348,0,499	9	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3549,369,0	3	5	2	0
chr22	21867418	21867418	-	CCG	exonic	MAPK1	.	nonframeshift insertion	MAPK1:NM_002745:exon1:c.22_23insCGG:p.A7_G8insA,MAPK1:NM_138957:exon1:c.22_23insCGG:p.A7_G8insA	.	10	1488	21	0	3	24	0.00700701	.	.	.	1164574	MAPK1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	0	0.0031	0	0.0147	0.0001153	3	26028	rs770506771	0.0044	0.0040	0.0042	0.0045	0.0455	0.0042	0.0042	0.0406	0.0388	0.0017	0.0455	0.0024	0.0007	0.0062	0.0063	0.0035	0.0055	0.0326	0.0084	0.0086	0.0070	0.0099	0.0416	0.0081	0.0079	0.0369	0.0351	0.0032	0.0220	0.0365	0.0035	0.0031	0.0082	0.0069	0.0037	0.0024	0.0416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1656.1	37	chr22	21867418	.	C	CCCG	1656.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=402;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=0.214;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,26:49:99:1020,0,888	8	0	2	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2983.14	146	chr22	23765457	.	G	A	2983.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.67;DP=545;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=2.42;SOR=0.69	GT:AD:DP:GQ:PL	0/1:63,41:104:99:987,0,1587	8	0	2	0
chr22	30341838	30341838	G	A	exonic	SF3A1	.	nonsynonymous SNV	SF3A1:NM_005877:exon7:c.C925T:p.L309F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0366141577596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.011	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	0.94	0.43672	T	-3.63	0.69714	D	0.746	0.74553	-0.1632	0.78592	T	0.401	0.75209	T	10	0.7940153	0.78908	D	0.036614	0.57104	D	0.577	0.82912	0.435	0.48664	0.666889075856	0.66407	0.6995076552216609	0.69891	2.04020034352	0.94242	0.875791788101	0.93386	D	0.675557	0.90417	D	0.234942	0.77185	D	0.0997011	0.76888	D	0.96374773979187	0.66749	D	0.912709	0.68911	D	0.5394313	0.69364	0.55511105	0.74269	0.5394313	0.69365	0.55511105	0.74270	-11.959	0.84651	D	.	.	0.969	0.95337	P	.;.	.;.	5.016676	0.83347	28.0	0.9979600140967686	0.88106	0.97974	0.78556	D	AEFDBCI	0.935665	0.93086	D	1.03831942631861	0.96805	15.16961	0.997827093304162	0.98585	18.70847	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.953000	0.98977	9.980000	0.82917	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0:0.0:1.0:0.0	20.428	0.99077	306	0.87689	Splicing factor 3A subunit 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.43	33	chr22	30341838	.	G	A	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.742;DP=601;ExcessHet=0;FS=99.289;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.334;SOR=7.328	GT:AD:DP:GQ:PL	0/1:104,36:142:65:65,0,1539	9	0	1	0
chr22	31125869	31125869	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G1130A:p.S377N,INPP5J:NM_001284286:exon3:c.G929A:p.S310N,INPP5J:NM_001284288:exon3:c.G29A:p.S10N,INPP5J:NM_001284289:exon4:c.G29A:p.S10N	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	.	0.00459265	0.0034	0	0.0004	0	0.0002	0	0	0.0245	0.0028848	446	154602	rs377079595	0.0016	0.0016	0.0008	0.0023	0.0253	0.0015	0.0015	0.0245	0.0241	5.987e-05	0	0	2.523e-05	0	0.0005	6.304e-06	0.0015	0.0253	0.0008	0.0008	0.0004	0.0013	0.0251	0.0007	0.0006	0.0215	0.0201	2.408e-05	0	0	0	0	0	0	0	0	0.0251	0.071	0.35165	T	0.433	0.54541	T	0.089	0.25085	B	0.023	0.19966	B	0.189149	0.16893	N	0.570205	1	0.08975	N	0.55	0.14455	N	-4.42	0.98594	D	-0.36	0.17624	N	0.026	0.03175	0.533	0.91004	D	0.867	0.95586	D	9	0.00186342	0.00025	T	.	.	.	0.210	0.50028	0.196	0.10839	0.705752615724	0.70319	0.23007665260745036	0.22922	.	.	0.327621459961	0.14575	T	0.022098	0.17096	T	-0.411504	0.01943	T	-0.34495	0.39784	T	0.0041052172781681	0.00044	T	0.275872	0.05105	T	0.037090052	0.04688	0.05958177	0.11206	0.037090052	0.04688	0.05958177	0.11206	-4.984	0.36666	T	.	.	0.072	0.04558	B	.;.;.;.	.;.;.;.	0.901266	0.12752	9.271	0.95187413145797173	0.26366	0.06949	0.12975	N	AEFBI	0.087784	0.17799	N	-0.646289283163877	0.17568	0.9051356	-0.659119622214626	0.17986	0.9588734	0.998900227076684	0.37938	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.99	3.96	0.45097	0.813000	0.26883	0.653000	0.20435	-0.103000	0.15852	0.002000	0.15269	0.000000	0.08366	0.849000	0.40138	0.0:0.1615:0.6714:0.167	8.936	0.34860	624	0.65661	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	898.43	38	chr22	31125869	.	G	A	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.914;DP=410;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.445;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,34:59:99:0|1:31125864_A_C:910,0,580:31125864	9	0	1	0
