Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES968	WT	HH	HZ	NC
chr1	1334294	1334294	G	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon6:c.G2389A:p.A797T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.14	B	0.029	B	0.755	N	1.000	N	0.48	N	-2.58	D	-0.609	T	0.436	T	0.197	-0.126	3.382	0.66	-0.015	1.483	8.494	0.142	0.0594219300049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs147583678	1.028e-05	1.026e-05	8.178e-06	1.24e-05	0.0002	6.17e-06	4.89e-06	0.0001	8.677e-05	0.0002	0	0	2.522e-05	0	0	4.5e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.566	0.08930	T	0.14	0.27540	B	0.029	0.21540	B	0.755105	0.09669	N	0.893166	0.999994	0.08975	N	1.57	0.39626	L	-2.58	0.89757	D	-1.23	0.31170	N	0.098	0.07949	-0.6093	0.64433	T	0.436	0.77618	T	10	0.17795497	0.32855	T	0.059422	0.67659	D	0.142	0.37995	0.657	0.79482	0.585991418203	0.58272	0.3341795588107588	0.33330	.	.	0.220033034682	0.01312	T	0.212283	0.57328	T	-0.128951	0.31666	T	-0.253878	0.49434	T	0.0541126900571838	0.06208	T	0.719228	0.33234	T	0.16876955	0.37354	0.13909593	0.33198	0.16876955	0.37354	0.13909593	0.33197	-6.286	0.48611	T	.	.	0.113	0.22391	B	.	.	0.855099	0.12271	8.815	0.83169476397282949	0.14579	0.59660	0.30977	D	AEFDBCI	0.068336	0.13476	N	-0.723106417111171	0.15374	0.7741898	-0.704580083227927	0.16847	0.8931101	0.999646589612595	0.41316	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.59	0.66	0.17038	1.325000	0.33330	1.180000	0.24688	0.662000	0.56354	0.716000	0.28781	0.814000	0.27065	0.076000	0.17014	0.42:0.0:0.58:0.0	8.494	0.32277	779	0.47767	GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2074.98	47	chr1	1334294	.	G	A	2074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=1306;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-2.910e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:81,78:159:99:2089,0,1991	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,3:18:66:0|1:3836468_G_GT:66,0,419:3836468	7	0	6	8
chr1	6418889	6418889	A	G	exonic	HES2	.	nonsynonymous SNV	HES2:NM_019089:exon4:c.T506C:p.L169P,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.971	D	0.641	P	0.000	D	1.000	D	1.04	L	0.16	T	-0.779	T	0.184	T	0.48	2.757	15.18	4.92	1.985	1.896	11.258	0.179	0.172082817025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.062	0.45318	T	0.971	0.57185	D	0.641	0.52117	P	0.000318	0.45977	D	0.186253	1	0.81001	D	1.845	0.48678	L	0.16	0.60610	T	-0.27	0.11366	N	0.209	0.23253	-0.7790	0.56359	T	0.184	0.53285	T	10	0.29497874	0.47067	T	0.172083	0.84917	D	0.179	0.44899	0.395	0.42099	0.809292224219	0.80750	0.5054138067785604	0.50463	2.47001581911	0.97475	0.763432502747	0.76441	T	0.067009	0.33090	T	-0.0218713	0.48586	T	-0.269193	0.47901	T	0.861974358558655	0.51232	D	0.30147	0.05685	T	0.33706868	0.56045	0.41782895	0.65825	0.33706868	0.56045	0.41782895	0.65825	-4.822	0.34847	T	.	.	0.141	0.30842	B	.	.	3.869488	0.56167	23.7	0.98882049466569699	0.47841	0.82053	0.41341	D	AEFDBI	0.348010	0.44229	N	0.252567326900924	0.53764	3.54411	0.261161464645306	0.53285	3.498332	0.999999479220745	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	4.92	4.92	0.64147	1.488000	0.35160	10.696000	0.83585	0.751000	0.87719	0.624000	0.27948	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	11.258	0.48295	829	0.39537	.	.	.	.	.	.	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	0.02381	440.98	34	chr1	6418889	.	A	G	440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.709e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:21,20:41:99:455,0,553	20	0	1	0
chr1	12893418	12893418	C	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon4:c.G923A:p.R308Q,	.	.	533	987	2	0	0	2	0.00101215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.029	B	0.004	B	0.160	N	1.000	N	1.385	L	2.92	T	-0.976	T	0.027	T	0.207	0.745	7.952	0.118	0.191	-1.754	.	0.025	0.00186055025547	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222248348	0.0013	0.0025	0.0014	0.0011	0.0084	0.0012	0.0012	0.0076	0.0073	0.0084	0.0081	0.0016	0.0057	7.494e-05	0.0002	0.0007	0.0015	0.0006	0.0034	0.0067	0.0037	0.0032	0.0078	0.0032	0.0031	0.0066	0.0062	0.0071	0	0.0078	0.0006	0.0063	0.0007	0	0.0010	0.0024	0.0002	0.047	0.40319	D	0.17	0.30436	T	0.029	0.19866	B	0.004	0.10090	B	0.160214	0.03033	N	1.863970	1	0.08975	N	1.74	0.45129	L	2.92	0.09915	T	0.74	0.02038	N	0.037	0.01135	-0.9758	0.35948	T	0.027	0.11529	T	9	0.0068725646	0.00156	T	0.001861	0.03245	T	0.025	0.05312	0.5	0.59147	0.043077524339	0.03247	0.12019080704679257	0.11946	.	.	0.42577418685	0.28630	T	0.027798	0.20277	T	-0.326816	0.06355	T	-0.707225	0.05440	T	0.0116995585429261	0.00179	T	.	.	.	0.036324758	0.04446	0.04383545	0.05543	0.036324758	0.04446	0.04383545	0.05543	-4.08	0.24994	T	.	.	0.083	0.09433	B	.	.	-0.402195	0.02204	0.220	0.93064880838956954	0.22678	0.00171	0.01011	N	AEFI	0.024931	0.01623	N	-1.06655702787066	0.07267	0.3370423	-1.20122448548568	0.05891	0.2819779	1.11536234223363E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.118	0.118	0.13972	-3.580000	0.00474	-4.555000	0.02097	-2.542000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	81.98	187	chr1	12893418	.	C	T	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.23;DP=2906;ExcessHet=0.0000;FS=24.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.39;MQRankSum=-4.760e+00;QD=0.39;ReadPosRankSum=-2.287e+00;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,17:208:96:0|1:12893418_C_T:96,0,7727:12893418	20	0	1	0
chr1	13308385	13308385	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.G923A:p.R308Q,	.	.	625	891	5	1	0	7	0.0039128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0105831	.	.	.	.	.	.	.	.	0.0039957	104	26028	rs201293819	0.0054	0.0065	0.0059	0.0049	0.0371	0.0053	0.0052	0.0355	0.0348	0.0186	0.0371	0.0051	0.0130	0.0012	0.0023	0.0037	0.0054	0.0027	0.0058	0.0091	0.0062	0.0055	0.0112	0.0054	0.0053	0.0102	0.0099	0.0112	0	0.0102	0.0023	0.0100	0.0018	0	0.0021	0.0039	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006362945	0.00144	T	.	.	.	.	.	.	.	.	.	0.13498317028107204	0.13422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024626588	0.01313	0.052157898	0.08539	0.024626588	0.01313	0.052157898	0.08539	-3.873	0.21898	T	.	.	0.086	0.10835	B	.	.	-0.412888	0.02164	0.211	0.41852557287589442	0.03046	0.00089	0.00592	N	AEFI	.	.	.	.	.	.	.	.	.	4.4019616183451E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-1.64	0.07874	-2.491000	0.01050	-20.000000	0.00162	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4362:0.2997:0.2641	2.751	0.04956	.	.	.	.	.	.	.	.	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	0.02381	55.98	26	chr1	13308385	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=895;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.77;MQRankSum=-6.600e-01;QD=1.40;ReadPosRankSum=0.327;SOR=0.858	GT:AD:DP:GQ:PL	0/1:35,5:40:70:70,0,829	20	0	1	0
chr1	13319928	13319928	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.G850A:p.E284K,	.	.	425	1054	42	1	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.129	B	0.024	B	0.939	N	1.000	N	.	.	0.88	T	-1.027	T	0.050	T	0.104	-0.196	3.047	-0.555	-0.187	-0.272	3.390	0.030	0.0182011696665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333390099	0.0071	0.0071	0.0059	0.0083	0.0404	0.0070	0.0069	0.0393	0.0388	0.0018	0.0216	0.0121	0.0117	0.0010	0.0214	0.0039	0.0083	0.0404	0.0057	0.0057	0.0052	0.0061	0.0386	0.0053	0.0052	0.0341	0.0323	0.0012	0	0.0130	0.0118	0.0110	0.0006	0.0272	0.0045	0.0057	0.0386	0.393	0.10730	T	0.449	0.12993	T	.	.	.	.	.	.	0.938865	0.07582	N	1.029020	1	0.08975	N	.	.	.	0.88	0.46028	T	-2.41	0.52938	N	0.173	0.18512	-0.9983	0.30395	T	0.075	0.30179	T	8	0.007114768	0.00162	T	0.001884	0.03299	T	.	.	.	.	.	.	0.3100785271206615	0.30920	.	.	0.656455397606	0.60903	T	.	.	.	-0.362263	0.04004	T	-0.758142	0.03179	T	0.0349611403695616	0.02802	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29032	B	.	.	0.598594	0.09668	6.442	0.62318011989786293	0.06932	0.00198	0.01140	N	AEFI	0.024876	0.01611	N	-0.896977969004185	0.10913	0.523947	-1.12355754252348	0.07251	0.3520434	1.68618632731461E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-1.57	0.08055	-0.459000	0.06805	-20.000000	0.00162	-1.244000	0.01310	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6127:0.0:0.3873:0.0	4.573	0.11612	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6058.11	40	chr1	13319928	.	G	A	6058.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.21;DP=1983;ExcessHet=0.1072;FS=0.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.82;MQRankSum=2.54;QD=11.65;ReadPosRankSum=2.59;SOR=0.622	GT:AD:DP:GQ:PL	0/1:131,117:248:99:2912,0,2879	19	0	2	0
chr1	16027354	16027354	C	T	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon7:c.C571T:p.R191W	Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	2282218	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.000	N	0.916	N	0.845	L	-3.6	D	-0.344	T	0.610	D	0.231	1.490	10.93	3.02	0.367	1.071	5.101	0.298	0.0653688534512	0.0002	.	0.0001	0.0002	0	0.0001	0.0002	7.534e-05	0	0.0003	3.84e-05	1	26028	rs147305058	9.512e-05	0.0001	7.625e-05	0.0001	0.0003	8.204e-05	7.719e-05	0.0002	0.0002	5.977e-05	0	0	0.0001	1.873e-05	0	9.353e-05	4.971e-05	0.0003	8.535e-05	8.529e-05	0.0001	6.714e-05	0.0002	4.953e-05	3.96e-05	4.727e-05	3.045e-05	0.0001	0	0.0001	0	0	9.411e-05	0	4.41e-05	0.0005	0.0002	0.294	0.14793	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.000349	0.45440	N	0.189554	0.915806	0.27406	N	0.845	0.21182	L	-3.6	0.95009	D	-3.37	0.66665	D	0.397	0.43899	-0.3437	0.73736	T	0.610	0.86191	D	10	0.18840632	0.34394	T	0.065369	0.69559	D	0.298	0.61843	.	.	0.71446170501	0.71196	0.48198151029303576	0.48118	0.360313599226	0.37710	0.774693012238	0.78128	T	0.735192	0.92620	D	-0.209351	0.19471	T	-0.233947	0.51387	T	0.0991556743188312	0.12264	T	0.628437	0.29175	T	0.17766196	0.38744	0.12798724	0.30799	0.17766196	0.38743	0.12798724	0.30798	-3.801	0.20820	T	0.308008793186472	0.40577	0.040	0.00505	B	.;.;.	.;.;.	3.325334	0.45750	22.2	0.9644573858084603	0.29844	0.34553	0.25095	N	AEFDBCI	0.482359	0.52326	N	-0.719776736882525	0.15467	0.779684	-0.586489944808277	0.19844	1.066571	0.986475006955165	0.31070	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.542086	0.14980	0	.	.	3.02	3.02	0.33970	1.113000	0.30798	1.717000	0.28234	-0.496000	0.05032	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.4019:0.0:0.5981	5.101	0.14093	438	0.80235	.;.;.	.	.	.	.	.	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	0.02381	2828.98	37	chr1	16027354	.	C	T	2828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=959;ExcessHet=0.0000;FS=1.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.90;MQRankSum=-8.041e+00;QD=11.94;ReadPosRankSum=0.103;SOR=0.826	GT:AD:DP:GQ:PL	0/1:129,108:237:99:2843,0,3163	20	0	1	0
chr1	16198636	16198636	T	C	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon16:c.A2360G:p.N787S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.017	B	0.044	B	0.020	N	0.520	D	0.695	N	-0.02	T	-1.021	T	0.109	T	0.06	3.324	17.18	-0.436	0.027	2.222	2.659	0.052	0.0107387688242	0.0002	.	9.123e-05	0	8.639e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs141643788	5.337e-05	5.336e-05	3.676e-05	7.015e-05	0.0009	4.345e-05	4.019e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0009	4.408e-05	9.939e-05	0.0002	7.224e-05	7.218e-05	3.856e-05	0.0001	0.0004	3.969e-05	3.126e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0	2.941e-05	0.0009	0	0.649	0.04864	T	0.92	0.02873	T	0.017	0.17573	B	0.044	0.24394	B	0.019882	0.27158	N	0.273467	0.519544	0.31885	D	1.7	0.43825	L	-0.44	0.69777	T	-0.2	0.10136	N	0.064	0.03613	-1.0206	0.23519	T	0.109	0.39439	T	10	0.033177406	0.01487	T	0.010739	0.27620	T	0.052	0.14661	.	.	0.636509788131	0.63352	0.32606561022083974	0.32519	0.206839020483	0.23117	0.431340008974	0.29391	T	0.002273	0.01671	T	-0.363359	0.03944	T	-0.50467	0.21864	T	0.256904274225235	0.23179	T	0.442656	0.12286	T	0.031241262	0.02928	0.028200973	0.01035	0.031241262	0.02928	0.028200973	0.01035	-2.961	0.09767	T	.	.	0.128	0.27222	B	.	.	2.264470	0.28940	17.96	0.99783784926786034	0.87043	0.77505	0.38115	D	AEFDBI	0.126630	0.24365	N	-0.628875718346679	0.18080	0.9358388	-0.50384859724853	0.22047	1.195661	0.0734316478526835	0.15634	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.37	-0.436	0.11663	1.942000	0.39870	1.064000	0.23746	0.665000	0.62972	0.979000	0.35152	0.936000	0.28664	0.692000	0.33898	0.1166:0.161:0.1323:0.5901	2.659	0.04714	223	0.91367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1150.98	45	chr1	16198636	.	T	C	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.83;SOR=0.658	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1165,0,1286	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:551,155:706:99:2899,0,15652	1	0	20	0
chr1	16575230	16575230	C	T	splicing	NBPF1	NM_017940:exon20:c.2120-1G>A	.	.	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0002	0.0006	0	0.0026	0.0010	0.0045	0.0006	3.84e-05	1	26028	rs746726956	0.0006	0.0008	0.0006	0.0006	0.0050	0.0006	0.0005	0.0034	0.0028	0.0002	0.0005	0.0002	0	0.0015	0.0050	0.0006	0.0006	0.0008	0.0005	0.0007	0.0004	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0.0019	0	0.0005	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.496789	0.00596	T	-0.95138	0.00258	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.436914	0.31360	18.72	0.59989536055262616	0.06355	0.03075	0.07989	N	AEFBI	.	.	.	.	.	.	.	.	.	6.26388582997185E-5	0.04366	0.235384	0.04156	2	0.264834	0.04865	2	0.068591	0.01938	0	0.117559	0.03655	0	0.0937527	0.21119	0.744	-0.366	0.11921	1.088000	0.30489	0.221000	0.16075	0.266000	0.18458	0.722000	0.28841	0.002000	0.18203	0.019000	0.11356	0.0:0.6756:0.0:0.3244	3.211	0.06285	442	0.79946	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1689.15	236	chr1	16575230	.	C	T	1689.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=5403;ExcessHet=0.0000;FS=2.812;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.024;MQ=44.80;MQRankSum=2.71;QD=4.39;ReadPosRankSum=1.27;SOR=0.865	GT:AD:DP:GQ:PL	0/1:298,87:385:99:1703,0,8174	20	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	.;.	.	.	.	.	.	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	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,89:305:99:.:.:2236,0,5987	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,12:47:99:0|1:16579293_A_G:385,0,1434:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,12:47:99:0|1:16579293_A_G:385,0,1434:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,10:45:99:0|1:16579305_G_A:301,0,1440:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,10:46:99:0|1:16579305_G_A:298,0,1468:16579305	8	0	13	0