chr22	35658768	35658768	C	A	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C204A:p.D68E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00235998141077	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs553196772	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0008	6.666e-05	6.201e-05	0.0006	0.0006	0	0	0	0.0003	1.872e-05	0	3.058e-05	3.311e-05	0.0008	3.284e-05	3.281e-05	0	6.715e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.115	0.28520	T	0.13	0.34716	T	0.997	0.70673	D	0.854	0.60866	P	0.000194	0.48115	N	0.132959	1	0.08975	N	1.83	0.48079	L	3.52	0.04905	T	-3.41	0.67129	D	0.154	0.15888	-1.0142	0.25593	T	0.023	0.09923	T	10	0.052827924	0.05378	T	0.00236	0.04590	T	0.133	0.36157	0.713	0.84872	0.496165130923	0.49253	0.440622452961107	0.43979	0.645859863428	0.58019	0.380053311586	0.22265	T	0.197911	0.55473	T	-0.440325	0.01288	T	-0.478077	0.24650	T	0.163656800985336	0.18138	T	0.517048	0.16713	T	0.21972328	0.44511	0.22824171	0.47860	0.21972328	0.44511	0.22824171	0.47859	-5.817	0.44722	T	.	.	0.537	0.66216	A	.	.	1.539961	0.19747	14.42	0.9836373721809859	0.40668	0.08804	0.14678	N	AEFBI	0.084925	0.17214	N	-0.588292178418372	0.19298	1.00897	-0.825862740642293	0.13868	0.7217798	0.988925660688703	0.31670	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.14	-0.686	0.10755	0.042000	0.13834	-1.891000	0.04543	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.001000	0.02609	0.1592:0.5038:0.1547:0.1823	2.047	0.03346	671	0.60868	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1351.43	35	chr22	35658768	.	C	A	1351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=411;ExcessHet=0;FS=9.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.48;SOR=0.221	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1363,0,880	9	0	1	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	394.14	110	chr22	36316560	.	G	C	394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.366;DP=800;ExcessHet=0.2348;FS=166.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=2.69;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15:83:98:0|1:36316559_G_T:98,0,2498:36316559	8	0	2	0
chr22	38169240	38169240	T	C	exonic	PLA2G6	.	nonsynonymous SNV	PLA2G6:NM_001004426:exon2:c.A187G:p.R63G,PLA2G6:NM_001199562:exon2:c.A187G:p.R63G,PLA2G6:NM_001349864:exon2:c.A187G:p.R63G,PLA2G6:NM_001349865:exon2:c.A187G:p.R63G,PLA2G6:NM_001349866:exon2:c.A187G:p.R63G,PLA2G6:NM_003560:exon2:c.A187G:p.R63G	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	689290	not_provided|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.154	.	0.0045	0.00359425	0.0011	0.0131	0.0003	0	0	0	0	0	0.0010479	162	154602	rs11570606	0.0003	0.0003	0.0004	0.0003	0.0117	0.0003	0.0003	0.0108	0.0104	0.0117	0.0004	0	0	0	0.0005	8.994e-06	0.0006	5.798e-05	0.0035	0.0035	0.0035	0.0034	0.0122	0.0032	0.0031	0.0113	0.0110	0.0122	0	0.0008	0	0	0	0	0	0.0033	0	0.117	0.49117	T	0.303	0.92824	T	0.456	0.59675	P	0.109	0.70672	B	0.010118	0.30062	N	0.391272	0.957729	0.26251	N	1.6	0.40776	L	0.06	0.74689	T	-1.53	0.77637	N	0.41	0.52918	-0.8689	0.50612	T	0.209	0.56906	T	10	0.0058707297	0.00131	T	.	.	.	0.154	0.40340	.	.	0.825430356861	0.82378	0.45696718359733185	0.45614	0.359941591937	0.37683	0.365423500538	0.20173	T	0.159208	0.50255	T	-0.308645	0.07868	T	-0.205093	0.54163	T	0.025088363342983	0.01285	T	0.876412	0.67374	D	0.12935235	0.30215	0.10047697	0.24023	0.08232969	0.18961	0.0922209	0.21722	-4.913	0.35881	T	0.16304576920600222	0.20066	0.124	0.35056	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.310840	0.29582	18.17	0.99668153854644137	0.78394	0.60549	0.31227	D	AEFBI	0.204246	0.33069	N	-0.114062243429727	0.36780	2.13065	-0.0476923648846562	0.37590	2.20302	0.948613022331147	0.27808	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.81	3.76	0.42368	2.044000	0.40863	2.392000	0.32546	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.955000	0.50612	0.0:0.0965:0.1886:0.7149	4.978	0.13500	360	0.84920	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	492.43	33	chr22	38169240	.	T	C	492.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.453;SOR=0.793	GT:AD:DP:GQ:PL	0/1:54,25:79:99:504,0,1377	9	0	1	0
chr22	39532512	39532512	G	A	exonic	RPS19BP1	.	nonsynonymous SNV	RPS19BP1:NM_194326:exon2:c.C64T:p.P22S	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0068	0.00778754	0.0025	0.0279	0.0010	0	0	1.52e-05	0	6.058e-05	0.0022639	350	154602	rs75899575	0.0007	0.0007	0.0008	0.0007	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0009	0	0	0	0.0009	7.195e-06	0.0016	5.797e-05	0.0069	0.0069	0.0070	0.0068	0.0238	0.0065	0.0064	0.0226	0.0221	0.0238	0	0.0031	0	0	0	0	2.94e-05	0.0052	0	0.485	0.08115	T	0.618	0.07493	T	0.001	0.07471	B	0.003	0.08700	B	0.447315	0.12552	N	0.754197	1	0.08975	N	0.205	0.09354	N	1.04	0.40218	T	-0.15	0.09297	N	0.098	0.07949	-1.0659	0.10339	T	0.018	0.07470	T	10	0.0026219785	0.00040	T	.	.	.	0.017	0.02790	.	.	0.250039746154	0.24611	0.11767168548345407	0.11694	0.567776707679	0.53022	0.404454112053	0.25688	T	0.011804	0.10480	T	-0.692043	0.00041	T	-0.747251	0.03595	T	0.0024548098871675	0.00025	T	0.717928	0.33070	T	0.024459455	0.01279	0.048950154	0.07378	0.024459455	0.01279	0.048950154	0.07378	-3.702	0.19348	T	.	.	0.058	0.00670	B	.	.	0.570594	0.09389	6.171	0.79282050083999434	0.12671	0.05213	0.11040	N	AEFDGBHCI	0.090806	0.18398	N	-1.06764966621116	0.07246	0.3360129	-1.05030683462919	0.08701	0.4290944	0.999999834079268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.44	1.92	0.24912	0.198000	0.17018	-0.819000	0.07303	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1636:0.4892:0.3472:0.0	8.183	0.30484	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1093.43	37	chr22	39532512	.	G	A	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.628;SOR=0.743	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1105,0,1177	9	0	1	0
chr22	42127869	42127869	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon5:c.C805T:p.L269F,CYP2D6:NM_000106:exon6:c.C958T:p.L320F	.	.	.	.	.	.	.	.	.	.	.	3420149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0444875125525	.	0.000199681	3.307e-05	0	0	0	0	6.018e-05	0	0	3.23e-05	5	154602	rs141289473	2.809e-05	2.875e-05	3.408e-05	2.203e-05	5.997e-05	2.09e-05	1.881e-05	1.629e-05	1.384e-05	5.997e-05	0	0.0003	0	0	0	2.342e-05	9.954e-05	0	1.321e-05	1.315e-05	0	2.701e-05	2.951e-05	2.19e-06	8.2e-07	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0	0.249	0.17183	T	0.372	0.16376	T	.	.	.	.	.	.	0.012364	0.29198	N	0.290714	0.710761	0.30016	N	1.43	0.35840	L	-1.39	0.80387	T	-1.72	0.40850	N	0.12	0.12341	-0.5167	0.68039	T	0.370	0.72955	T	10	0.15510112	0.29241	T	0.044488	0.61512	D	0.083	0.24192	.	.	0.703703398174	0.70113	0.37556111801300057	0.37470	0.183019468109	0.20584	0.630135655403	0.57165	T	0.004095	0.19042	T	-0.1093	0.34885	T	-0.264328	0.48391	T	0.0812236443161964	0.10143	T	0.845715	0.52723	T	0.2515379	0.48163	0.2163878	0.46264	0.2515379	0.48163	0.2163878	0.46263	-5.254	0.41914	T	.	.	0.161	0.53300	B	.;.;.;.;.	.;.;.;.;.	2.258877	0.28859	17.94	0.99134606585577456	0.53356	0.69555	0.34234	D	AEFDGI	0.372583	0.45817	N	-0.190727706731438	0.33518	1.902592	-0.116003791237404	0.34743	2.002068	0.0023806286249498	0.09366	0.580535	0.33130	0	0.550933	0.16991	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.45	2.26	0.27418	2.196000	0.42320	3.750000	0.39681	0.595000	0.32841	0.682000	0.28457	1.000000	0.68203	0.219000	0.22435	0.3801:0.0:0.6199:0.0	5.823	0.17795	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1948.43	37	chr22	42127869	.	G	A	1948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=837;ExcessHet=0;FS=2.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=2.35;SOR=0.867	GT:AD:DP:GQ:PL	0/1:83,73:156:99:1960,0,2114	9	0	1	0
chr22	43222689	43222689	C	A	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon12:c.G1381T:p.A461S	.	.	.	.	.	.	.	.	.	.	.	2819645	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0078	0.00259585	0.0101	0.0013	0.0068	0	0.0266	0.0150	0.0191	0.0007	0.0062548	967	154602	rs148458324	0.0086	0.0086	0.0088	0.0085	0.0099	0.0085	0.0084	0.0098	0.0097	0.0015	0.0048	0.0033	0	0.0115	0.0005	0.0099	0.0082	0.0008	0.0069	0.0069	0.0067	0.0071	0.0114	0.0065	0.0064	0.0107	0.0105	0.0013	0	0.0059	0.0029	0	0.0097	0.0204	0.0114	0.0047	0.0008	0.728	0.03834	T	0.812	0.03921	T	0.0	0.02946	B	0.001	0.04355	B	0.605376	0.10918	N	0.847688	0.999989	0.18198	N	0.64	0.16041	N	-1.91	0.84701	D	0.17	0.05125	N	0.124	0.11626	-0.9013	0.47857	T	0.159	0.49228	T	10	0.0034600794	0.00061	T	.	.	.	0.191	0.46948	.	.	0.496990393407	0.49334	0.10792654409032168	0.10721	0.118087529541	0.13296	0.23724129796	0.02547	T	0.039613	0.25250	T	-0.539652	0.00336	T	-0.536918	0.18600	T	6.78933502058499e-05	0.00001	T	0.593441	0.21910	T	0.04204918	0.06304	0.03674438	0.03182	0.04204918	0.06304	0.03674438	0.03181	-3.705	0.19392	T	.	.	0.066	0.02145	B	.	.	-0.608563	0.01548	0.101	0.39279338805310293	0.02701	0.12143	0.17086	N	AEFDBCI	0.105545	0.21087	N	-1.50251163103726	0.01833	0.08038085	-1.45736851483141	0.02704	0.1248541	0.783797137851401	0.23892	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.16	-1.2	0.09062	-0.984000	0.03865	-0.087000	0.12105	-0.206000	0.08541	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.2337:0.4632:0.0:0.3031	6.171	0.19634	682	0.59757	.	RRP7A|TTLL12|RRP7A|RRP7BP|RRP7BP|TTLL12|TTLL12|TTLL12|TTLL12|TTLL12|TTLL12	Adipose_Subcutaneous|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs148458324	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001517	0.005102	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	683.43	40	chr22	43222689	.	C	A	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=386;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.38;SOR=1.091	GT:AD:DP:GQ:PL	0/1:29,28:57:99:695,0,628	9	0	1	0