chr1	16585649	16585649	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0064	0.0087	0.0063	0.0178	0.0172	0.0154	0.0063	3.84e-05	1	26028	rs758865423	0.0004	0.0031	0.0004	0.0004	0.0021	0.0004	0.0004	0.0010	0.0008	0.0002	4.516e-05	0.0002	0.0002	0.0002	0.0021	0.0005	0.0003	0.0003	0.0001	0.0006	0.0002	5.375e-05	0.0002	7.578e-05	6.282e-05	0.0001	8.889e-05	4.809e-05	0	6.54e-05	0	0	9.429e-05	0	0.0002	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	0.04762	1015.11	143	chr1	16585649	.	G	A	1015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3017;ExcessHet=0.1072;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=36.53;MQRankSum=1.83;QD=2.54;ReadPosRankSum=0.597;SOR=0.931	GT:AD:DP:GQ:PL	0/1:113,38:151:99:914,0,3170	19	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,9:9:27:321,27,0	2	7	12	0
chr1	20723708	20723708	G	A	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon7:c.C574T:p.R192W	.	.	428	1085	8	1	0	10	0.00458716	.	.	2320644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.0	B	0.774	N	1.000	N	1.39	L	-0.09	T	-0.900	T	0.179	T	0.138	1.999	12.64	3.26	0.742	0.799	7.287	0.092	0.0256937372941	.	0.000399361	0.0001	0.0004	9.104e-05	0	0	0.0001	0.0013	6.331e-05	0.00011	17	154602	rs184773097	7.599e-05	7.661e-05	6.267e-05	8.945e-05	0.0017	6.429e-05	6.009e-05	0.0009	0.0007	0.0001	0.0001	0	0	0	0.0017	6.565e-05	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.738e-05	8.253e-05	0.0003	0.0002	0.0004	0	6.534e-05	0	0	0	0.0034	4.41e-05	0	0	0.049	0.40319	D	0.004	0.76473	D	0.001	0.07471	B	0.0	0.01387	B	0.774152	0.09523	N	0.889887	1	0.08975	N	0.41	0.12415	N	-0.09	0.64086	T	-2.14	0.51478	N	0.192	0.23506	-0.9001	0.47983	T	0.179	0.52443	T	10	0.04716286	0.03998	T	0.025694	0.48656	D	0.092	0.26621	.	.	0.664261364525	0.66144	0.4127030852322649	0.41186	0.108086438741	0.12188	0.416991829872	0.27424	T	0.036275	0.24042	T	-0.379275	0.03149	T	-0.464506	0.26111	T	0.0171797717358758	0.00462	T	0.822518	0.48242	T	0.10921425	0.25821	0.09814666	0.23389	0.10921425	0.25821	0.09814666	0.23389	-4.674	0.33088	T	.	.	0.082	0.08948	B	.;.	.;.	2.451651	0.31569	18.78	0.99672656796190162	0.78717	0.08645	0.14545	N	AEFDBI	0.185480	0.31280	N	-0.625934922335048	0.18168	0.9410725	-0.610988096666351	0.19210	1.029701	0.999994367012376	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.15	3.26	0.36471	1.344000	0.33547	0.939000	0.22838	0.676000	0.76740	0.287000	0.25205	0.001000	0.17328	0.806000	0.37994	0.0904:0.1678:0.7418:0.0	7.287	0.25522	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	34	chr1	20723708	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=807;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.732;SOR=0.828	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1214,0,1416	20	0	1	0
chr1	21626348	21626348	G	A	exonic	RAP1GAP	.	stopgain	RAP1GAP:NM_001145658:exon3:c.C130T:p.R44X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	0.744	N	1.000	N	.	.	.	.	.	.	.	.	.	6.926	38	3.12	0.506	1.137	6.197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771440409	2.054e-06	2.052e-06	1.362e-06	2.752e-06	2.989e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.989e-05	0	0	0	0	0	1.8e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.743932	0.06444	N	1.194630	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.627	0.64137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35774	0.87080	D	0.276092	0.86912	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.899706	0.24129	16.28	0.99820891255720179	0.90414	0.06215	0.12202	N	AEFBI	0.131067	0.24986	N	0.267501474334186	0.54509	3.616322	-0.0193044531143741	0.38844	2.294375	0.999918858539854	0.45857	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.01	3.12	0.34986	1.121000	0.30897	3.176000	0.36634	0.676000	0.76740	0.004000	0.16614	0.381000	0.24616	0.968000	0.53726	0.0955:0.0:0.7205:0.184	6.197	0.19769	743	0.52768	.	.	.	.	.	.	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	0.02381	1203.98	35	chr1	21626348	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.898;DP=790;ExcessHet=0.0000;FS=1.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.625;SOR=0.791	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1218,0,895	20	0	1	0
chr1	21814421	21814421	C	A	exonic	LDLRAD2	.	nonsynonymous SNV	LDLRAD2:NM_001013693:exon2:c.C109A:p.Q37K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.437	B	0.079	B	0.477	N	0.737	D	1.15	L	0.74	T	-1.004	T	0.086	T	0.269	2.885	15.61	4.28	2.227	6.243	14.235	0.152	0.111870532108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166862685	6.876e-07	6.84e-07	0	1.384e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.09022	T	0.073	0.43159	T	0.437	0.35811	B	0.079	0.28749	B	0.476517	0.12215	N	0.682462	0.73733	0.33784	D	1.795	0.47270	L	0.74	0.50459	T	-1.42	0.34992	N	0.409	0.44952	-1.0039	0.28785	T	0.086	0.33298	T	10	0.23767626	0.40873	T	0.111871	0.78982	D	0.152	0.39956	0.376	0.38994	0.392239652056	0.38839	0.6201980368398858	0.61952	0.503364777293	0.48666	0.508346378803	0.39991	T	0.039498	0.25209	T	-0.120692	0.33010	T	-0.411142	0.32093	T	0.706746280193329	0.41042	D	0.59644	0.22167	T	0.26132867	0.49192	0.17755143	0.40365	0.26132867	0.49192	0.17755143	0.40364	-7.137	0.55028	T	.	.	0.106	0.19958	B	.;.	.;.	3.794748	0.54638	23.5	0.97624729713190661	0.34983	0.94658	0.61888	D	ALL	0.712205	0.66540	D	-0.205603318420386	0.32904	1.860805	-0.101296424689742	0.35339	2.043303	0.999999999999976	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.166054	0.03999	2	0.56751	0.32155	0	.	.	4.28	4.28	0.50183	6.309000	0.72791	2.921000	0.35563	0.533000	0.24879	1.000000	0.71638	0.758000	0.26602	0.966000	0.53164	0.0:1.0:0.0:0.0	14.235	0.65468	862	0.33134	.;.	.	.	.	.	.	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	0.02381	500.98	33	chr1	21814421	.	C	A	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=826;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-2.122e+00;SOR=1.154	GT:AD:DP:GQ:PL	0/1:31,22:53:99:515,0,794	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52,0:52:99:1|1:26282270_C_T:2320,157,0,2320,157,2320:26282270	0	9	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,26,0:57:99:0|1:26282270_C_T:996,0,1117,1089,1195,2285:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,26,31:57:99:0|1:26282270_C_T:2311,1195,1112,1090,0,996:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,29,29:58:99:0|1:26282270_C_T:2329,1193,1152,1108,0,1016:26282270	1	1	5	4
chr1	26952079	26952079	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.G302A:p.R101H,	.	.	430	1089	2	1	0	4	0.00183318	.	.	3021638	not_provided|KDF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.994	D	0.669	P	0.000	D	0.973	N	0.55	N	1.74	T	-1.083	T	0.034	T	0.396	3.835	19.48	4.0	1.266	3.460	3.258	0.116	0.0119134788529	0.0023	0.00139776	0.0007	0.0060	0.0007	0	0	0.0002	0.0012	0.0001	0.0006792	105	154602	rs139183337	0.0004	0.0004	0.0004	0.0004	0.0048	0.0004	0.0004	0.0042	0.0040	0.0048	0.0011	0.0002	0	0	0.0017	0.0003	0.0008	6.957e-05	0.0018	0.0018	0.0018	0.0017	0.0058	0.0016	0.0015	0.0052	0.0049	0.0058	0	0.0005	0.0009	0	0	0	0.0002	0.0019	0	0.035	0.43708	D	0.113	0.36901	T	0.994	0.66517	D	0.669	0.53077	P	0.000174	0.48594	D	0.136143	0.972752	0.25584	N	0.895	0.22405	L	1.74	0.26301	T	-1.16	0.29727	N	0.315	0.35514	-1.0825	0.06871	T	0.034	0.14769	T	10	0.0068392456	0.00155	T	0.011913	0.29998	T	0.116	0.32463	.	.	0.41859458845	0.41473	0.43527275034797336	0.43444	1.07580101826	0.76957	.	.	.	0.034362	0.23290	T	-0.442172	0.01256	T	-0.405869	0.32702	T	0.0226515989256701	0.00983	T	0.836316	0.50742	T	0.06694205	0.14450	0.039366607	0.04014	0.06694205	0.14450	0.039366607	0.04013	-5.712	0.43800	T	0.152050973672161	0.17984	0.097	0.15966	B	.	.	4.581357	0.72376	25.8	0.99921709468174646	0.98787	0.57917	0.30503	D	AEFDBCI	0.152352	0.27701	N	0.274843694757074	0.54876	3.652345	0.308662780356807	0.56046	3.767723	0.99995536922049	0.48110	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.92	4.0	0.45673	3.813000	0.55340	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.229:0.5714:0.0:0.1995	3.258	0.06435	590	0.68897	.	.	.	.	.	.	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	0.02381	1179.98	38	chr1	26952079	.	C	T	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=892;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=-2.260e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1194,0,909	20	0	1	0
chr1	28466441	28466441	C	T	exonic	PHACTR4	.	nonsynonymous SNV	PHACTR4:NM_023923:exon5:c.C526T:p.P176S	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.073	B	0.053	B	0.690	N	0.982	N	0.345	N	1.96	T	-1.031	T	0.039	T	0.171	0.449	6.436	4.49	1.236	3.235	13.120	0.058	0.00720228307105	0.0006	.	0.0004	0	0	0	0	0.0007	0.0011	0	0.0003946	61	154602	rs202232228	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0102	0	1.872e-05	0.0007	0.0001	0.0011	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0002	0	0	0	0.0130	0	0	0	0.0003	0.0005	0	0.004	0.65419	D	0.275	0.22359	T	0.006	0.24078	B	0.01	0.25678	B	0.690422	0.10180	N	0.869306	0.982127	0.24987	N	0.345	0.11182	N	1.96	0.22881	T	-0.27	0.11366	N	0.19	0.20793	-1.0308	0.20195	T	0.039	0.16849	T	10	0.006074846	0.00137	T	0.007202	0.19089	T	0.058	0.16647	.	.	0.403752378121	0.39992	0.22529675408730498	0.22444	0.0808118866338	0.09095	0.306109637022	0.11320	T	0.067512	0.33222	T	-0.411803	0.01934	T	-0.53311	0.18976	T	0.0608034796730617	0.07294	T	0.774123	0.41422	T	0.045644816	0.07508	0.060120184	0.11399	0.045644816	0.07508	0.060120184	0.11398	-4.353	0.28996	T	.	.	0.076	0.08560	B	.;.;.	.;.;.	2.456983	0.31646	18.80	0.29905713990727167	0.01609	0.97800	0.77226	D	AEFDBI	0.344998	0.44030	N	-0.37871049821767	0.26229	1.429897	-0.164891580200996	0.32839	1.872342	0.999644835250064	0.41316	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.49	0.54177	3.617000	0.53923	3.292000	0.37313	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.518000	0.29429	0.0:0.839:0.161:0.0	13.120	0.58738	592	0.68746	.;.;.	.	.	.	.	.	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	0.02381	2258.98	34	chr1	28466441	.	C	T	2258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.249e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/1:118,94:212:99:2273,0,3021	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,16,0:20:67:.:.:445,0,67,457,115,572	0	12	8	0
chr1	39841779	39841779	C	T	exonic	TRIT1	.	nonsynonymous SNV	TRIT1:NM_001312692:exon9:c.G1123A:p.G375R	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.023	B	0.016	B	0.434	N	1.000	N	0.695	N	0.9	T	-1.016	T	0.074	T	0.333	0.602	7.242	2.89	0.821	1.005	9.793	0.060	0.0124863768948	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs764987272	6.843e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.106	0.30943	T	0.116	0.36497	T	0.023	0.18885	B	0.01	0.14941	B	0.434113	0.12711	N	0.739611	1	0.08975	N	0.805	0.20218	L	0.9	0.45636	T	-1.37	0.53898	N	0.156	0.22486	-1.0163	0.24916	T	0.074	0.29802	T	10	0.09721714	0.17494	T	0.012486	0.31109	T	0.060	0.17295	0.16	0.06396	0.571207575158	0.56786	0.21025216058579557	0.20941	0.331359197874	0.35213	0.328225016594	0.14665	T	0.024282	0.18375	T	-0.16784	0.25562	T	-0.463381	0.26232	T	0.0747063895998117	0.09295	T	0.816718	0.47282	T	0.04523579	0.07368	0.060634084	0.11581	0.04523579	0.07368	0.060634084	0.11580	-4.668	0.34766	T	.	.	0.082	0.15296	B	.;.;.;.;.	.;.;.;.;.	1.764548	0.22442	15.62	0.83105035185405596	0.14545	0.26784	0.23092	N	AEFBI	0.087118	0.17664	N	-0.75554664595724	0.14482	0.7218194	-0.734252360729576	0.16110	0.8506708	0.999851744363171	0.44174	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	2.89	0.32713	1.088000	0.30489	0.096000	0.14582	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.078000	0.17132	0.283:0.5806:0.1364:0.0	9.793	0.39882	78	0.96748	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1706.98	35	chr1	39841779	.	C	T	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-3.750e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:59,72:131:99:1721,0,1332	20	0	1	0
chr1	41143048	41143048	T	A	exonic	SCMH1	.	nonsynonymous SNV	SCMH1:NM_001172222:exon4:c.A71T:p.N24I	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.02	M	0.66	T	-0.182	T	0.366	T	0.839	4.883	28.0	6.07	2.326	7.698	15.465	0.615	0.1302606787	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	2.59e-05	4	154602	rs758534047	5.267e-05	5.267e-05	4.9e-05	5.638e-05	0.0003	4.277e-05	3.952e-05	6.092e-05	4.568e-05	2.987e-05	2.236e-05	0	0	0	0.0003	6.205e-05	6.623e-05	0	4.6e-05	4.597e-05	6.424e-05	2.69e-05	8.818e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.32	0.90714	M	0.66	0.52416	T	-7.18	0.97104	D	0.882	0.95491	-0.1823	0.78123	T	0.366	0.72666	T	10	0.8720329	0.86474	D	0.130261	0.81241	D	0.615	0.84986	0.667	0.80502	0.69255565639	0.68991	0.7720821085260523	0.77158	2.47156410767	0.97491	0.841175079346	0.88273	D	0.453704	0.79354	T	0.128687	0.67233	D	0.12292	0.78427	D	0.976850390434265	0.71571	D	0.985601	0.95813	D	0.93673897	0.94916	0.90577227	0.95388	0.93673897	0.94916	0.90577227	0.95388	-13.668	0.93303	D	.	.	0.993	0.94980	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.460154	0.69407	25.4	0.99348346203451465	0.60493	0.98368	0.82067	D	AEFBI	0.914949	0.87905	D	0.931089220420257	0.93199	11.88319	0.89529079311662	0.95363	13.55203	0.999999938690836	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.674000	0.83146	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.465	0.75119	542	0.72843	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1483.98	33	chr1	41143048	.	T	A	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.390e+00;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.260e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1498,0,1793	20	0	1	0
chr1	42739934	42739934	C	G	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001123395:exon1:c.G130C:p.V44L	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.951	P	0.862	P	0.000	D	1.000	D	1.91	M	-2.49	D	0.514	D	0.748	D	0.724	4.313	22.6	4.77	2.182	3.334	15.307	0.583	0.101673351337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.84e-07	1.364e-06	0	1.167e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.20607	T	0.33	0.19188	T	0.951	0.53992	P	0.862	0.61339	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.855	0.49169	L	-2.49	0.89145	D	-0.91	0.26200	N	0.705	0.77507	0.514	0.90749	D	0.748	0.91394	D	10	0.78729546	0.78356	D	0.101673	0.77470	D	0.583	0.83249	0.603	0.73466	0.873064784815	0.87182	0.6207257291094853	0.62005	0.953332268801	0.72727	0.72286093235	0.70463	T	0.429434	0.77824	T	0.214633	0.75268	D	0.0705296	0.74947	D	0.942222595214844	0.61621	D	0.862414	0.56549	D	0.28767112	0.51776	0.2388777	0.49221	0.28767112	0.51775	0.2388777	0.49220	-8.272	0.64647	D	0.16319364889277765	0.20093	0.913	0.83704	P	.;.;.	.;.;.	4.193362	0.63219	24.6	0.99659240372784363	0.77820	0.87857	0.47543	D	AEFDBCI	0.695490	0.65414	D	0.386355951995952	0.60681	4.259824	0.41141671176904	0.62274	4.440229	0.999999999999995	0.74766	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	4.136000	0.57766	4.889000	0.45745	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	15.307	0.73706	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	34	chr1	42739934	.	C	G	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=789;ExcessHet=0.0000;FS=5.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=1.72;SOR=0.791	GT:AD:DP:GQ:PL	0/1:55,41:96:99:915,0,1360	20	0	1	0
chr1	45824568	45824568	A	G	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon2:c.A313G:p.S105G	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.002	B	0.051	N	1.000	N	-0.205	N	0.04	T	-1.035	T	0.088	T	0.101	1.355	10.46	3.07	0.367	2.784	9.486	0.042	0.0167204306716	0.0002	0.000199681	0.0002	0	8.649e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs371442168	8.647e-05	8.893e-05	7.69e-05	9.619e-05	0.0021	7.394e-05	6.892e-05	0.0012	0.0010	0	9.275e-05	0	0	0	0.0021	8.166e-05	5.026e-05	0.0002	7.876e-05	7.873e-05	8.991e-05	6.71e-05	0.0002	4.492e-05	3.508e-05	0.0001	7.893e-05	0	0	0	0	0	0	0	0.0002	0	0	0.505	0.07619	T	0.596	0.08052	T	0.001	0.07471	B	0.002	0.06944	B	0.050897	0.23030	N	0.376437	1	0.08975	N	0.525	0.13617	N	0.04	0.62051	T	1.2	0.01078	N	0.143	0.14338	-1.0349	0.18888	T	0.088	0.33996	T	10	0.042954236	0.03095	T	0.01672	0.38109	T	0.042	0.11227	.	.	0.678335828294	0.67560	0.13572365257519858	0.13496	0.204182828251	0.22841	0.349896669388	0.17907	T	0.008097	0.07453	T	-0.360972	0.04075	T	-0.496608	0.22699	T	0.0350125865706361	0.02810	T	0.759724	0.38410	T	0.08782553	0.20466	0.042488307	0.05072	0.08782553	0.20465	0.042488307	0.05072	-4.451	0.30243	T	.	.	0.065	0.01909	B	.	.	2.780725	0.36527	20.3	0.98786441121119328	0.46222	0.70592	0.34654	D	AEFBI	0.155807	0.28106	N	-0.549857125057611	0.20488	1.08041	-0.339985697614323	0.26820	1.483972	0.833295666864362	0.24732	0.743674	0.98306	0	0.708844	0.79440	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	5.39	3.07	0.34476	2.661000	0.46423	3.940000	0.40597	0.715000	0.85334	1.000000	0.71638	0.907000	0.28067	0.994000	0.71098	0.8562:0.0:0.1438:0.0	9.486	0.38091	125	0.94984	.	.	.	.	.	.	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	0.02381	404.98	33	chr1	45824568	.	A	G	404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.820e+00;DP=734;ExcessHet=0.0000;FS=2.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.490e-01;SOR=1.093	GT:AD:DP:GQ:PL	0/1:26,19:45:99:419,0,719	20	0	1	0
chr1	46035072	46035072	G	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon29:c.G4400T:p.G1467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.905	P	0.003	N	1.000	D	0.975	L	-0.16	T	-0.447	T	0.305	T	0.652	2.779	15.26	2.83	1.341	4.012	11.514	0.193	0.0373627508977	.	.	7.646e-05	0	0	0	0	6.179e-05	0.0034	0.0001	5.82e-05	9	154602	rs3737737	5.269e-05	5.267e-05	4.357e-05	6.19e-05	5.756e-05	4.279e-05	3.954e-05	4.612e-05	4.197e-05	0	0	0	0	0	0	5.756e-05	0.0002	3.478e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	0.995	0.67487	D	0.593	0.50536	P	0.002580	0.36316	N	0.222658	0.999999	0.81001	D	2.57	0.75187	M	-0.16	0.65378	T	-2.21	0.49684	N	0.497	0.53006	-0.4469	0.70502	T	0.305	0.67593	T	10	0.4219395	0.56922	T	0.037363	0.57572	D	0.193	0.47281	0.159	0.06287	0.847962216055	0.84650	0.17234931617036456	0.17154	0.83008999717	0.67584	0.607342362404	0.53940	T	0.020479	0.16118	T	-0.0267274	0.47890	T	-0.0725686	0.65443	T	0.166375330918714	0.18329	T	0.858914	0.54988	D	0.19908237	0.41834	0.24040319	0.49413	0.19908237	0.41834	0.24040319	0.49412	-4.319	0.28442	T	.	.	0.139	0.30397	B	.	.	3.762998	0.53999	23.4	0.99499605745659014	0.67973	0.91722	0.54125	D	AEFDBHCI	0.518607	0.54424	D	0.243458496471999	0.53315	3.501036	0.203666810095642	0.50049	3.201211	0.999999570681847	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.71	2.83	0.32150	3.442000	0.52663	6.300000	0.55412	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.1547:0.0:0.8453:0.0	11.514	0.49757	80	0.96670	.	.	.	.	.	.	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	0.07143	5548.43	34	chr1	46035072	.	G	C,T	5548.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.064;DP=1182;ExcessHet=0.3300;FS=1.729;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.377;SOR=0.578	GT:AD:DP:GQ:PL	0/1:65,72,0:137:99:1843,0,1672,2037,1889,3925	18	0	2	0
chr1	46547786	46547786	C	T	exonic	KNCN	.	nonsynonymous SNV	KNCN:NM_001097611:exon3:c.G250A:p.V84M	.	.	.	.	.	.	.	.	.	.	.	2263399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	.	.	0.919	N	.	.	.	.	-0.789	T	0.268	T	0.568	3.751	19.04	3.54	2.285	3.241	10.892	0.178	0.0169740481699	8e-05	.	0.0002	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs369636358	5.868e-05	6.84e-05	5.341e-05	6.424e-05	0.0002	4.765e-05	4.403e-05	6.839e-05	4.382e-05	0.0002	0	0	0.0001	0.0009	0	2.114e-05	1.847e-05	7.819e-05	0.0002	0.0002	8.991e-05	0.0003	0.0004	0.0001	0.0001	6.82e-05	2.855e-05	7.239e-05	0	0	0	0.0004	0.0019	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.919325	0.27330	N	.	.	.	.	.	.	-1.59	0.53736	N	0.404	0.64308	-0.7894	0.55765	T	0.268	0.63918	T	7	0.061154455	0.07624	T	0.016974	0.38471	T	0.178	0.44724	.	.	0.0297737177859	0.01360	0.27335471736287553	0.27248	0.45173595615	0.44915	0.668841838837	0.62673	T	0.021509	0.16737	T	-0.149916	0.28323	T	-0.159634	0.58386	T	0.286609208707041	0.24448	T	0.854814	0.54842	D	0.3451204	0.56684	0.4925712	0.70648	0.3451204	0.56684	0.4925712	0.70648	-4.657	0.33622	T	.	.	0.329	0.60762	B	.;.	.;.	5.026709	0.83583	28.1	0.99873890147032596	0.95160	0.73435	0.35921	D	AEFDGBCI	0.230766	0.35410	N	0.507819324820951	0.67550	5.09676	0.444471888573135	0.64363	4.689696	0.999978109460554	0.50053	0.59774	0.34471	0	0.615948	0.52940	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	3.54	3.54	0.39650	3.277000	0.51358	7.339000	0.58239	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	10.892	0.46211	101	0.95833	.;.	.	.	.	.	.	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	0.02381	1078.98	35	chr1	46547786	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=795;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-4.150e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/1:29,45:74:99:1093,0,711	20	0	1	0
chr1	47775321	47775321	C	T	exonic	TRABD2B	.	nonsynonymous SNV	TRABD2B:NM_001194986:exon6:c.G1198A:p.D400N,	.	.	.	.	.	.	.	.	.	.	.	2754618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139893701245	.	0.000399361	0	0	0	0	0	0	0	0	6.47e-05	10	154602	rs569339407	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0012	0.0009	0.0001	0.0005	6.825e-05	0	0	0.0023	0.0002	0.0005	0	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0	.	.	.	0.451	0.12920	T	.	.	.	.	.	.	.	.	.	.	0.987184	0.24543	N	0	0.06538	N	.	.	.	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.037205607	0.02062	T	0.139894	0.82236	D	.	.	.	.	0.154104182512	0.14974	0.14994451787925078	0.14916	0.900604418426	0.70619	0.519370555878	0.41538	T	0.00342	0.02829	T	-0.546301	0.00307	T	-0.607941	0.12152	T	.	.	.	0.438556	0.12074	T	0.049699068	0.08865	0.114170164	0.27556	0.049699068	0.08865	0.114170164	0.27556	-6.362	0.49212	T	.	.	0.078	0.06942	B	.	.	2.776050	0.36451	20.3	0.99031115636619194	0.50808	0.93184	0.57545	D	AEFDBHCI	0.647935	0.62293	D	.	.	.	.	.	.	0.999905960337677	0.45458	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	6.04	5.13	0.69729	4.472000	0.59921	5.928000	0.51272	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.551000	0.30197	0.0:0.9311:0.0:0.0689	14.683	0.68643	525	0.74024	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1164.98	41	chr1	47775321	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=802;ExcessHet=0.0000;FS=1.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-7.730e-01;SOR=0.511	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1179,0,1556	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,12:25:99:1|0:50419101_CCGGCGG_C:1315,420,464,577,0,506:50419101	0	2	0	0
chr1	51463782	51463782	T	C	exonic	EPS15	.	nonsynonymous SNV	EPS15:NM_001981:exon7:c.A392G:p.K131R,	.	.	452	1068	2	0	0	2	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	.	.	1.000	D	1.785	L	1.32	T	-0.900	T	0.170	T	0.331	3.612	18.38	2.76	0.837	5.746	10.192	0.136	0.0224904223016	0.0010	0.000798722	0.0003	0.0029	8.675e-05	0	0	6.03e-05	0	0	0.0002717	42	154602	rs147146180	0.0001	0.0001	0.0001	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	4.581e-05	3.871e-05	2.535e-05	0	0.0002	2.179e-05	0.0005	1.194e-05	0.0012	0.0012	0.0012	0.0012	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0002	0	0.0006	0	0	2.94e-05	0.0005	0	0.071	0.39820	T	0.039	0.52060	D	0.892	0.90584	P	0.652	0.92359	P	.	.	.	.	1	0.81001	D	1.28	0.32218	L	1.32	0.35219	T	-2.46	0.53736	N	0.458	0.61849	-0.9004	0.47952	T	0.170	0.51101	T	9	0.013610572	0.00288	T	0.02249	0.45384	T	0.136	0.36778	.	.	0.690292029307	0.68763	0.5312679049268713	0.53050	0.45731366189	0.45371	0.507613658905	0.39889	T	0.042702	0.53473	T	-0.404318	0.02168	T	-0.353147	0.38844	T	0.0576097135406733	0.06787	T	0.866213	0.56644	D	0.09391918	0.22070	0.14258435	0.33916	0.09391918	0.22070	0.14258435	0.33915	-7.66	0.58729	D	.	.	0.122	0.25429	B	.;.	.;.	4.347822	0.66758	25.0	0.9985042191154565	0.93013	0.90725	0.52143	D	AEDGBHCIJ	.	.	.	0.377421480836539	0.60199	4.206403	0.313542104769689	0.56335	3.79667	0.999932967984587	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.91	2.76	0.31527	6.266000	0.72505	4.185000	0.42364	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1678:0.8322	10.192	0.42208	427	0.81056	EH domain|EH domain|EH domain;EH domain|EH domain|EH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	579.98	34	chr1	51463782	.	T	C	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-8.930e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:20,27:47:99:594,0,428	20	0	1	0
chr1	54068819	54068819	A	G	exonic	TCEANC2	.	nonsynonymous SNV	TCEANC2:NM_153035:exon3:c.A166G:p.K56E,	.	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.002	B	0.000	D	0.998	D	0.53	N	.	.	-1.065	T	0.067	T	0.183	1.821	12.05	3.43	2.209	4.799	9.170	0.061	0.00374992999148	0.0002	0.000798722	0.0003	0.0002	0.0002	0	0	0.0004	0.0022	0	0.0003105	48	154602	rs144986013	0.0003	0.0003	0.0003	0.0003	0.0051	0.0003	0.0002	0.0036	0.0031	0.0007	0.0004	0.0003	0	0	0.0051	0.0002	0.0008	8.162e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	9.898e-05	9.618e-05	0	0.0003	0.0006	0	0	0.0170	0.0002	0.0005	0	0.54	0.14793	T	0.628	0.14500	T	0.003	0.11197	B	0.002	0.06944	B	0.000014	0.62929	D	0.176891	0.998173	0.44592	D	0.91	0.23283	L	.	.	.	-0.9	0.24244	N	0.208	0.23125	-1.0649	0.10572	T	0.067	0.27537	T	9	0.018861622	0.00415	T	0.00375	0.08713	T	0.061	0.17616	.	.	0.0297737177859	0.01360	0.35949643513362156	0.35863	0.266379083954	0.29178	0.325971066952	0.14325	T	0.010721	0.09649	T	-0.354658	0.04442	T	-0.434839	0.29387	T	0.0276536364108324	0.01638	T	0.787321	0.42620	T	0.14285496	0.32857	0.1560657	0.36555	0.14285496	0.32856	0.1560657	0.36554	-5.025	0.37110	T	.	.	0.086	0.18414	B	.;.	.;.	3.135237	0.42385	21.5	0.99635716366002369	0.76326	0.92931	0.56900	D	AEFBI	0.436648	0.49678	N	-0.292667683682049	0.29430	1.631995	-0.0837579949989124	0.36060	2.093875	0.00127464129714481	0.08400	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.79	3.43	0.38372	4.793000	0.62168	7.914000	0.74175	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.7933:0.1355:0.0713:0.0	9.170	0.36238	801	0.44448	Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	228.98	33	chr1	54068819	.	A	G	228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=697;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.94;ReadPosRankSum=-3.740e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:21,12:33:99:243,0,539	20	0	1	0
chr1	55214965	55214965	T	C	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon1:c.A149G:p.Y50C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.943	P	0.759	P	0.181	U	0.599	N	1.87	L	3.75	T	-1.102	T	0.032	T	0.378	2.772	15.23	2.41	1.104	.	8.743	0.062	0.719368629646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224102853	3.914e-06	6.156e-06	1.546e-06	6.341e-06	7.24e-05	1.15e-06	8.3e-07	2.814e-05	1.835e-05	0	0	0	0	0	0	0	0	7.24e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.011	0.64786	D	.	.	.	.	.	.	0.180575	0.17114	U	0.493259	0.599055	0.30956	N	1.87	0.49600	L	3.75	0.03922	T	-1.02	0.26843	N	0.444	0.48227	-1.1017	0.03892	T	0.032	0.13767	T	10	0.33907485	0.51001	T	0.719369	0.97728	D	0.062	0.17934	.	.	0.151262610727	0.14761	0.5750214284181766	0.57431	1.36629729331	0.84451	0.965019464493	0.99952	D	0.032433	0.22483	T	-0.253185	0.13710	T	-0.432331	0.29670	T	0.792261958122253	0.45838	D	0.829117	0.49388	T	0.20601621	0.42762	0.18395673	0.41417	0.20601621	0.42762	0.18395673	0.41417	-5.369	0.40621	T	.	.	0.149	0.32969	B	.	.	4.581720	0.72389	25.8	0.98986980431013205	0.49861	0.51829	0.28987	D	AEFDGBHCI	0.159698	0.28554	N	0.184211543491379	0.50440	3.234077	0.0993027495506935	0.44514	2.731689	0.999999999998036	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.289072	0.05449	1	0.492483	0.08430	1	.	.	2.41	2.41	0.28644	2.641000	0.46254	5.482000	0.48725	0.470000	0.21925	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	8.743	0.33729	856	0.34373	.	.	.	.	.	.	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	0.02381	260.98	20	chr1	55214965	.	T	C	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=558;ExcessHet=0.0000;FS=6.152;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-1.175e+00;SOR=0.811	GT:AD:DP:GQ:PL	0/1:18,10:28:99:275,0,519	20	0	1	0