chr22	43716927	43716927	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon7:c.G347A:p.R116H,EFCAB6:NM_022785:exon9:c.G803A:p.R268H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00175234999014	0.0003	0.000599042	3.308e-05	0.0003	8.667e-05	0	0	0	0	0	4.53e-05	7	154602	rs147122126	1.824e-05	1.779e-05	1.811e-05	1.838e-05	0.0005	1.269e-05	1.078e-05	0.0003	0.0003	0.0005	0	0	0	1.891e-05	0.0002	3.65e-06	1.698e-05	2.582e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.471e-05	0	0	0.552	0.18122	T	0.146	0.33000	T	0.006	0.13644	B	0.003	0.08700	B	0.083368	0.02378	N	1.965940	1	0.08975	N	0.315	0.10303	N	2.53	0.30937	T	-0.21	0.11366	N	0.038	0.03283	-1.0332	0.19427	T	0.043	0.18618	T	10	0.014961451	0.00314	T	0.001752	0.02960	T	0.010	0.01040	.	.	0.0762999501168	0.06990	0.10833851835732601	0.10762	0.0647259842314	0.07223	0.205652922392	0.00640	T	0.00192	0.01337	T	-0.654032	0.00068	T	-0.79528	0.02023	T	0.00893086520400332	0.00111	T	0.518348	0.16810	T	0.01569159	0.00152	0.021333128	0.00189	0.01569159	0.00152	0.021333128	0.00188	-3.911	0.22467	T	.	.	0.066	0.04002	B	.;.;.	.;.;.	-1.757004	0.00172	0.003	0.7896240202416076	0.12529	0.00165	0.00980	N	AEFBI	0.035739	0.04649	N	-1.4500401624287	0.02216	0.0976216	-1.59986192844343	0.01656	0.07518209	0.191302074556226	0.18003	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.52	-6.48	0.01726	-1.581000	0.02223	-8.831000	0.00907	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1429:0.6203:0.0:0.2368	6.977	0.23863	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	567.43	35	chr22	43716927	.	C	T	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.608;DP=383;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=2.12;SOR=0.333	GT:AD:DP:GQ:PL	0/1:29,28:57:99:579,0,651	9	0	1	0
chr22	43716966	43716966	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon7:c.C308T:p.S103L,EFCAB6:NM_022785:exon9:c.C764T:p.S255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00382281226393	0.0002	0.000599042	4.245e-05	0.0003	8.694e-05	0	0	1.522e-05	0	0	5.17e-05	8	154602	rs140710834	1.514e-05	1.779e-05	1.57e-05	1.456e-05	0.0005	9.73e-06	8.26e-06	0.0003	0.0003	0.0005	0	0	0	1.929e-05	0.0002	1.857e-06	0	1.424e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.08	0.41913	T	0.022	0.31830	B	0.004	0.18140	B	0.628919	0.10706	N	0.786837	1	0.08975	N	1.545	0.39105	L	2.47	0.32238	T	-1.22	0.30964	N	0.134	0.14054	-1.0508	0.14175	T	0.040	0.17191	T	10	0.027482957	0.00894	T	0.003823	0.08930	T	0.010	0.01040	.	.	0.319686207203	0.31575	0.1486478235031512	0.14786	0.0538018748346	0.05943	0.320154309273	0.13445	T	0.002215	0.01614	T	-0.571006	0.00218	T	-0.676019	0.07228	T	0.0122786471620202	0.00199	T	0.770723	0.40088	T	0.053326912	0.10075	0.08027486	0.18146	0.053326912	0.10074	0.08027486	0.18145	-3.172	0.15959	T	.	.	0.072	0.06295	B	.;.;.	.;.;.	0.912022	0.12864	9.377	0.9711074812602033	0.32409	0.03569	0.08779	N	AEFBI	0.066185	0.12948	N	-0.822676152049629	0.12732	0.6224954	-0.894824991675551	0.12216	0.627079	9.88824216422676E-4	0.08091	0.553676	0.25195	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.9	1.81	0.24139	0.251000	0.18025	1.893000	0.29531	0.618000	0.50648	0.000000	0.06391	0.010000	0.20010	0.019000	0.11356	0.2277:0.0:0.7723:0.0	6.211	0.19841	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	559.43	41	chr22	43716966	.	G	A	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.252;DP=380;ExcessHet=0;FS=15.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.119;SOR=0.029	GT:AD:DP:GQ:PL	0/1:16,24:40:99:571,0,600	9	0	1	0
chr22	44845325	44845325	C	G	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon8:c.C653G:p.T218R,ARHGAP8:NM_181335:exon8:c.C653G:p.T218R,ARHGAP8:NM_001017526:exon9:c.C746G:p.T249R,PRR5-ARHGAP8:NM_181334:exon11:c.C1046G:p.T349R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00539301862585	.	0.000399361	0.0002	9.615e-05	0	0	0	0	0	0.0011	0.0001358	21	154602	rs145431642	8.346e-05	8.345e-05	5.989e-05	0.0001	0.0011	7.136e-05	6.684e-05	0.0009	0.0009	8.961e-05	4.472e-05	0	0	0	0.0003	1.529e-05	3.312e-05	0.0011	5.91e-05	5.906e-05	6.425e-05	5.373e-05	0.0010	3.076e-05	2.209e-05	0.0004	0.0003	2.407e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0010	0.386	0.16358	T	0.342	0.20293	T	0.69	0.66517	P	0.289	0.64797	B	0.006145	0.32237	U	0.000000	0.844081	0.28590	N	0.49	0.13296	N	2.24	0.17923	T	-1.75	0.45949	N	0.674	0.68169	-1.0352	0.18794	T	0.033	0.14334	T	10	0.09463295	0.16840	T	0.005393	0.13832	T	0.154	0.40340	0.461	0.52916	0.18274738541	0.17906	0.5818524812085284	0.62814	.	.	0.554955005646	0.46555	T	0.033028	0.22741	T	-0.316806	0.07162	T	-0.288444	0.45936	T	0.0476152077317238	0.05074	T	0.844516	0.53646	T	0.17005074	0.37557	0.25028655	0.50616	0.17005074	0.37557	0.25028655	0.50615	-4.614	0.36633	T	.	.	0.101	0.36712	B	.;.;.;.;.	.;.;.;.;.	4.014833	0.59257	24.1	0.99079652325223466	0.51930	0.69534	0.34226	D	AEFDBI	0.233224	0.35618	N	-0.320652415185496	0.28364	1.563885	-0.212445041178614	0.31088	1.756168	0.991232278584707	0.32418	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	1.581000	0.36167	2.808000	0.34891	0.599000	0.40250	0.877000	0.30928	0.994000	0.32194	0.839000	0.39591	0.0:1.0:0.0:0.0	13.059	0.58404	987	0.02648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein 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	.	.	.	.	.	.	.	.	0.05	677.43	35	chr22	44845325	.	C	G	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=401;ExcessHet=0;FS=4.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.35;SOR=1.21	GT:AD:DP:GQ:PL	0/1:61,29:90:99:689,0,1381	9	0	1	0
chr22	46260510	46260510	T	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A2813T:p.D938V	.	.	.	.	.	.	.	.	.	.	.	3572691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0124996695879	0.0012	0.000199681	0.0002	0.0019	0	0	0	0	0	0	0.0001358	21	154602	rs148751289	8.072e-05	8.209e-05	9.937e-05	6.188e-05	0.0027	6.868e-05	6.42e-05	0.0022	0.0021	0.0027	6.708e-05	0	0	0	0.0003	0	0.0004	1.159e-05	0.0007	0.0007	0.0007	0.0006	0.0023	0.0006	0.0005	0.0020	0.0018	0.0023	0	0.0004	0	0	0	0	0	0.0005	0	0.092	0.31682	T	0.051	0.47828	T	0.091	0.25247	B	0.024	0.20255	B	0.595970	0.11004	N	0.787491	0.999999	0.08975	N	1.525	0.38595	L	1.12	0.38718	T	-2.54	0.55025	D	0.232	0.26111	-1.0200	0.23715	T	0.081	0.32090	T	10	0.010771632	0.00238	T	0.013	0.31128	T	0.030	0.07022	.	.	0.308904156042	0.30501	0.6299400935212984	0.62928	.	.	0.247323602438	0.03491	T	0.346529	0.71477	T	-0.560583	0.00252	T	-0.583253	0.14255	T	0.00533656173736405	0.00058	T	0.39826	0.10085	T	0.11565282	0.27288	0.08455849	0.19460	0.11565282	0.27287	0.08455849	0.19460	-3.13	0.11644	T	.	.	0.127	0.27100	B	.	.	0.683604	0.10520	7.234	0.69287760366046658	0.08924	0.04816	0.10540	N	AEFBI	0.063615	0.12304	N	-1.0075160222352	0.08447	0.3960936	-1.05123531729038	0.08681	0.4280391	0.988538528921663	0.31548	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.33	0.405	0.15579	0.153000	0.16140	0.112000	0.14796	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.1931:0.29:0.5169	8.006	0.29484	939	0.14249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1711.43	35	chr22	46260510	.	T	A	1711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.222;DP=977;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.097;SOR=0.731	GT:AD:DP:GQ:PL	0/1:92,73:165:99:1723,0,2434	9	0	1	0
chr22	46262850	46262850	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C473T:p.P158L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0081869	0	0	0	.	0	0	0	.	0.0021899	57	26028	rs535999056	0.0006	0.0005	0.0006	0.0005	0.0251	0.0006	0.0005	0.0234	0.0227	0.0251	0.0016	0	0	0	0.0008	9.074e-06	0.0018	5.256e-05	0.0063	0.0062	0.0070	0.0056	0.0218	0.0060	0.0058	0.0206	0.0202	0.0218	0	0.0019	0	0	0	0	1.502e-05	0.0039	0	0.358	0.11994	T	0.04	0.50809	D	0.004	0.12183	B	0.004	0.10090	B	0.058426	0.02110	N	2.293200	1	0.08975	N	0	0.06538	N	1.25	0.36512	T	-0.19	0.09965	N	0.054	0.02559	-1.0333	0.19395	T	0.036	0.15640	T	10	0.0038966835	0.00074	T	.	.	.	0.022	0.04323	.	.	0.152612264143	0.14878	0.12178686994108999	0.12105	.	.	0.728449046612	0.71280	T	0.093589	0.39242	T	-0.680644	0.00048	T	-0.733555	0.04169	T	0.156881481409073	0.17638	T	0.352565	0.07917	T	0.029211916	0.02380	0.0436498	0.05476	0.029211916	0.02380	0.0436498	0.05476	-2.956	0.09715	T	.	.	0.139	0.30529	B	.	.	0.400247	0.07713	4.393	0.80217543067494157	0.13099	0.02793	0.07509	N	AEFDBCI	0.036549	0.04886	N	-1.47302741418062	0.02042	0.08976276	-1.57619902165922	0.01801	0.08202044	0.999999986387083	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.33	-6.67	0.01618	0.416000	0.20918	-0.278000	0.10292	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0959:0.2589:0.2761:0.3691	2.308	0.03923	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000885	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	90.56	5	chr22	46262850	.	G	A	90.56	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0635;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.24;SOR=1.022	GT:AD:DP:GQ:PL	0/1:6,3:9:99:102,0,183	9	0	1	0
chr22	46535334	46535334	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G1837A:p.G613R,CELSR1:NM_014246:exon1:c.G1837A:p.G613R	.	.	.	.	.	.	.	.	.	.	.	3303853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.100319960599	0.0002	.	6.841e-05	0.0008	0	0	0	0	0	0	5.17e-05	8	154602	rs143033156	3.63e-05	3.694e-05	4.498e-05	2.754e-05	0.0009	2.832e-05	2.568e-05	0.0007	0.0006	0.0009	6.71e-05	0	0	0	0	8.993e-07	0.0003	1.159e-05	0.0003	0.0003	0.0004	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0004	0	0	0	0	0	0.0005	0	0.006	0.61437	D	0.012	0.63918	D	0.263	0.31569	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	1.545	0.39105	L	-0.35	0.68616	T	-1.36	0.33798	N	0.27	0.30574	-0.8703	0.50506	T	0.202	0.55850	T	9	0.05043149	0.04775	T	0.10032	0.77252	D	0.052	0.14661	0.497	0.58678	0.439949123286	0.43613	0.476051785479342	0.47525	1.93016318214	0.93125	0.509177863598	0.40107	T	0.157818	0.50058	T	-0.380978	0.03072	T	-0.403057	0.33028	T	0.0198681116057246	0.00689	T	0.633137	0.24745	T	0.13051149	0.30450	0.11785879	0.28451	0.13051149	0.30449	0.11785879	0.28450	-4.302	0.28205	T	.	.	0.130	0.27791	B	.	.	2.543064	0.32903	19.18	0.99442253785875967	0.64820	0.24376	0.22374	N	AEFDBCI	0.118475	0.23165	N	-0.609805794255696	0.18649	0.9698817	-0.656948126538891	0.18041	0.9620416	0.999803647244683	0.43304	0.609539	0.35627	0	0.588066	0.40923	0	0.493711	0.08198	1	0.586402	0.36253	0	.	.	4.63	3.61	0.40494	1.755000	0.38008	2.347000	0.32290	0.433000	0.20966	0.084000	0.22438	0.269000	0.24035	0.003000	0.05239	0.1742:0.7333:0.0:0.0925	6.776	0.22806	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	813.43	71	chr22	46535334	.	C	T	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.527;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.745;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,32:64:99:825,0,793	9	0	1	0