chr1	62864118	62864118	C	T	exonic	ATG4C	.	stopgain	ATG4C:NM_032852:exon11:c.C1336T:p.Q446X	.	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.903	28.2	1.29	-0.034	2.842	7.362	.	.	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001358	21	154602	rs200697610	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	0.0005	0	7.498e-05	0.0016	0.0001	0.0002	1.179e-05	0.0001	0.0001	6.438e-05	0.0001	0.0004	6.529e-05	5.337e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000423	0.44522	D	0.182425	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.135	0.13484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365406	0.87656	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.410888	0.96489	36	0.95642972991550035	0.27443	0.65614	0.32796	D	AEFI	0.052765	0.09447	N	0.242355129582298	0.53262	3.495906	-0.00200071625866466	0.39626	2.352328	1.4826180497459E-4	0.05573	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.0	1.29	0.20717	2.318000	0.43438	4.488000	0.43560	-0.306000	0.06133	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.64:0.2861:0.0739:0.0	7.362	0.25927	777	0.48198	.;.	.	.	.	.	.	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	0.02381	693.98	35	chr1	62864118	.	C	T	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.860e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-4.740e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:31,29:60:99:708,0,787	20	0	1	0
chr1	76412329	76412329	A	G	exonic	ST6GALNAC3	.	nonsynonymous SNV	ST6GALNAC3:NM_001349105:exon2:c.A340G:p.I114V	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.003	B	0.006	B	0.098	N	1.000	N	-0.395	N	1.59	T	-0.946	T	0.008	T	0.037	-1.137	0.112	-5.93	-0.775	-0.079	10.454	0.020	0.00338650865493	0.0015	0.00139776	0.0032	0.0004	0.0003	0	0.0082	0.0045	0.0011	0.0020	0.0030271	468	154602	rs142883428	0.0028	0.0028	0.0029	0.0028	0.0031	0.0028	0.0027	0.0030	0.0030	0.0003	0.0004	0.0009	0	0.0071	0.0003	0.0031	0.0019	0.0015	0.0023	0.0023	0.0020	0.0026	0.0033	0.0021	0.0020	0.0029	0.0028	0.0003	0.0099	0.0005	0.0006	0	0.0084	0.0034	0.0033	0.0009	0.0015	1.0	0.00964	T	1.0	0.17014	T	0.0	0.02946	B	0.006	0.12133	B	0.098416	0.19982	N	0.539002	1	0.08975	N	-0.305	0.03614	N	1.59	0.28836	T	0.1	0.05810	N	0.034	0.00942	-0.9457	0.41698	T	0.008	0.02720	T	10	0.009588122	0.00216	T	0.003387	0.07603	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.3574485032854796	0.35658	0.0562389328225	0.06208	0.278018712997	0.07217	T	0.008451	0.07757	T	-0.703606	0.00035	T	-0.783978	0.02335	T	0.000168125799973495	0.00001	T	0.264174	0.04286	T	0.018783055	0.00402	0.030566828	0.01528	0.018783055	0.00401	0.030566828	0.01528	-3.642	0.18466	T	.	.	0.065	0.01934	B	.;.	.;.	-1.090837	0.00651	0.018	0.23080703536851194	0.00959	0.06118	0.12095	N	AEFBI	0.074124	0.14848	N	-1.58629747341855	0.01334	0.05812722	-1.58568437862944	0.01743	0.07925105	0.00460367944605584	0.10636	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.04	-5.93	0.02067	-0.077000	0.11356	-0.146000	0.11468	-0.793000	0.03229	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.429:0.0948:0.4762:0.0	10.454	0.43728	658	0.62094	.;.	.	.	.	.	.	Likely benign	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	0.02381	1985.98	33	chr1	76412329	.	A	G	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=835;ExcessHet=0.0000;FS=2.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=6.000e-03;SOR=0.499	GT:AD:DP:GQ:PL	0/1:78,73:151:99:2000,0,1999	20	0	1	0
chr1	83890382	83890382	C	T	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon18:c.G2227A:p.V743I	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.000	D	1.000	D	2.175	M	3.3	T	-1.153	T	0.035	T	0.35	4.862	27.8	4.22	1.292	3.351	13.866	0.117	0.00776735757348	0.0011	0.00159744	0.0007	0.0038	0.0006	0	0	0.0005	0.0011	6.067e-05	0.0006209	96	154602	rs140612684	0.0005	0.0005	0.0004	0.0005	0.0046	0.0004	0.0004	0.0040	0.0038	0.0046	0.0008	3.83e-05	0	0	0.0043	0.0003	0.0009	3.479e-05	0.0015	0.0015	0.0016	0.0015	0.0037	0.0014	0.0013	0.0031	0.0029	0.0036	0	0.0037	0	0	0	0.0034	0.0003	0.0033	0	0.008	0.58626	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999722	0.48557	D	1.975	0.53506	M	3.3	0.06368	T	-0.49	0.15578	N	0.243	0.27435	-1.1531	0.00935	T	0.035	0.15291	T	10	0.011839539	0.00257	T	0.007767	0.20616	T	0.117	0.32689	.	.	0.335164054921	0.33125	0.33840281834686275	0.33753	0.476932772482	0.46813	0.588005423546	0.51212	T	0.123299	0.44756	T	-0.477163	0.00769	T	-0.458469	0.26767	T	0.0131391999282904	0.00232	T	0.920308	0.71149	D	0.15282215	0.34671	0.14873174	0.35146	0.15282215	0.34671	0.14873174	0.35145	-5.376	0.40688	T	.	.	0.088	0.11749	B	.	.	2.808282	0.36963	20.4	0.9989831857943281	0.97048	0.94875	0.62633	D	AEFBI	0.555062	0.56565	D	0.58552290859763	0.72271	5.779432	0.530506584981695	0.70053	5.448916	0.999998941594132	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.12	4.22	0.49153	3.396000	0.52309	1.780000	0.28708	0.599000	0.40250	0.996000	0.39380	0.931000	0.28545	0.997000	0.79791	0.0:0.9261:0.0:0.0739	13.866	0.63090	942	0.12992	.	.	.	.	.	.	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	0.02381	713.98	33	chr1	83890382	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=2.04;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,33:66:99:728,0,730	20	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	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	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,25:81:99:.:.:256,0,490	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,233,0,0:233:99:.:.:9962,702,0,9962,702,9962,9962,702,9962,9962	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,233,0,0:233:99:.:.:9962,702,0,9962,702,9962,9962,702,9962,9962	0	12	6	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	0	1444	76	2	0	80	0.0269542	.	.	22927	Cone-rod_dystrophy_3|Retinitis_pigmentosa_19|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|not_provided|ABCA4-related_disorder|Inborn_genetic_diseases|Age_related_macular_degeneration_2|Retinitis_pigmentosa|See_cases|Retinal_dystrophy|Stargardt_disease|Macular_dystrophy|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO|not_specified	MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C3661900|MedGen:CN239167|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	-0.545	N	-3.22	D	0.718	D	0.700	D	0.983	4.439	23.6	5.35	2.941	5.668	19.614	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2958.08	33	chr1	94008251	.	C	T	2958.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=1.081	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2986,302,0	20	1	0	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	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	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,25:94:99:0|1:99884396_T_C:592,0,2579:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,26:97:99:0|1:99884396_T_C:622,0,2645:99884396	6	0	15	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:26,18,0:44:99:675,0,1038,753,1092,1845	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:26,18,0:44:99:675,0,1038,753,1092,1845	1	11	8	0
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.64	M	0.99	T	0.157	D	0.571	D	0.578	2.544	14.47	3.37	0.592	2.160	9.683	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	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	0.04762	70.09	37	chr1	109758052	.	G	T	70.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.510e-01;DP=838;ExcessHet=0.1072;FS=26.116;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.69;ReadPosRankSum=0.866;SOR=4.499	GT:AD:DP:GQ:PL	0/1:43,9:52:83:83,0,1220	19	0	2	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,20:131:91:0|1:110222977_C_G:91,0,3932:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,20:132:89:0|1:110222977_C_G:89,0,3939:110222977	12	0	8	1
chr1	111727257	111727257	C	T	exonic	INKA2	.	nonsynonymous SNV	INKA2:NM_019099:exon2:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	3267693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.2	B	0.037	B	0.001	N	1.000	D	0.975	L	.	.	-1.055	T	0.052	T	0.146	3.258	16.93	4.0	1.067	2.193	6.915	0.061	0.00801026463888	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	2.59e-05	4	154602	rs751736006	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.767e-05	0.0001	0.0001	5.974e-05	2.237e-05	0	0.0001	0	0	0.0001	3.312e-05	2.319e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.003	0.68238	D	0.005	0.72224	D	0.2	0.29645	B	0.025	0.20508	B	0.000819	0.41658	N	0.200696	0.99142	0.81001	D	.	.	.	.	.	.	-2.2	0.49519	N	0.112	0.09914	-1.0552	0.12987	T	0.052	0.22076	T	9	0.13362968	0.25432	T	0.00801	0.21239	T	0.061	0.17616	0.326	0.30873	0.507031862817	0.50341	0.21656222760033142	0.21572	0.287796179006	0.31178	0.455918431282	0.32753	T	0.109903	0.42416	T	-0.243798	0.14869	T	-0.407679	0.32492	T	0.183523014580205	0.19455	T	0.791921	0.43319	T	0.09222254	0.21630	0.09003645	0.21091	0.09222254	0.21630	0.09003645	0.21090	-5.416	0.41073	T	.	.	0.095	0.14933	B	.;.	.;.	4.290773	0.65437	24.8	0.99941830190451009	0.99824	0.72410	0.35443	D	AEFBI	0.278583	0.39283	N	-0.229354386185044	0.31934	1.795707	-0.114482047065265	0.34805	2.006305	0.999967268672986	0.48965	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.91	4.0	0.45673	2.242000	0.42756	2.158000	0.30961	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.555000	0.30293	0.0:0.725:0.0:0.275	6.915	0.23536	571	0.70397	.;.	.	.	.	.	.	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	0.02381	2372.98	41	chr1	111727257	.	C	T	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.457e+00;DP=997;ExcessHet=0.0000;FS=1.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.118;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,92:194:99:0|1:111727250_G_A:2387,0,2860:111727250	20	0	1	0
chr1	111778482	111778482	T	C	exonic	KCND3	.	nonsynonymous SNV	KCND3:NM_001378969:exon6:c.A1472G:p.Y491C	Brugada syndrome 9, Autosomal dominant;Spinocerebellar ataxia 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.75	P	0.382	B	0.003	N	1.000	D	0.895	L	-4.12	D	0.522	D	0.719	D	0.81	3.278	17.01	5.09	1.925	5.505	14.524	0.561	0.168000489001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.104	0.38160	T	0.75	0.43260	P	0.382	0.43908	B	0.003094	0.35449	N	0.245148	0.999963	0.81001	D	1.39	0.34934	L	-4.12	0.96716	D	-0.54	0.16598	N	0.853	0.84922	0.522	0.90853	D	0.719	0.90345	D	10	0.7641604	0.76573	D	0.168	0.84622	D	0.561	0.82003	0.467	0.53891	0.902934720084	0.90196	0.3726966051342878	0.37183	0.401922434935	0.41163	0.810818374157	0.83618	D	0.57837	0.86153	D	0.368364	0.87910	D	0.291353	0.87755	D	0.890682220458984	0.54153	D	0.820618	0.47957	T	0.25966105	0.49020	0.3342649	0.59254	0.25966105	0.49020	0.3342649	0.59254	-4.192	0.26635	T	.	.	0.075	0.05579	B	.	.	4.364717	0.67148	25.1	0.9961283887482002	0.74932	0.74394	0.36393	D	AEFDGBCIJ	0.714434	0.66691	D	0.264253326775158	0.54348	3.60053	0.357373602946221	0.58954	4.069276	0.999999999984727	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	5.505000	0.66698	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.524	0.67456	888	0.27761	Potassium channel, voltage dependent, Kv4, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	713.98	33	chr1	111778482	.	T	C	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.320e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-2.200e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:35,32:67:99:728,0,879	20	0	1	0
chr1	113622809	113622809	T	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon9:c.T1175C:p.M392T	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.452	N	1.000	N	-0.345	N	2.69	T	-0.916	T	0.006	T	0.052	-0.033	3.843	-0.794	-0.385	0.566	13.943	0.039	0.00514232681056	0.0002	0.000199681	0.0004	0	8.649e-05	0.0001	0	0.0002	0	0.0019	0.0003622	56	154602	rs370838779	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0003	0.0012	0.0012	0	0.0001	0	0	0	0.0009	0.0003	0.0003	0.0015	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0002	0.0005	0.0004	7.219e-05	0	0.0001	0	0	9.43e-05	0	0.0004	0.0005	0.0012	0.399	0.10553	T	0.431	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.452152	0.04821	N	1.272640	1	0.08975	N	-0.895	0.01383	N	2.69	0.13916	T	0.03	0.10308	N	0.107	0.09207	-0.9161	0.46076	T	0.006	0.01981	T	10	0.0063304007	0.00143	T	0.005142	0.13063	T	0.039	0.10176	.	.	0.0675242888579	0.06100	0.23303219202396558	0.23218	0.182341574445	0.20497	0.244348168373	0.03196	T	.	.	.	-0.700797	0.00036	T	-0.786687	0.02257	T	0.00913763998132959	0.00115	T	0.0673933	0.00836	T	0.05221134	0.09705	0.070847526	0.15100	0.05221134	0.09704	0.070847526	0.15100	-2.667	0.17367	T	.	.	0.055	0.00573	B	.;.;.;.	.;.;.;.	0.745629	0.11150	7.792	0.6118419730750364	0.06646	0.02185	0.06392	N	AEFI	0.034981	0.04426	N	-1.11562031806546	0.06365	0.2927838	-1.00106843686257	0.09762	0.4875671	6.79272156317658E-5	0.04366	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	-0.794	0.10367	0.608000	0.23921	0.503000	0.19012	-0.699000	0.04065	0.010000	0.18352	0.628000	0.25851	0.934000	0.47231	0.0:0.5515:0.0:0.4485	13.943	0.63575	477	0.77662	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	35	chr1	113622809	.	T	C	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=800;ExcessHet=0.0000;FS=3.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-4.370e-01;SOR=1.165	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1133,0,1310	20	0	1	0
chr1	113812060	113812060	C	T	exonic	RSBN1	.	nonsynonymous SNV	RSBN1:NM_018364:exon1:c.G353A:p.S118N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.299	B	0.219	B	0.003	N	0.902	N	0	N	.	.	-1.055	T	0.029	T	0.089	4.111	21.2	3.85	1.190	3.520	10.721	0.049	0.0332406514971	.	.	2.584e-05	0	0	0	0	4.46e-05	0	0	1.94e-05	3	154602	rs771825572	5.719e-06	1.094e-05	5.651e-06	5.788e-06	8.781e-05	2.46e-06	1.78e-06	2.327e-05	1.245e-05	0	8.781e-05	0	0	0	0	4.615e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.538	0.09829	T	0.299	0.32525	B	0.219	0.37734	B	0.003213	0.35270	N	0.131035	0.901792	0.27686	N	0	0.06538	N	.	.	.	-0.71	0.20145	N	0.218	0.26837	-1.0554	0.12934	T	0.029	0.12278	T	9	0.10954353	0.20438	T	0.033241	0.54840	D	0.049	0.13647	0.16	0.06396	0.043077524339	0.03247	0.18864522848941695	0.18782	0.548005550477	0.51764	0.864976525307	0.91842	D	0.019979	0.15815	T	-0.154397	0.27627	T	-0.459557	0.26648	T	0.34759039193683	0.26924	T	0.693931	0.30359	T	0.5043354	0.67349	0.6132415	0.77495	0.5043354	0.67350	0.6132415	0.77495	-5.996	0.46246	T	.	.	0.106	0.35414	B	.;.;.	.;.;.	3.992524	0.58767	24.0	0.99243333521080412	0.56630	0.33114	0.24750	N	AEFDGBHCI	0.366631	0.45438	N	-0.138775626214093	0.35714	2.054883	0.0133497959024493	0.40333	2.405439	0.9999999997661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.78	3.85	0.43556	3.621000	0.53951	7.460000	0.59046	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8072:0.1928:0.0	10.721	0.45238	785	0.46916	.;.;.	.	.	.	.	.	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	0.02381	1109.98	73	chr1	113812060	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1150;ExcessHet=0.0000;FS=1.631;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.503e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/1:59,42:101:99:1124,0,1487	20	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P	.	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.918	P	0.451	P	0.947	N	1.000	N	1.445	L	3.71	T	-0.963	T	0.009	T	0.372	1.213	9.922	1.08	0.807	0.846	1.844	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	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	0.04762	3935.11	33	chr1	114625318	.	A	G	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.920e-01;DP=968;ExcessHet=0.1072;FS=0.883;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-5.290e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:58,80:138:99:2092,0,1391	19	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:91,26:123:99:245,0,1485	0	0	21	0
chr1	115992218	115992218	G	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.G275C:p.S92T,	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.049	B	0.013	N	0.999	N	0.2	N	0.34	T	-1.014	T	0.108	T	0.198	2.279	13.58	4.01	1.068	2.104	9.859	0.067	0.017430854785	0.0054	0.00139776	0.0052	0.0017	0.0024	0	0.0013	0.0064	0.0033	0.0072	0.004379	677	154602	rs185420236	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0061	0.0070	0.0070	0.0007	0.0015	0.0016	5.124e-05	0.0012	0.0061	0.0072	0.0039	0.0070	0.0039	0.0039	0.0045	0.0033	0.0065	0.0036	0.0035	0.0060	0.0058	0.0015	0.0066	0.0024	0.0023	0	0.0006	0.0068	0.0065	0.0028	0.0056	0.127	0.32610	T	0.535	0.11004	T	0.015	0.17086	B	0.049	0.25116	B	0.013020	0.28981	N	0.422522	0.999069	0.21661	N	0.35	0.11930	N	-1.08	0.77078	T	-1.25	0.32185	N	0.24	0.27077	-1.0136	0.25784	T	0.108	0.39172	T	10	0.007766038	0.00176	T	0.017431	0.39125	T	0.067	0.19503	.	.	0.291694819147	0.28783	0.28550130682985747	0.28463	0.208021027618	0.23268	0.287762522697	0.08596	T	0.010145	0.09188	T	-0.422596	0.01647	T	-0.373409	0.36491	T	0.0104857532945679	0.00145	T	0.829717	0.49530	T	0.0754271	0.16994	0.085678324	0.19800	0.0754271	0.16993	0.085678324	0.19799	-4.615	0.34240	T	.	.	0.093	0.13830	B	.;.	.;.	2.294512	0.29350	18.10	0.97402695927089666	0.33780	0.94069	0.60019	D	AEFBI	0.307596	0.41442	N	-0.356949138755218	0.27017	1.47906	-0.15556050550482	0.33195	1.896336	0.895792491277381	0.25962	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	4.01	0.45821	2.427000	0.44397	4.578000	0.43908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1193:0.0:0.8807:0.0	9.859	0.40272	892	0.26670	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	0.07143	2263.68	33	chr1	115992218	.	G	C	2263.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.806e+00;DP=892;ExcessHet=0.3300;FS=0.616;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:36,32:68:99:858,0,1016	18	0	3	0
chr1	116600234	116600234	G	A	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon7:c.C1736T:p.S579L	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.867	P	0.443	B	0.000	D	1.000	D	1.525	L	2.59	T	-1.117	T	0.025	T	0.783	4.029	20.7	4.57	2.354	8.986	14.899	0.396	0.0154956235482	.	0.000199681	5.821e-05	0	0	0.0006	0	1.511e-05	0	6.08e-05	5.17e-05	8	154602	rs552602059	1.231e-05	1.231e-05	1.089e-05	1.375e-05	0.0003	7.7e-06	6.35e-06	6.111e-05	2.528e-05	2.987e-05	0	0	0.0001	0	0.0003	5.396e-06	4.967e-05	2.319e-05	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0002	8.13e-06	5.14e-06	.	.	0	0	6.533e-05	0	0.0002	9.411e-05	0	0	0.0005	0	0.002	0.72154	D	0.015	0.76473	D	0.782	0.47667	P	0.294	0.45803	B	0.000001	0.62929	D	0.000000	0.999987	0.54805	D	1.955	0.52871	M	2.59	0.13317	T	-3.75	0.71157	D	0.761	0.75927	-1.1170	0.02531	T	0.025	0.10553	T	10	0.44866624	0.58559	T	0.015496	0.36266	T	0.396	0.71084	0.501	0.59304	0.485086648227	0.48140	0.6415825942717509	0.64093	0.921685428134	0.71480	0.640085816383	0.58576	T	0.228845	0.59450	T	-0.130149	0.31473	T	-0.124403	0.61439	T	0.77528715133667	0.44760	D	0.909109	0.67839	D	0.44265285	0.63573	0.4080996	0.65137	0.44265285	0.63574	0.4080996	0.65137	-12.363	0.87650	D	.	.	0.439	0.61669	A	.;.;.	.;.;.	4.101461	0.61165	24.3	0.9990753992963084	0.97801	0.98455	0.82955	D	AEFDBI	0.908816	0.86463	D	0.385690944363519	0.60645	4.255822	0.4040266145325	0.61814	4.387075	0.999999999059396	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	9.092000	0.93505	9.914000	0.82450	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.400000	0.26782	0.0:0.0:1.0:0.0	14.899	0.70309	654	0.62520	.;Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1847.98	33	chr1	116600234	.	G	A	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.41;MQRankSum=-2.855e+00;QD=13.20;ReadPosRankSum=-7.480e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1862,0,1725	20	0	1	0
chr1	117076740	117076740	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.G1490A:p.R497H,	.	.	422	1088	12	0	0	12	0.00548446	.	.	706613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.974	N	1.000	N	1.1	L	-2.21	D	-0.852	T	0.252	T	0.06	1.748	11.81	0.327	0.152	-0.106	4.098	0.083	0.031427401075	0.0052	0.000998403	0.0045	0.0009	0.0030	0	0.0051	0.0068	0.0088	0.0001	0.0043984	680	154602	rs139705346	0.0058	0.0058	0.0059	0.0057	0.0067	0.0057	0.0056	0.0066	0.0065	0.0014	0.0038	0.0019	5.038e-05	0.0058	0.0061	0.0067	0.0062	0.0003	0.0044	0.0044	0.0044	0.0044	0.0066	0.0041	0.0040	0.0058	0.0056	0.0012	0	0.0066	0.0029	0	0.0059	0.0204	0.0062	0.0052	0.0004	0.178	0.22138	T	0.168	0.30631	T	0.001	0.07471	B	0.002	0.06944	B	0.974148	0.07798	N	1.016540	1	0.08975	N	0.55	0.14455	N	-2.21	0.86963	D	0.38	0.03579	N	0.047	0.01911	-0.8524	0.51802	T	0.252	0.62131	T	10	0.003646642	0.00067	T	0.031427	0.53513	D	0.083	0.24192	.	.	0.62221620619	0.61914	0.14583723799539677	0.14505	0.360902261426	0.37748	0.243106126785	0.03077	T	0.008637	0.07919	T	-0.503235	0.00548	T	-0.491633	0.23221	T	0.0028474347078721	0.00030	T	0.20068	0.02272	T	0.015416646	0.00138	0.018045269	0.00045	0.015416646	0.00138	0.018045269	0.00045	-2.278	0.04436	T	.	.	0.075	0.05711	B	.	.	0.237823	0.06184	2.633	0.91777284075757415	0.21080	0.06735	0.12756	N	AEFBI	0.056033	0.10326	N	-1.19175289621659	0.05124	0.2328516	-1.19523207563627	0.05989	0.2869539	0.736373377861732	0.23138	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	6.04	0.327	0.15155	-0.091000	0.11111	-0.311000	0.10039	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.171:0.1109:0.5938:0.1243	4.098	0.09475	895	0.25842	.	.	.	.	.	.	Likely benign	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	0.02381	1346.98	34	chr1	117076740	.	G	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=847;ExcessHet=0.0000;FS=4.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.565;SOR=1.124	GT:AD:DP:GQ:PL	0/1:77,56:133:99:1361,0,1773	20	0	1	0
chr1	119837308	119837308	-	G	exonic	NBPF7	.	frameshift insertion	NBPF7:NM_001047980:exon6:c.889dupC:p.Q297Pfs*15,	.	.	439	1073	9	1	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0006	0.0002	0.0005	0.0001	0	0.0010	0	0.0001	0.0001153	3	26028	rs768412597	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0004	0.0089	0.0081	0.0007	0.0006	0.0018	2.565e-05	0	0.0111	0.0004	0.0010	0.0002	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0026	0	0	0.0068	0.0005	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.94	44	chr1	119837308	.	T	TG	1203.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=821;ExcessHet=0.0000;FS=16.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.989;SOR=1.222	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1218,0,1579	20	0	1	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G,	.	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8100.66	140	chr1	120809823	.	A	G	8100.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.961e+00;DP=1535;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=0.6412;MLEAC=3;MLEAF=0.071;MQ=44.32;MQRankSum=5.14;QD=24.47;ReadPosRankSum=2.66;SOR=0.600	GT:AD:DP:GQ:PL	1/1:11,180:191:99:4960,199,0	19	1	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H	.	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	404.84	72	chr1	144435839	.	C	G	404.84	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-4.463e+00;DP=1565;ExcessHet=0.7148;FS=12.124;InbreedingCoeff=-0.1183;MLEAC=4;MLEAF=0.100;MQ=31.23;MQRankSum=-1.852e+00;QD=1.07;ReadPosRankSum=2.75;SOR=2.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:80:0|1:144435839_C_G:80,0,3535:144435839	16	0	4	1
chr1	144905921	144905921	G	A	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.C577T:p.R193C	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379140708	0.0001	0.0001	0.0001	0.0001	0.0045	9.459e-05	8.626e-05	0.0027	0.0022	6.455e-05	5.775e-05	0.0002	0	2.045e-05	0.0045	0.0001	0.0002	9.618e-05	6.25e-05	5.953e-05	0.0001	1.427e-05	8.962e-05	3.235e-05	2.424e-05	3.813e-05	2.608e-05	0	0	0	0.0006	0	0	0.0036	8.962e-05	0	0	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.41557	.	.	.	.	.	.	.	0.32622284	0.49922	T	.	.	.	.	.	.	.	.	.	0.502443312018618	0.50166	.	.	.	.	.	0.107092	0.41901	T	.	.	.	.	.	.	.	.	.	0.986801	0.95481	D	.	.	.	.	.	.	.	.	-10.819	0.78656	D	.	.	0.222	0.52833	B	.;.;.	.;.;.	5.524464	0.91810	32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.877000	0.39234	9.774000	0.81567	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	105.0	18	chr1	144905921	.	G	A	105.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=383;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.024;MQ=26.47;MQRankSum=-1.227e+00;QD=5.83;ReadPosRankSum=1.55;SOR=1.329	GT:AD:DP:GQ:PL	0/1:12,6:18:99:119,0,273	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,24:136:94:0|1:145872713_C_G:94,0,4031:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,24:136:94:0|1:145872713_C_G:94,0,4031:145872713	6	0	14	1
chr1	147267466	147267466	G	C	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256338:exon3:c.G324C:p.Q108H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.916	D	0.000	D	0.995	D	0.805	L	-0.93	T	0.342	D	0.643	D	0.549	3.644	18.53	3.77	0.737	3.104	8.868	0.594	0.0595948045717	.	.	4.129e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782452148	1.643e-05	1.642e-05	8.174e-06	2.477e-05	0.0003	1.112e-05	9.34e-06	0.0001	0.0001	0	0	0	0	0	0.0003	0	4.972e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.48186	T	0.03	0.54159	D	0.997	0.70673	D	0.893	0.65201	P	0.000005	0.62929	D	0.065506	0.991796	0.42521	D	1.32	0.33002	L	-0.93	0.75215	T	-2.66	0.56945	D	0.607	0.64818	0.342	0.88219	D	0.643	0.87528	D	10	0.6526125	0.69690	D	0.059595	0.67717	D	0.594	0.83857	0.601	0.73226	0.787728643751	0.78576	0.3249497708403468	0.32407	0.261140476916	0.28668	0.539260268211	0.44340	T	0.078488	0.73112	T	-0.160285	0.26715	T	-0.171822	0.57277	T	0.531777799129486	0.33800	D	0.880812	0.63722	D	0.10990337	0.25981	0.17937788	0.40669	0.10990337	0.25980	0.17937788	0.40668	-6.638	0.52959	T	.	.	0.328	0.59454	B	.;.;.;.	.;.;.;.	2.880335	0.38118	20.7	0.99705775713002665	0.80936	0.97621	0.75959	D	AEFGBI	0.434882	0.49575	N	0.363541317452297	0.59459	4.125391	0.370956191774292	0.59778	4.158872	0.999383127783448	0.39415	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.64	3.77	0.42499	3.074000	0.49763	3.823000	0.39960	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1722:0.0:0.8278:0.0	8.868	0.34454	775	0.48401	.;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1190.98	91	chr1	147267466	.	G	C	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.830e-01;DP=1100;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.68;ReadPosRankSum=-1.737e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:98,57:155:99:1205,0,2464	20	0	1	0
chr1	148953687	148953687	A	C	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001002811:exon1:c.A907C:p.I303L	.	.	439	1059	23	0	1	24	0.0107426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.001	B	.	.	1.000	D	0.035	N	3.12	T	-0.932	T	0.003	T	0.027	-0.760	0.788	0.682	0.086	0.420	8.105	0.081	0.0017778262587	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs146001390	0.0078	0.0080	0.0080	0.0077	0.0086	0.0077	0.0077	0.0084	0.0083	0.0012	0.0029	0.0231	2.587e-05	0.0095	0.0085	0.0086	0.0085	0.0022	0.0065	0.0066	0.0068	0.0063	0.0093	0.0062	0.0061	0.0087	0.0084	0.0016	0.0208	0.0038	0.0262	0	0.0106	0.0102	0.0093	0.0071	0.0004	0.53	0.07025	T	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	0.11730	T	-0.53	0.16393	N	0.14	0.15609	.	.	.	.	.	.	.	0.008189917	0.00186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70293	0.31835	T	.	.	.	.	.	.	.	.	-2.368	0.04940	T	.	.	0.110	0.21877	B	.;.	.;.	1.611311	0.20591	14.82	.	.	.	.	.	.	0.093440	0.18906	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856000	0.27473	1.536000	0.27193	-0.222000	0.07959	0.482000	0.26816	0.763000	0.26639	0.974000	0.55675	.	.	.	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1669.11	37	chr1	148953687	.	A	C	1669.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=807;ExcessHet=0.1072;FS=4.240;InbreedingCoeff=-0.0502;MLEAC=2;MLEAF=0.048;MQ=31.52;MQRankSum=1.97;QD=14.77;ReadPosRankSum=-1.990e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/1:21,29:50:99:836,0,512	19	0	2	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:343,117:460:99:2125,0,9172	1	0	20	0