chr22	49904452	49904452	G	C	exonic	ALG12	.	nonsynonymous SNV	ALG12:NM_024105:exon8:c.C1047G:p.I349M	Congenital disorder of glycosylation, type Ig	0	1517	5	0	0	5	0.00164528	.	.	.	1547680	ALG12-congenital_disorder_of_glycosylation	MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00856137026006	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0016	0.0002781	43	154602	rs182006999	0.0001	0.0001	8.848e-05	0.0002	0.0021	0.0001	0.0001	0.0014	0.0014	2.987e-05	2.236e-05	0	0	0	0.0021	4.766e-05	0.0001	0.0017	7.224e-05	7.218e-05	1.285e-05	0.0001	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	0	0	0	0	0	0.0003	0.0034	1.47e-05	0	0.0012	0.123	0.27544	T	0.094	0.39645	T	0.26	0.31497	B	0.207	0.37187	B	0.400203	0.13135	N	0.707951	1	0.08975	N	1.585	0.39878	L	-0.07	0.63738	T	-1.11	0.28703	N	0.215	0.24010	-1.0767	0.08003	T	0.061	0.25383	T	10	0.012331128	0.00265	T	0.008561	0.22631	T	0.111	0.31313	.	.	0.17948927462	0.17512	0.5176862772715713	0.51691	0.248513406715	0.27412	0.277180492878	0.07102	T	0.093122	0.39147	T	-0.489112	0.00657	T	-0.494366	0.22934	T	0.0353767079927297	0.02872	T	0.662434	0.27137	T	0.06713221	0.14508	0.061813682	0.11996	0.06713221	0.14508	0.061813682	0.11996	-4.43	0.29961	T	0.2191416735944042	0.29522	0.073	0.04681	B	.	.	-2.106206	0.00080	0.001	0.82895025659052868	0.14432	0.02145	0.06315	N	AEFBI	0.051189	0.09019	N	-1.45694317415716	0.02163	0.09519366	-1.72847761038609	0.01017	0.04560119	0.999999989191555	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.77	-9.54	0.00481	-4.502000	0.00258	-15.955000	0.00333	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.249000	0.23237	0.2083:0.1843:0.3701:0.2373	1.528	0.02377	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1280.43	40	chr22	49904452	.	G	C	1280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.327;SOR=0.709	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1292,0,1081	9	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5625.99	88	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5625.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.35;DP=718;ExcessHet=0.0135;FS=5.172;InbreedingCoeff=0.5238;MLEAC=2;MLEAF=0.1;MQ=59.91;MQRankSum=0;QD=15.85;ReadPosRankSum=-1.306;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,29:83:99:0|1:49922284_CG_C:3213,1616,1452:49922284	8	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	12080.7	73	chr22	49922304	.	C	*	12080.7	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.08;DP=764;ExcessHet=0.0952;FS=0.682;InbreedingCoeff=0.3407;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=1.16;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,54:83:99:1|1:49922284_CG_C:2562,212,0:49922284	6	2	2	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1333.4	73	chr22	49922325	.	G	*	1333.4	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.44;DP=700;ExcessHet=0;FS=4.378;InbreedingCoeff=0.5821;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-0.434;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,54:83:99:1|1:49922284_CG_C:2562,212,0:49922284	6	2	0	2
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	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	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.05	1858.43	46	chr22	50217099	.	G	A	1858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=548;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.708;SOR=0.531	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1870,0,2212	9	0	1	0
chr22	50556402	50556402	C	A	exonic	SYCE3	.	nonsynonymous SNV	SYCE3:NM_001123225:exon2:c.G4T:p.D2Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0467710545259	0.0022	0.00139776	0.0009	0.0073	0.0024	0	0	0.0001	0	0.0001	0.0002264	35	154602	rs138319189	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0067	0.0064	0.0074	0.0003	0	0	0	0.0005	1.855e-06	0.0006	2.525e-05	0.0024	0.0024	0.0024	0.0024	0.0083	0.0022	0.0021	0.0076	0.0073	0.0083	0	0.0008	0	0	0	0.0034	1.47e-05	0.0028	0	0.031	0.45039	D	0.084	0.41239	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.994951	0.42484	D	.	.	.	0.77	0.49642	T	-1.15	0.29525	N	0.198	0.23632	-0.8930	0.48668	T	0.092	0.35038	T	8	0.0062077343	0.00140	T	0.046771	0.62615	D	0.063	0.18251	.	.	0.576212830723	0.57290	0.7573529543399594	0.75683	.	.	0.7505235672	0.74524	T	0.124591	0.44973	T	-0.510762	0.00497	T	-0.499201	0.22430	T	0.00789776804348384	0.00093	T	0.322368	0.06563	T	0.2315951	0.45933	0.24911918	0.50476	0.2315951	0.45933	0.24911918	0.50475	-4.979	0.36611	T	.	.	0.131	0.28086	B	.;.	.;.	3.652430	0.51842	23.2	0.63868491206143085	0.07338	0.96834	0.71191	D	AEFBI	0.645644	0.62146	D	-0.0300852706319451	0.40498	2.405935	0.104705550443986	0.44787	2.753898	0.994419781520435	0.33626	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	5.117000	0.64504	7.331000	0.58204	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:1.0:0.0:0.0	16.931	0.86060	584	0.69381	.;.	.	.	.	.	.	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	0.001217	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1445.43	33	chr22	50556402	.	C	A	1445.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.065;SOR=0.716	GT:AD:DP:GQ:PL	0/1:29,56:85:99:1457,0,667	9	0	1	0