chr1	149075799	149075799	C	T	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G844A:p.E282K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.491	10.94	-1.18	-0.375	-0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226010000	0.0001	0.0001	0.0001	0.0001	0.0034	9.289e-05	8.785e-05	0.0029	0.0028	3.025e-05	0	0	0.0034	1.896e-05	0	5.527e-06	0	0.0001	4.6e-05	5.249e-05	3.857e-05	5.377e-05	0.0013	2.109e-05	1.527e-05	0.0006	0.0004	0	0	0	0	0.0013	0	0	0	0	0	.	.	.	0.176	0.50226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.07811	-0.9015	0.47835	T	0.007	0.02360	T	5	0.094111264	0.16707	T	0.00278	0.05781	T	.	.	0.341	0.33302	0.303781844768	0.29979	.	.	.	.	0.555922627449	0.46691	T	.	.	.	-0.138949	0.30059	T	-0.437367	0.29104	T	0.425269961357117	0.29885	T	0.811819	0.54093	T	0.062146336	0.12947	0.13218276	0.31726	0.062146336	0.12947	0.13218276	0.31725	-6.112	0.57975	T	.	.	0.134	0.40328	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.341878	0.02439	0.278	0.94196499371567244	0.24428	0.00119	0.00751	N	AEFI	0.040634	0.06071	N	-0.838079253060004	0.12346	0.6011811	-1.03316948180494	0.09061	0.4487454	1.09537333666636E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	-3.896000	0.00383	-2.634000	0.03525	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	259	chr1	149075799	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.94;DP=4095;ExcessHet=0.0000;FS=2.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.78;MQRankSum=1.13;QD=2.65;ReadPosRankSum=1.23;SOR=0.866	GT:AD:DP:GQ:PL	0/1:251,46:297:99:800,0,6797	20	0	1	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C	.	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.561	P	0.03	B	.	.	0.994	N	.	.	4.04	T	-0.891	T	0.003	T	0.617	-0.096	3.531	0.521	-0.507	0.085	.	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	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1244.68	287	chr1	149080125	.	A	C	1244.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.343e+00;DP=3650;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.29;MQRankSum=-1.785e+00;QD=1.65;ReadPosRankSum=-5.750e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:194,42:236:99:398,0,6154	18	0	3	0
chr1	150579406	150579406	G	A	exonic	MCL1	.	nonsynonymous SNV	MCL1:NM_021960:exon1:c.C125T:p.A42V	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.562	P	0.201	B	0.004	N	0.702	D	0.55	N	2.83	T	-1.150	T	0.032	T	0.3	3.983	20.4	4.29	2.218	1.255	12.107	0.109	0.0954116038981	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	7.12e-05	11	154602	rs780046930	7.902e-05	8.003e-05	7.152e-05	8.66e-05	0.0002	6.694e-05	6.26e-05	0.0001	0.0001	3.429e-05	5.465e-05	0	0	0	0.0002	8.129e-05	0	0.0002	3.283e-05	3.281e-05	2.569e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.002	0.72154	D	0.016	0.61642	D	0.295	0.38380	B	0.099	0.36881	B	0.003559	0.00969	N	3.262280	0.702265	0.33433	D	0.975	0.24501	L	2.83	0.28391	T	-0.57	0.42763	N	0.266	0.33030	-1.1500	0.01025	T	0.032	0.13811	T	10	0.082969844	0.13751	T	0.095412	0.76423	D	0.109	0.30843	0.05	0.00095	0.346610688518	0.34274	0.40779733322815936	0.40695	1.45722361223	0.86282	0.835543513298	0.87413	D	0.300713	0.67319	T	-0.365894	0.03807	T	-0.460229	0.26575	T	0.180617272970187	0.19274	T	0.832317	0.50011	T	0.20940018	0.43205	0.346542	0.60321	0.20940018	0.43205	0.346542	0.60320	-4.533	0.31434	T	.	.	0.098	0.40344	B	.;.	.;.	3.745128	0.53647	23.4	0.99891082074569293	0.96513	0.55398	0.29854	D	AEFDBHCIJ	0.204847	0.33125	N	-0.213969096881413	0.32560	1.837549	-0.138230275877425	0.33864	1.941685	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.29	4.29	0.50359	0.571000	0.23372	8.909000	0.78379	0.588000	0.31329	0.825000	0.30060	1.000000	0.68203	0.286000	0.24163	0.0:0.0:1.0:0.0	12.107	0.53117	111	0.95468	.;.	.	.	.	.	.	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	0.02381	1109.98	42	chr1	150579406	.	G	A	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=3.000e-03;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,50:117:99:1124,0,1786	20	0	1	0
chr1	151612258	151612258	-	GGC	exonic	SNX27	.	nonframeshift insertion	SNX27:NM_001330723:exon1:c.57_58insGGC:p.G25_S26insG	.	.	383	1134	5	0	0	5	0.00219974	.	.	447186	Severe_myoclonic_epilepsy_in_infancy	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000599042	0.0048	0	0.0217	0	0.0167	0.0080	0	0.0025	0.0002305	6	26028	rs567208173	0.0042	0.0039	0.0042	0.0042	0.0043	0.0041	0.0041	0.0042	0.0042	0.0005	0.0010	0.0032	0	0.0147	0.0012	0.0043	0.0034	0.0012	0.0043	0.0043	0.0039	0.0047	0.0058	0.0040	0.0039	0.0053	0.0051	0.0010	0	0.0009	0.0026	0.0004	0.0169	0	0.0058	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1327.94	35	chr1	151612258	.	T	TGGC	1327.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=777;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=-1.679e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:38,35:73:99:1342,0,1485	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,25,0:302:99:1|0:152214800_C_T:202,0,11520,1036,11595,12631:152214800	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,24,0:297:99:1|0:152214800_C_T:185,0,11354,1008,11426,12434:152214800	8	0	3	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:536,223,0:759:99:.:.:4877,0,18251,6486,18919,25405	10	0	10	0
chr1	152352765	152352765	T	G	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A5021C:p.H1674P,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.917	P	0.348	B	.	.	1.000	N	2.05	M	3.05	T	-0.985	T	0.011	T	0.405	1.484	10.91	3.18	1.728	.	8.242	0.109	0.00109245991888	0.0027	.	0.0018	0.0003	0.0007	0	0.0002	0.0026	0	0.0019	0.0017141	265	154602	rs151207521	0.0028	0.0028	0.0028	0.0027	0.0033	0.0027	0.0027	0.0032	0.0031	0.0004	0.0014	0.0034	0	9.36e-05	0.0007	0.0033	0.0024	0.0017	0.0019	0.0019	0.0020	0.0018	0.0037	0.0018	0.0017	0.0030	0.0027	0.0007	0	0.0037	0.0029	0	0	0	0.0028	0.0029	0.0002	0.005	0.63226	D	0.086	0.40909	T	0.917	0.50750	P	0.348	0.42747	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.05	0.08721	T	-3.42	0.67241	D	0.283	0.32037	-0.9846	0.33927	T	0.011	0.04181	T	9	0.012544274	0.00269	T	0.001092	0.01287	T	0.109	0.30843	.	.	0.297375071883	0.29337	0.037799850848679935	0.03725	0.241955391217	0.26711	0.264546215534	0.05444	T	0.027056	0.19894	T	-0.525608	0.00408	T	-0.531767	0.19111	T	0.0423269247522343	0.04114	T	0.267973	0.04452	T	0.30340046	0.53208	0.19751173	0.43536	0.30340046	0.53208	0.19751173	0.43535	-9.048	0.68006	D	.	.	0.177	0.38623	B	.	.	1.353119	0.17613	13.27	0.67233467695728	0.08293	0.16344	0.19345	N	AEFBCI	0.053908	0.09755	N	-0.404544111695739	0.25309	1.372964	-0.579637068127529	0.20024	1.077018	3.11811282865166E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.18	3.18	0.35615	0.177000	0.16615	.	.	0.562000	0.28470	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	8.242	0.30829	564	0.70960	.	.	.	.	.	.	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	0.02381	8960.98	34	chr1	152352765	.	T	G	8960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.32;DP=2433;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-3.490e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:307,313:620:99:8975,0,8356	20	0	1	0
chr1	152910295	152910354	AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.498_557del:p.K174_L193del,	.	.	406	1113	2	0	1	3	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0018	0.0015	0.0017	0.0033	0.0016	0.0015	0.0022	0.0018	0.0004	0.0012	0.0034	2.528e-05	0.0014	0.0033	0.0016	0.0024	0.0017	0.0033	0.0036	0.0033	0.0033	0.0054	0.0030	0.0029	0.0044	0.0040	0.0010	0	0.0054	0.0042	0	0.0010	0.0041	0.0046	0.0047	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1076.94	34	chr1	152910294	.	TAGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	T	1076.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=1.22;QD=14.96;ReadPosRankSum=-3.220e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:42,30:72:99:1091,0,1618	20	0	1	0
chr1	152910296	152910325	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.499_528del:p.K174_L183del,	.	.	397	1101	22	0	2	24	0.00989209	.	.	696107	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	.	0.0039	0.0017	0.0030	0	0.0020	0.0053	0.0028	0.0032	0.0009989	26	26028	rs772656711	0.0018	0.0019	0.0016	0.0020	0.0068	0.0017	0.0017	0.0051	0.0045	0.0004	0.0019	0.0031	5.041e-05	0.0020	0.0068	0.0017	0.0029	0.0021	0.0060	0.0068	0.0064	0.0056	0.0091	0.0057	0.0056	0.0085	0.0083	0.0019	0	0.0074	0.0061	0	0.0030	0.0106	0.0091	0.0107	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/2:42,0,30:72:99:1091,1217,2938,0,1720,1618	19	0	1	0
chr1	152910295	152910325	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	0	exonic	IVL	.	.	.	.	.	397	1101	22	0	2	24	0.00989209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1129.03	34	chr1	152910295	.	AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A,*	1129.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.98;DP=887;ExcessHet=0.1072;FS=2.096;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.49;MQRankSum=-1.796e+00;QD=7.24;ReadPosRankSum=1.02;SOR=0.501	GT:AD:DP:GQ:PL	0/2:42,0,30:72:99:1091,1217,2938,0,1720,1618	19	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:17,10,0,0:27:99:334,0,654,389,684,1073,389,684,1073,1073	3	4	8	2
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/4:0,25,0,0,18,0,0:43:99:2064,692,564,1858,681,1782,1858,681,1782,1782,926,0,910,910,799,1858,681,1782,1782,910,1782,1858,681,1782,1782,910,1782,1782	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/4:0,25,0,0,18,0,0:43:99:2064,692,564,1858,681,1782,1858,681,1782,1782,926,0,910,910,799,1858,681,1782,1782,910,1782,1858,681,1782,1782,910,1782,1782	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/4:0,25,0,0,18,0,0:43:99:2064,692,564,1858,681,1782,1858,681,1782,1782,926,0,910,910,799,1858,681,1782,1782,910,1782,1858,681,1782,1782,910,1782,1782	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/4:0,25,0,0,18,0,0:43:99:2064,692,564,1858,681,1782,1858,681,1782,1782,926,0,910,910,799,1858,681,1782,1782,910,1782,1858,681,1782,1782,910,1782,1782	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/4:0,25,0,0,18,0,0:43:99:2064,692,564,1858,681,1782,1858,681,1782,1782,926,0,910,910,799,1858,681,1782,1782,910,1782,1858,681,1782,1782,910,1782,1782	0	1	0	0
chr1	155054342	155054342	A	G	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon6:c.A478G:p.S160G	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.02	B	0.065	B	0.075	N	1.000	D	1.555	L	3.11	T	-1.042	T	0.009	T	0.116	1.556	11.16	2.66	0.918	1.150	5.81	0.045	0.00886300496776	.	.	4.161e-05	0	8.64e-05	0	0	4.516e-05	0.0011	0	3.23e-05	5	154602	rs748898385	3.372e-05	3.352e-05	3.698e-05	3.044e-05	0.0002	2.582e-05	2.326e-05	3.267e-05	2.927e-05	0	2.372e-05	0	0	0	0.0002	4.24e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.26629	T	0.49	0.26467	T	0.011	0.17332	B	0.044	0.27321	B	0.074540	0.21278	N	0.402267	1	0.81001	D	2.295	0.65404	M	3.11	0.08194	T	-2.33	0.51968	N	0.169	0.28498	-1.0425	0.16562	T	0.009	0.03448	T	10	0.20406923	0.36585	T	0.008863	0.23366	T	0.045	0.12272	0.655	0.79276	0.347217280506	0.34334	0.7405884137181207	0.74003	0.226845316457	0.25228	0.347109913826	0.17496	T	0.223474	0.58763	T	-0.382094	0.03022	T	-0.627151	0.10632	T	0.0553025661466652	0.06408	T	0.784922	0.42251	T	0.06467747	0.13746	0.078823924	0.17691	0.06467747	0.13746	0.078823924	0.17691	-6.578	0.58520	T	.	.	0.086	0.31906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.108246	0.26829	17.25	0.98092332926173553	0.38197	0.81587	0.40960	D	AEFDGBI	0.303171	0.41122	N	-0.311002834541067	0.28728	1.587048	-0.207246995268467	0.31274	1.768417	0.999964914296615	0.48965	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	2.66	0.30672	0.916000	0.28273	4.615000	0.44052	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.7798:0.0:0.2202:0.0	5.81	0.17724	218	0.91525	Peptidase M12B, propeptide;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr1	155054342	.	A	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.494e+00;DP=809;ExcessHet=0.0000;FS=2.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.72;SOR=0.893	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1276,0,1295	20	0	1	0
chr1	155191933	155191933	C	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon2:c.G409A:p.G137S	Medullary cystic kidney disease 1, Autosomal dominant	.	443	1076	1	0	2	3	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	1.0	D	0.994	D	0.002	N	1.000	N	-0.55	N	2.11	T	-0.965	T	0.011	T	0.038	-0.067	3.673	-5.88	-3.322	-4.990	3.952	0.103	0.00653422800246	.	.	0	0	0	0	0	0	0	0	.	.	.	rs1222481008	2.727e-05	2.808e-05	1.774e-05	3.727e-05	0.0003	1.996e-05	1.771e-05	0.0002	0.0002	0	0	0	0	0	0.0003	9.6e-06	3.647e-05	0.0003	2.298e-05	2.133e-05	1.47e-05	3.198e-05	0.0005	6.11e-06	2.69e-06	8.695e-05	3.613e-05	2.9e-05	0	0	0	0	0	0	0	0	0.0005	.	.	.	1.0	0.07766	T	.	.	.	.	.	.	0.002278	0.00873	N	4.717970	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.024	0.00882	-0.9654	0.38132	T	0.011	0.04321	T	10	0.048564732	0.04325	T	0.006534	0.17215	T	.	.	0.276	0.22845	0.519533312159	0.51597	0.12388883932846598	0.12314	.	.	0.280402958393	0.07548	T	0.006684	0.06107	T	-0.370519	0.03568	T	-0.770002	0.02768	T	0.0781873775444067	0.09753	T	0.234876	0.08694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.27493	B	.;.;.	.;.;.	-0.640314	0.01465	0.090	0.82260271442365585	0.14100	0.00557	0.02543	N	AEFBI	0.093806	0.18976	N	-1.47446451941878	0.02032	0.08928689	-1.73013384257802	0.01010	0.04529168	0.999999752216489	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.94	-5.88	0.02100	-4.106000	0.00333	-20.000000	0.00162	-0.626000	0.04528	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0972:0.1839:0.449:0.2699	3.952	0.08869	71	0.96981	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	621.98	42	chr1	155191933	.	C	T	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=785;ExcessHet=0.0000;FS=3.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.08;MQRankSum=1.67;QD=15.95;ReadPosRankSum=1.18;SOR=1.402	GT:AD:DP:GQ:PL	0/1:17,22:39:99:636,0,355	20	0	1	0