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	633.39	78	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	633.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=1063;ExcessHet=0;FS=1.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.05;MQRankSum=5.29;QD=3.37;ReadPosRankSum=-0.913;SOR=0.859	GT:AD:DP:GQ:PL	0/1:109,79:188:99:645,0,4171	9	0	1	0
chrX	7843869	7843869	C	0	exonic	VCX	.	.	.	.	476	994	38	2	12	54	0.0206897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	255.58	255	chrX	7843869	.	C	*	255.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.792;DP=1214;ExcessHet=0.2348;FS=6.483;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=41.71;MQRankSum=1.51;QD=0.63;ReadPosRankSum=2.77;SOR=0.375	GT:AD:DP:GQ:PL	0/1:44,79:148:99:766,0,2203	9	0	1	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	49411.6	293	chrX	7843976	.	C	*	49411.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=2757;ExcessHet=1.5895;FS=0.561;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=50.26;MQRankSum=-10.23;QD=18.45;ReadPosRankSum=1.56;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,78:147:99:.:.:4876,2088,2493:.	8	0	2	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,12:68:99:0|1:10469688_G_A:131,0,1922:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,14:70:99:0|1:10469688_G_A:144,0,1917:10469688	2	0	8	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,14:68:99:0|1:10469688_G_A:150,0,1889:10469688	5	0	5	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	980.93	116	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*	980.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.6;DP=702;ExcessHet=0.0405;FS=2.962;InbreedingCoeff=0.5699;MLEAC=2;MLEAF=0.1;MQ=59.9;MQRankSum=0;QD=11.96;ReadPosRankSum=1.75;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:39:1|1:24364309_GCTC_G:410,39,0:24364309	9	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	891.6	89	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	891.6	.	AC=5;AF=0.313;AN=16;BaseQRankSum=0.018;DP=696;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.3406;MLEAC=6;MLEAF=0.375;MQ=59.94;MQRankSum=0;QD=5.24;ReadPosRankSum=3.95;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,12:12:67:.:.:889,67,0:.	5	2	1	2
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.3	7136.92	35	chrX	44232585	.	C	T	7136.92	.	AC=6;AF=0.3;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=29.01;SOR=0.76	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2292,231,0	7	3	0	0
chrX	49248482	49248482	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon11:c.G1288A:p.A430T	Ritscher-Schinzel syndrome 2, X-linked recessive	420	1072	18	12	0	42	0.0192132	.	.	.	101446	Ritscher-Schinzel_syndrome_2|not_specified|not_provided	MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0053	0.00582781	0.0082	0.0008	0.0022	0	0.0221	0.0117	0.0114	0.0042	0.007225	1117	154602	rs144632022	0.0078	0.0078	0.0079	0.0077	0.0247	0.0077	0.0076	0.0209	0.0194	0.0011	0.0036	0.0105	0	0.0186	0.0247	0.0081	0.0080	0.0040	0.0060	0.0061	0.0062	0.0054	0.0082	0.0056	0.0054	0.0076	0.0073	0.0012	0	0.0044	0.0083	0.0003	0.0179	0.0092	0.0082	0.0059	0.0019	0.152	0.24468	T	0.537	0.09863	T	0.992	0.64738	D	0.666	0.52990	P	0.004755	0.33426	N	0.310015	0.553096	0.31318	N	2.25	0.63811	M	.	.	.	-0.65	0.18877	N	0.1	0.08227	-0.7477	0.58055	T	0.129	0.43767	T	9	0.008079827	0.00183	T	.	.	.	0.181	0.45247	.	.	0.704060556882	0.70149	0.04173131593554087	0.04118	0.440805406712	0.44083	0.524738907814	0.42294	T	0.205176	0.56416	T	-0.355553	0.04388	T	-0.276539	0.47159	T	0.0165678910958323	0.00418	T	0.925307	0.72522	D	0.14986268	0.34145	0.18517926	0.41615	0.14986268	0.34144	0.18517926	0.41614	-5.044	0.37314	T	0.2009483441160326	0.26683	0.094	0.14293	B	.	.	3.193679	0.43402	21.7	0.99910940227758416	0.98022	0.94361	0.60920	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99996077201853	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	4.632000	0.61009	7.481000	0.59259	0.672000	0.70159	0.991000	0.37257	1.000000	0.68203	0.836000	0.39433	0.0:0.1609:0.8391:0.0	12.854	0.57257	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.020862	0.013605	0.016760	0.015810	0.071429	0.000000	0.053097	0.010526	0.15	1628.43	37	chrX	49248482	.	G	A	1628.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.63;DP=423;ExcessHet=0;FS=1.409;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.611;SOR=0.871	GT:AD:DP:GQ:PL	1/1:0,32:32:96:968,96,0	8	1	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1034.14	541	chrX	55146088	.	G	T	1034.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.883;DP=4997;ExcessHet=0.2348;FS=0.83;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.338;SOR=0.881	GT:AD:DP:GQ:PL	0/1:438,68:506:99:738,0,14107	8	0	2	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:65,476:541:99:14528,0,244	0	2	8	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:348,102:450:99:1974,0,10418	2	0	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:52,344:409:99:10700,0,318	0	1	9	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/1:219,97:316:99:1952,0,7336	5	0	5	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,32:303:99:0|1:55146247_G_C:453,0,11156:55146247	3	0	7	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:229,31:286:99:.:.:481,0,9929:.	3	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:76,199:275:99:5859,0,2363	0	1	9	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,28:274:99:0|1:55146247_G_C:435,0,10226:55146247	3	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:41,166:207:99:5028,0,1089	0	1	9	0
chrX	71132486	71132486	C	A	exonic	MED12	.	nonsynonymous SNV	MED12:NM_005120:exon31:c.C4363A:p.Q1455K	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.241700162124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20683	T	0.008	0.67890	D	0.369	0.53992	B	0.228	0.53582	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.735	0.44892	L	-1.72	0.83241	D	-1.68	0.40082	N	0.447	0.48504	0.215	0.86169	D	0.573	0.84590	D	10	0.31668365	0.49087	T	0.242	0.88728	D	0.388	0.70440	0.18	0.08751	0.860353500639	0.85900	0.6648393513809717	0.66420	1.85016524394	0.92279	0.762914896011	0.76364	T	0.063556	0.76455	T	0.0957126	0.63826	D	-0.100292	0.63375	T	0.916253924369812	0.57361	D	0.952405	0.81824	D	0.70098966	0.78111	0.48342672	0.70093	0.70098966	0.78112	0.48342672	0.70093	-9.551	0.71176	D	0.3797417666767791	0.47431	0.486	0.63946	A	.;.;.	.;.;.	6.355741	0.95072	34	0.98931499766976383	0.48750	0.99687	0.98670	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999996063	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	4.15	0.47978	7.562000	0.81274	7.712000	0.66855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.180	0.81711	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	30.43	43	chrX	71132486	.	C	A	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.414;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.715;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,2:16:42:0|1:71132486_C_A:42,0,559:71132486	9	0	1	0
chrX	71132508	71132508	G	A	exonic	MED12	.	nonsynonymous SNV	MED12:NM_005120:exon31:c.G4385A:p.R1462H	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	3989180	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0532773367809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-07	9.105e-07	1.368e-06	0	1.199e-06	0	0	.	.	0	0	0	0	0	0	1.199e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.48642	D	0.016	0.62352	D	0.999	0.77913	D	0.793	0.65636	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.57	0.29342	T	-2.3	0.51157	N	0.189	0.22486	-0.9772	0.35638	T	0.118	0.41429	T	10	0.33247966	0.50453	T	0.053277	0.65404	D	0.189	0.46613	0.177	0.08379	0.570812337038	0.56747	0.2729233534793469	0.27205	2.73687855107	0.98670	0.808748006821	0.83301	D	0.06368	0.77069	T	-0.0744537	0.40612	T	-0.344724	0.39809	T	0.97456431388855	0.70561	D	0.782222	0.44648	T	0.51946896	0.68229	0.37043124	0.62293	0.51946896	0.68230	0.37043124	0.62292	-8.153	0.62392	D	0.1870124154972805	0.24366	0.479	0.65798	A	.;.;.	.;.;.	4.671454	0.74661	26.2	0.9993576874508725	0.99579	0.98980	0.89484	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999996063	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	4.15	0.47978	5.550000	0.66974	3.576000	0.39140	0.676000	0.76740	1.000000	0.71638	0.822000	0.27135	0.996000	0.76049	0.0:0.0:1.0:0.0	16.180	0.81711	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	36.43	43	chrX	71132508	.	G	A	36.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:71132486_C_A:48,0,498:71132486	9	0	1	0
chrX	136874454	136874454	T	A	splicing	RBMX	NM_002139:exon9:c.866-2A>T	.	.	.	445	1073	4	0	0	4	0.00186047	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430362735	0	1.5e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176775	0.71745	D	0.016149	0.71380	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.960501	0.95966	35	0.98945982966482604	0.49036	0.99128	0.91637	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999999548	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.876862	0.54422	5.32	5.32	0.75377	7.890000	0.85834	6.026000	0.52860	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.535	0.67543	681	0.59854	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.43	33	chrX	136874454	.	T	A	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.306;DP=343;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.48;MQRankSum=-4.924;QD=1.9;ReadPosRankSum=-3.097;SOR=2.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,3:26:59:0|1:136874454_T_*:59,0,913:136874454	9	0	1	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1	4019.12	37	chrX	154532990	.	C	T	4019.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.99;ReadPosRankSum=-1.073;SOR=0.365	GT:AD:DP:GQ:PL	1/1:1,133:134:99:4042,392,0	9	1	0	0