chr1	155270968	155270968	G	A	exonic	CLK2	.	nonsynonymous SNV	CLK2:NM_001294338:exon2:c.C10T:p.P4S	.	.	414	1101	6	1	0	8	0.00361991	.	.	2330524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	0.937	N	-2.05	N	0.85	T	-0.944	T	0.008	T	0.093	0.230	5.240	4.57	2.551	5.050	7.123	0.101	0.00154113414509	7.7e-05	.	4.948e-05	0	0	0	0	7.504e-05	0	6.06e-05	3.88e-05	6	154602	rs377306413	7.415e-05	7.456e-05	6.138e-05	8.709e-05	8.307e-05	6.27e-05	5.828e-05	6.899e-05	6.394e-05	0	4.484e-05	0	0	1.874e-05	0	8.307e-05	0.0001	4.643e-05	7.222e-05	7.217e-05	5.139e-05	9.398e-05	0.0002	3.968e-05	3.125e-05	9.046e-05	7.011e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.01963	T	0.998	0.02399	T	0.0	0.02946	B	0.0	0.01387	B	0.001549	0.38671	N	0.277120	0.936938	0.26904	N	-1.3	0.00713	N	0.84	0.47477	T	1.27	0.01121	N	0.292	0.33578	-0.9436	0.42041	T	0.008	0.02842	T	10	0.037094444	0.02044	T	0.001541	0.02420	T	0.101	0.28911	.	.	0.143184338766	0.13958	0.12175589888458202	0.12102	0.391853242021	0.40381	0.477790176868	0.35752	T	0.037788	0.24604	T	-0.396225	0.02451	T	-0.591591	0.13528	T	0.058528552901347	0.06935	T	.	.	.	0.051892605	0.09598	0.061061952	0.11730	0.051892605	0.09598	0.061061952	0.11730	-0.71	0.00729	T	.	.	0.070	0.06114	B	.;.;.	.;.;.	2.863341	0.37839	20.6	0.50159114061411592	0.04335	0.92982	0.57028	D	AEFBI	0.438159	0.49767	N	-0.551444855444704	0.20438	1.077434	-0.230687405723185	0.30442	1.714097	0.999989626395671	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	5.080000	0.64267	11.751000	0.95409	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1842:0.0:0.8158:0.0	7.123	0.24632	44	0.97806	.;.;.	.	.	.	.	.	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	0.02381	496.98	41	chr1	155270968	.	G	A	496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=730;ExcessHet=0.0000;FS=1.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.139e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/1:17,18:35:99:511,0,530	20	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	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	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,17,0:102:99:0|1:156011822_G_A:193,0,2685,445,2736,3182:156011822	3	0	10	7
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,47:148:99:.:.:431,0,1960	12	0	8	1
chr1	159809008	159809008	C	T	exonic	FCRL6	.	stopgain	FCRL6:NM_001004310:exon4:c.C367T:p.R123X	.	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	2.072	12.88	-4.25	-0.475	-1.277	3.578	.	.	0.0024	0.00199681	0.0022	0.0004	0.0013	0.0010	0.0003	0.0023	0.0022	0.0054	0.0021669	335	154602	rs145922130	0.0017	0.0017	0.0015	0.0018	0.0109	0.0016	0.0016	0.0088	0.0080	0.0005	0.0016	0.0006	0.0004	0.0003	0.0109	0.0016	0.0018	0.0047	0.0016	0.0016	0.0018	0.0015	0.0048	0.0015	0.0014	0.0033	0.0028	0.0005	0	0.0014	0.0009	0.0008	0.0004	0.0136	0.0025	0.0009	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.005441	0.01079	N	3.036110	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.233	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1661	0.25826	T	-0.0104141	0.69657	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.646380	0.92777	33	0.94286463566834489	0.24586	0.00465	0.02234	N	AEFDBI	0.039168	0.05650	N	-0.363794316794164	0.26767	1.463456	-0.776061364364325	0.15083	0.7914741	0.019726814935807	0.13189	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.54	-4.25	0.03508	-2.320000	0.01200	-12.792000	0.00500	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3509:0.2211:0.0:0.428	3.578	0.07491	912	0.21483	.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	34	chr1	159809008	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1032;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.024;SOR=1.056	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1785,0,2024	20	0	1	0
chr1	160093904	160093904	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.G710A:p.R237Q	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.01	M	2.01	T	-1.014	T	0.093	T	0.333	4.796	27.1	3.74	2.100	6.903	14.832	0.347	0.0124513374642	0.0002	.	2.477e-05	0	8.651e-05	0	0	3.005e-05	0	0	2.59e-05	4	154602	rs376048695	2.531e-05	2.531e-05	2.45e-05	2.613e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.236e-05	0	0	0	0	3.058e-05	3.311e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000164	0.48594	D	0.081011	0.999995	0.58761	D	2.715	0.79425	M	2.01	0.21291	T	-3.69	0.71762	D	0.544	0.57177	-1.0139	0.25688	T	0.093	0.35309	T	10	0.71545184	0.73316	D	0.012451	0.31033	T	0.347	0.66863	.	.	0.502191834036	0.49857	0.8750473069461401	0.87471	0.657864007045	0.58718	0.709457039833	0.68514	T	0.429651	0.77838	T	-0.142974	0.29417	T	-0.312697	0.43369	T	0.965403497219086	0.67257	D	0.863414	0.55914	D	0.6515038	0.75445	0.55123574	0.74051	0.6515038	0.75446	0.55123574	0.74051	-10.347	0.75963	D	.	.	0.227	0.53785	B	.;.;.;.	.;.;.;.	5.092273	0.85040	28.5	0.99953086743010422	0.99957	0.99163	0.92158	D	AEFDBI	0.873978	0.79662	D	0.645475101598212	0.76078	6.420285	0.575611271533166	0.73195	5.931086	0.999999999200333	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	7.511000	0.80606	3.301000	0.37383	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.801000	0.37776	0.0:1.0:0.0:0.0	14.832	0.69787	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4311.98	41	chr1	160093904	.	C	T	4311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1029;ExcessHet=0.0000;FS=6.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.733;SOR=0.617	GT:AD:DP:GQ:PL	0/1:149,165:314:99:4326,0,3581	20	0	1	0
chr1	200648497	200648497	C	T	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon4:c.G1196A:p.S399N	Orofaciodigital syndrome V, Autosomal recessive	.	438	1078	6	0	0	6	0.00277521	.	.	731989	DDX59-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.000	N	0.773	N	-0.85	N	3.67	T	-0.954	T	0.098	T	0.103	0.598	7.223	2.2	0.670	2.304	5.418	0.093	.	0.0003	0.000599042	0.0023	0	8.642e-05	0.0027	0.0209	0.0014	0.0121	0.0004	0.001837	284	154602	rs142176836	0.0012	0.0012	0.0012	0.0012	0.0044	0.0012	0.0011	0.0038	0.0036	5.974e-05	4.472e-05	0.0030	0.0044	0.0191	0.0003	0.0003	0.0016	0.0003	0.0022	0.0022	0.0012	0.0032	0.0035	0.0020	0.0019	0.0022	0.0019	4.812e-05	0	0	0.0014	0.0035	0.0253	0	0.0005	0.0014	0.0004	1.0	0.00964	T	1.0	0.06147	T	0.0	0.02946	B	0.003	0.08700	B	0.000011	0.62929	N	0.175925	0.772659	0.29420	N	-1.25	0.00764	N	-0.89	0.74793	T	1.62	0.00728	N	0.17	0.19055	-0.9536	0.40345	T	0.098	0.36625	T	10	0.0063795447	0.00144	T	.	.	.	0.093	0.26882	.	.	0.679564632244	0.67684	0.221576054682905	0.22072	0.161364074687	0.18212	0.383378326893	0.22735	T	0.051582	0.48177	T	-0.489007	0.00658	T	-0.474386	0.25044	T	0.0166809826254144	0.00426	T	0.808619	0.48339	T	0.032324035	0.03236	0.051525693	0.08311	0.043242123	0.06705	0.057601977	0.10500	-5.583	0.42637	T	0.039266365181355393	0.00314	0.077	0.27642	B	.;.;.;.	.;.;.;.	0.970564	0.13477	9.986	0.34652247087131688	0.02131	0.65471	0.32748	D	AEFDBI	0.082923	0.16794	N	-0.703375012187113	0.15926	0.8070129	-0.470327025663278	0.22976	1.250643	0.980282188322745	0.30119	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.5	2.2	0.26966	2.305000	0.43324	0.887000	0.22442	0.589000	0.31548	0.993000	0.37899	0.425000	0.24826	0.998000	0.85391	0.0:0.3862:0.0:0.6138	5.418	0.15683	629	0.65079	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1330.98	33	chr1	200648497	.	C	T	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.180e-01;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.049;SOR=0.740	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1345,0,1722	20	0	1	0
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,35,0:280:99:0|1:201209539_C_G:695,0,9561,1432,9666,11098:201209539	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,58,0:303:99:0|1:201209539_C_G:1441,0,9521,2178,9696,11874:201209539	0	0	5	15
chr1	201209574	201209574	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4681A:p.V1561M,	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	N	0	N	-2.34	D	-0.641	T	0.335	T	0.032	1.162	9.731	0.207	-0.136	0.874	7.689	0.111	0.0424514690007	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199560350	2.2e-06	5.826e-05	0	4.463e-06	8.755e-05	5.9e-07	1.6e-07	2.32e-05	1.243e-05	0	0	0	8.755e-05	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.058	0.37750	T	0.23	0.25135	T	.	.	.	.	.	.	.	.	.	.	1	0.31195	N	.	.	.	-2.34	0.87989	D	-0.18	0.09796	N	0.058	0.02964	-0.6413	0.63091	T	0.335	0.70190	T	6	0.09829211	0.17760	T	0.042451	0.60473	D	0.111	0.31313	.	.	0.418221603839	0.41440	0.4259469644963177	0.42511	.	.	0.345199108124	0.17212	T	.	.	.	-0.208911	0.19532	T	-0.537862	0.18506	T	0.0624787049460526	0.07554	T	0.334067	0.07092	T	.	.	.	.	.	.	.	.	-6.804	0.52589	T	.	.	0.148	0.32804	B	.	.	0.387019	0.07588	4.245	0.90860894993395269	0.20109	0.02096	0.06219	N	AEFBI	0.055340	0.10140	N	-0.931187694329861	0.10118	0.482022	-1.08983207664597	0.07899	0.3861357	4.72183203972467E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	0.207	0.14491	-0.178000	0.09775	-9.871000	0.00766	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2665:0.7335:0.0	7.689	0.27722	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,27,0:383:62:0|1:201209539_C_G:62,0,14867,1134,14948,16082:201209539	12	0	1	7
chr1	201209574	201209574	G	0	exonic	IGFN1	.	.	.	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,27,0:383:62:0|1:201209539_C_G:62,0,14867,1134,14948,16082:201209539	12	0	1	7
chr1	201209577	201209577	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D,	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	-2.33	D	-0.819	T	0.308	T	0.056	0.608	7.274	-1.02	-0.656	0.238	6.065	0.175	0.0190191815074	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266023800	0	5.088e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.341	0.12673	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.62	0.18248	N	0.062	0.03392	-0.8192	0.53984	T	0.308	0.67831	T	6	0.07540259	0.11648	T	0.019019	0.41266	T	0.175	0.44197	.	.	0.319970858106	0.31615	0.26554459910632044	0.26467	.	.	0.361872196198	0.19658	T	.	.	.	-0.213361	0.18908	T	-0.544255	0.17882	T	0.0424012125872128	0.04128	T	0.20408	0.02372	T	.	.	.	.	.	.	.	.	-5.531	0.42157	T	.	.	0.106	0.19800	B	.	.	-0.816030	0.01075	0.047	0.80079953806396409	0.13035	0.00057	0.00426	N	AEFBI	0.026151	0.01914	N	-1.29212876401835	0.03769	0.1689677	-1.44933870245113	0.02776	0.1282977	1.29537362201582E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-1.02	0.09618	-2.873000	0.00788	-3.768000	0.02550	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6681:0.0:0.3319:0.0	6.065	0.19081	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,28,0:392:80:0|1:201209539_C_G:80,0,15059,1176,15143,16319:201209539	14	0	1	5
chr1	201209577	201209577	A	0	exonic	IGFN1	.	.	.	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,28,0:392:80:0|1:201209539_C_G:80,0,15059,1176,15143,16319:201209539	14	0	1	5
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS,	.	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8560.35	257	chr1	201209836	.	T	TGGGTTC	8560.35	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.74;DP=6643;ExcessHet=0.7148;FS=1.833;InbreedingCoeff=0.0162;MLEAC=4;MLEAF=0.100;MQ=52.22;MQRankSum=-7.702e+00;QD=5.90;ReadPosRankSum=-4.416e+00;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,125:281:99:.:.:2381,0,4261	16	0	4	1
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:157,0,110:267:99:.:.:2377,3094,9360,0,4908,4285	0	0	3	14
chr1	203056459	203056459	C	T	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon18:c.C2191T:p.R731W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.972	D	0.019	N	1.000	D	2.69	M	1.73	T	-0.742	T	0.178	T	0.441	4.270	22.3	4.78	2.489	2.331	14.502	0.188	0.0366883949688	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549873910	5.473e-06	6.156e-06	5.445e-06	5.501e-06	2.237e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	2.237e-05	0	0	0	0	5.396e-06	0	1.159e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.0	0.91255	D	0.002	0.83351	D	0.998	0.73220	D	0.858	0.61127	P	0.018942	0.27366	N	0.172599	0.99983	0.49637	D	3.02	0.86243	M	1.73	0.26445	T	-6.5	0.91609	D	0.605	0.70088	-0.7418	0.58360	T	0.178	0.52287	T	10	0.38612157	0.54553	T	0.036688	0.57148	D	0.188	0.46444	.	.	0.574808824563	0.57149	0.684857891049249	0.68424	0.469305455686	0.46242	0.397463917732	0.24717	T	0.321278	0.77907	T	-0.10417	0.35733	T	-0.304544	0.44242	T	0.979580223560333	0.72907	D	0.983302	0.94707	D	0.5822565	0.71731	0.5012691	0.71168	0.5822565	0.71732	0.5012691	0.71168	-11.445	0.82043	D	.	.	0.097	0.25656	B	.;.;.;.;.	.;.;.;.;.	5.928937	0.94093	33	0.99929341220189927	0.99279	0.91851	0.54400	D	AEFDBCI	0.758487	0.69711	D	0.63687538898082	0.75524	6.320861	0.583547335814751	0.73760	6.023578	0.999999934606265	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	2.486000	0.44917	5.895000	0.50812	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1469:0.853:0.0:0.0	14.502	0.67307	824	0.40336	.;.;.;.;.	.	.	.	.	.	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	0.02381	1697.98	35	chr1	203056459	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=905;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.213;SOR=0.618	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1712,0,1659	20	0	1	0
chr1	203225047	203225047	C	A	splicing	CHIT1	NM_003465:exon4:c.314+1G>T	.	.	.	.	415	1106	1	0	0	1	0.000451875	1.0000	0.918	620713	not_provided|Chitotriosidase_deficiency	MedGen:C3661900|MedGen:C3279902,OMIM:614122	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.985	15.95	4.74	2.136	3.549	15.240	.	.	7.7e-05	.	0.0002	0	0.0003	0	0	0.0003	0	0	0.000194	30	154602	rs201510066	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0005	0.0001	0	0	0.0016	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	2.415e-05	0	0.0009	0	0	0	0.0032	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181262	0.72158	D	0.328571	0.89450	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.201858	0.63414	24.6	0.99541087938014616	0.70523	0.98689	0.85611	D	AEFGBI	.	.	.	1.00049399455304	0.95759	13.93657	0.802915486676292	0.89994	10.21061	0.999999999997125	0.74766	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	0.963591	0.67260	4.74	4.74	0.59717	6.138000	0.71473	3.289000	0.37290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:1.0:0.0:0.0	15.240	0.73152	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1374.98	36	chr1	203225047	.	C	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=824;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-3.500e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1389,0,1173	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,16:113:36:0|1:204444146_C_T:36,0,3094:204444146	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,16:113:36:0|1:204444146_C_T:36,0,3094:204444146	12	0	8	1
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q	.	.	278	1240	3	1	0	5	0.00201207	.	.	75261	not_specified|Congenital_anomalies_of_kidney_and_urinary_tract_1|not_provided	MedGen:CN169374|Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.986	D	0.000	D	1.000	D	1.3	L	-1.44	T	0.134	D	0.610	D	0.517	5.313	34	5.24	2.458	4.131	16.596	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	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	0.02381	1279.98	34	chr1	205211450	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=791;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.970e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/1:41,53:94:99:1294,0,943	20	0	1	0
chr1	205419237	205419237	G	T	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.C198A:p.D66E	.	.	429	1092	1	0	0	1	0.000457666	.	.	2397472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.041	B	0.047	B	0.985	N	1.000	N	0.805	L	0.72	T	-0.982	T	0.101	T	0.017	2.106	13.00	2.16	0.889	0.059	3.484	0.076	0.0122183968959	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0	9.06e-05	14	154602	rs760767068	5.815e-05	5.814e-05	5.582e-05	6.051e-05	0.0005	4.81e-05	4.431e-05	0.0001	7.544e-05	0	0.0002	0.0004	0	0	0.0005	5.306e-05	6.624e-05	2.319e-05	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0001	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.412e-05	0	0.0001	0.0003	0	0	0	7.349e-05	0	0	0.162	0.23541	T	0.058	0.46182	T	0.041	0.21357	B	0.026	0.24832	B	0.985067	0.08068	N	0.993248	1	0.08975	N	0.895	0.22405	L	0.72	0.58176	T	-1.98	0.45769	N	0.083	0.05929	-0.9821	0.34515	T	0.101	0.37366	T	10	0.03466314	0.01683	T	0.012218	0.30597	T	0.076	0.22200	0.19	0.10039	0.221019684889	0.21715	0.05961590987441836	0.05901	0.0270007444614	0.02760	0.284455627203	0.08122	T	0.015428	0.12940	T	-0.49142	0.00638	T	-0.688622	0.06469	T	0.0128154983108049	0.00218	T	0.49795	0.20917	T	0.05340486	0.10101	0.07478595	0.16396	0.05340486	0.10101	0.07478595	0.16396	-3.728	0.20223	T	.	.	0.191	0.41171	B	.;.;.;.	.;.;.;.	1.277229	0.16768	12.75	0.92922408411072566	0.22484	0.05078	0.10873	N	AEFBI	0.062964	0.12137	N	-0.790468423961063	0.13558	0.6687431	-0.798012036858835	0.14543	0.7604607	0.0269867885769923	0.13746	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.25	2.16	0.26663	0.070000	0.14440	1.368000	0.25934	0.676000	0.76740	0.000000	0.06391	0.016000	0.20520	0.147000	0.20199	0.091:0.1706:0.5619:0.1766	3.484	0.07178	863	0.32847	.;.;.;.	.	.	.	.	.	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	0.02381	556.98	34	chr1	205419237	.	G	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=747;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.373;SOR=0.340	GT:AD:DP:GQ:PL	0/1:32,24:56:99:571,0,848	20	0	1	0
chr1	205918866	205918866	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon19:c.G2230A:p.V744M	.	.	421	1068	33	0	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.958	D	0.288	B	0.159	N	1.000	N	0.695	N	-3.13	D	-0.033	T	0.631	D	0.12	1.411	10.65	5.09	2.512	2.596	16.650	0.218	.	0.0012	0.00359425	0.0033	0.0002	0.0024	0.0009	0.0002	0.0022	0.0011	0.0132	0.0030271	468	154602	rs3811428	0.0022	0.0022	0.0017	0.0028	0.0165	0.0022	0.0022	0.0138	0.0134	0.0003	0.0019	0.0014	0.0019	7.489e-05	0.0165	0.0014	0.0033	0.0143	0.0014	0.0014	0.0012	0.0017	0.0141	0.0013	0.0012	0.0114	0.0104	0.0003	0	0.0012	0.0003	0.0008	0	0.0102	0.0015	0.0028	0.0141	0.026	0.46910	D	0.035	0.52389	D	0.958	0.54977	D	0.212	0.37394	B	0.158721	0.17732	N	0.532850	1	0.08975	N	0.345	0.11182	N	-3.19	0.93170	D	-0.38	0.13418	N	0.121	0.11626	-0.0334	0.81558	T	0.631	0.87058	D	10	0.004286289	0.00086	T	.	.	.	0.218	0.51265	.	.	0.463758542814	0.46003	0.2079003846332552	0.20706	0.316868486577	0.33939	0.359819203615	0.19359	T	0.048957	0.28168	T	-0.369372	0.03626	T	-0.291678	0.45598	T	0.0199713690935827	0.00698	T	0.610439	0.23144	T	0.04091638	0.05928	0.06968265	0.14711	0.04091638	0.05928	0.06968265	0.14710	-4.697	0.33367	T	.	.	0.085	0.15206	B	.;.;.	.;.;.	1.401607	0.18160	13.58	0.98484900196720704	0.42025	0.50306	0.28632	D	AEFGBCI	0.179596	0.30689	N	-0.191187549987939	0.33500	1.901282	-0.237078801735528	0.30219	1.699585	0.999999999805781	0.74766	0.533608	0.22052	0	0.615948	0.52940	0	0.547309	0.15389	0	0.638833	0.57524	0	.	.	5.09	5.09	0.68647	1.906000	0.39518	0.606000	0.19981	0.599000	0.40250	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	16.650	0.85044	847	0.35998	.;.;.	.	.	.	.	.	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	0.04762	2462.11	34	chr1	205918866	.	C	T	2462.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.600e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1087,0,1450	19	0	2	0
chr1	206866365	206866365	G	T	splicing	IL20	NM_001385166:exon4:c.225+1G>T;NM_001385167:exon5:c.225+1G>T;NM_001385165:exon3:c.225+1G>T;NM_018724:exon3:c.225+1G>T	.	.	.	.	424	1095	3	0	0	3	0.00136799	0.9999	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.043	12.79	4.93	2.455	4.609	14.017	.	.	0.0007	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0003	0.0005757	89	154602	rs138566326	0.0007	0.0007	0.0007	0.0007	0.0024	0.0007	0.0006	0.0015	0.0012	0.0002	0.0006	0.0056	0	9.36e-05	0.0024	0.0007	0.0010	0.0003	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0004	0.0002	0	0.0003	0.0049	0	0	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.108755	0.34975	T	-0.0240808	0.68760	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.291739	0.94957	34	0.99363331889252759	0.61113	0.86974	0.46379	D	ALL	.	.	.	0.958396634518162	0.94313	12.66179	0.756349683868702	0.86629	8.951457	0.999999999999984	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.959397	0.65018	4.93	4.93	0.64394	5.062000	0.64156	11.522000	0.93050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.600000	0.31387	0.0:0.0:1.0:0.0	14.017	0.64044	684	0.59539	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2069.98	38	chr1	206866365	.	G	T	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-1.620e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:82,84:166:99:2084,0,2044	20	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I,	.	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.959	D	0.344	B	0.000	N	0.646	D	1.915	M	2.3	T	-1.000	T	0.029	T	0.074	2.275	13.56	4.61	1.334	0.382	8.417	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	38	chr1	206937104	.	C	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-6.800e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1242,0,1008	20	0	1	0
chr1	212836041	212836041	G	A	exonic	SPATA45	.	stopgain	SPATA45:NM_001024601:exon2:c.C109T:p.R37X,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.844	19.53	-0.233	-0.046	1.186	4.464	.	.	7.7e-05	0.0257588	0.0087	0.0002	8.639e-05	0.1175	0	0.0001	0.0022	0.0014	0.0081564	1261	154602	rs80161538	0.0029	0.0029	0.0030	0.0028	0.0916	0.0028	0.0028	0.0891	0.0881	0.0001	0.0002	0.0003	0.0916	1.873e-05	0.0003	9.548e-05	0.0053	0.0017	0.0043	0.0043	0.0040	0.0046	0.1167	0.0040	0.0039	0.1089	0.1059	0.0002	0	0.0011	0	0.1167	0	0	0.0001	0.0029	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.000042	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.048	0.01999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146057	0.68898	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.418970	0.96497	36	0.99245540109520503	0.56695	0.34876	0.25170	N	AEFDIJ	0.159358	0.28515	N	0.0636545556546078	0.44772	2.745279	-0.143533436663431	0.33657	1.927629	7.74361718647991E-6	0.01202	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.71	-0.233	0.12433	1.184000	0.31663	2.505000	0.33046	-0.808000	0.03092	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:0.1867:0.3576:0.4558	4.464	0.11100	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	0.02381	1998.98	36	chr1	212836041	.	G	A	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=945;ExcessHet=0.0000;FS=5.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.487e+00;SOR=1.023	GT:AD:DP:GQ:PL	0/1:56,79:135:99:2013,0,1302	20	0	1	0
chr1	214642149	214642149	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.A3811G:p.K1271E,	Stromme syndrome, Autosomal recessive	.	432	1077	13	0	0	13	0.00599908	.	.	427696	CENPF-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.976	D	0.541	P	0.123	N	1.000	N	.	.	1.9	T	-1.086	T	0.035	T	0.148	0.280	5.517	3.92	0.763	1.450	7.288	0.079	0.0086182124351	0.0030	0.00119808	0.0027	0.0008	0.0014	0.0002	0.0009	0.0041	0.0033	0.0015	0.0028913	447	154602	rs62000407	0.0030	0.0030	0.0031	0.0030	0.0083	0.0030	0.0029	0.0064	0.0058	0.0004	0.0013	0.0010	5.04e-05	0.0010	0.0083	0.0036	0.0022	0.0014	0.0023	0.0023	0.0025	0.0021	0.0039	0.0021	0.0021	0.0035	0.0034	0.0008	0	0.0016	0.0020	0	0.0005	0.0102	0.0039	0.0038	0.0017	0.036	0.43393	D	0.411	0.14500	T	0.976	0.58310	D	0.541	0.48869	P	0.123087	0.18931	N	0.382752	1	0.08975	N	.	.	.	1.9	0.23486	T	-1.85	0.43334	N	0.202	0.22357	-1.0858	0.06263	T	0.035	0.15204	T	9	0.006287843	0.00142	T	0.008618	0.22779	T	0.079	0.23065	.	.	0.268211541103	0.26431	0.18739254633946212	0.18657	0.0769811076469	0.08643	0.264490783215	0.05437	T	0.022	0.17156	T	-0.547579	0.00302	T	-0.557831	0.16581	T	0.0198965651380359	0.00690	T	0.519248	0.16884	T	0.11722764	0.27639	0.13956138	0.33296	0.11722764	0.27639	0.13956138	0.33295	-5.465	0.41540	T	.	.	0.113	0.22208	B	.	.	1.242076	0.16382	12.50	0.97647392874809535	0.35114	0.25277	0.22650	N	AEFBCI	0.050955	0.08956	N	-0.270274547983208	0.30301	1.688297	-0.37274030841458	0.25812	1.421866	0.950660706911882	0.27909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.92	0.44525	1.378000	0.33935	2.216000	0.31409	0.731000	0.85647	0.052000	0.21487	0.019000	0.20708	0.949000	0.49496	0.7069:0.1499:0.0:0.1432	7.288	0.25524	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1375.98	38	chr1	214642149	.	A	G	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1384;ExcessHet=0.0000;FS=1.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.078;SOR=0.692	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1390,0,1962	20	0	1	0
chr1	214646928	214646928	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358C:p.R2453T,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.55	N	4.12	T	-0.893	T	0.004	T	0.055	0.020	4.119	1.68	0.088	0.779	5.783	0.040	0.00712553887273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	0.0001	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.155	0.31936	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.12	0.02891	T	-1.2	0.30555	N	0.086	0.06322	-0.8929	0.48677	T	0.004	0.01400	T	10	0.042184114	0.02943	T	0.007126	0.18896	T	0.040	0.10527	.	.	0.0611884634855	0.05136	0.0757247840033901	0.07508	0.0964886587777	0.10898	0.305488526821	0.11225	T	.	.	.	-0.357922	0.04248	T	-0.751907	0.03412	T	0.078707791864872	0.09821	T	0.586341	0.21412	T	0.023646625	0.01122	0.026679387	0.00771	0.023646625	0.01122	0.026679387	0.00771	-0.003	0.00350	T	.	.	0.053	0.00280	B	.	.	0.422405	0.07928	4.638	0.30367532224271809	0.01657	0.11969	0.16977	N	AEFBCI	0.060270	0.11442	N	-1.24191438059187	0.04407	0.1988328	-1.17781697995167	0.06282	0.3018846	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.03125	297.36	50	chr1	214646928	.	G	C	297.36	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.346e+00;DP=1200;ExcessHet=0.0000;FS=103.626;InbreedingCoeff=-0.1088;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=4.07;ReadPosRankSum=2.52;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,19:73:99:0|1:214646928_G_C:309,0,2107:214646928	15	0	1	5
chr1	214646930	214646930	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7360C:p.V2454L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.002	B	0.003	B	0.567	N	1.000	N	1.245	L	4.14	T	-0.931	T	0.006	T	0.188	1.611	11.34	-6.04	-0.716	-0.317	3.579	0.026	0.00381706677572	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.204e-05	0.0007	2.469e-05	1.937e-05	2.72e-05	1.595e-05	1.365e-05	1.929e-05	1.674e-05	0	0	0	0	0	0	2.72e-05	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.487	0.11656	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.12	0.08809	N	0.073	0.04668	-0.9310	0.43992	T	0.006	0.02093	T	10	0.0506604	0.04832	T	0.003817	0.08930	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.042620842135663806	0.04207	0.0532628163546	0.05870	0.319711267948	0.13377	T	.	.	.	-0.296986	0.08946	T	-0.664376	0.07973	T	0.0218487251549959	0.00892	T	0.460354	0.13329	T	0.018291825	0.00350	0.023291185	0.00344	0.018291825	0.00350	0.023291185	0.00344	-5.111	0.38023	T	.	.	0.141	0.30997	B	.	.	-0.701800	0.01316	0.072	0.77479503225080271	0.11893	0.09240	0.15036	N	AEFBCI	0.049360	0.08519	N	-1.32844011772452	0.03354	0.1496695	-1.42160385817231	0.03037	0.1408993	0.998312909651027	0.36741	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-6.04	0.01995	-0.544000	0.06166	0.537000	0.19299	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.5449:0.1791:0.1778:0.0981	3.579	0.07497	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1667	297.28	43	chr1	214646930	.	G	C	297.28	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.275e+00;DP=992;ExcessHet=0.0000;FS=104.040;InbreedingCoeff=-0.3126;MLEAC=3;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.86;ReadPosRankSum=2.47;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,19:77:99:0|1:214646928_G_C:297,0,2217:214646928	2	0	1	18
chr1	214646931	214646931	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T7361C:p.V2454A,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.435	B	0.057	B	0.567	N	1.000	N	1.59	L	4.0	T	-0.965	T	0.012	T	0.19	1.993	12.62	4.15	0.916	2.501	11.743	0.070	0.00974191051461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.159e-06	4.797e-05	2.875e-06	1.441e-06	2.847e-06	5.8e-07	1.6e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.847e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.072	0.43344	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.0	0.03239	T	-1.36	0.33798	N	0.179	0.19325	-0.9649	0.38230	T	0.012	0.04795	T	10	0.092561364	0.16310	T	0.009742	0.25427	T	0.070	0.20419	.	.	0.152612264143	0.14878	0.04371255466377703	0.04316	0.0909071673723	0.10264	0.333911955357	0.15524	T	.	.	.	-0.242065	0.15086	T	-0.585486	0.14060	T	0.237755138924087	0.22315	T	0.333767	0.07077	T	0.046866454	0.07918	0.049815547	0.07689	0.046866454	0.07917	0.049815547	0.07688	-6.837	0.52834	T	.	.	0.139	0.30529	B	.	.	0.689044	0.10575	7.283	0.87599106332301113	0.17343	0.46589	0.27793	N	AEFBCI	0.075119	0.15077	N	-0.562916688312051	0.20081	1.055942	-0.606986143950877	0.19313	1.035632	0.992357406538036	0.32809	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	4.15	0.47978	1.863000	0.39097	0.125000	0.14969	0.644000	0.52426	0.011000	0.18532	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.1478:0.8522	11.743	0.51072	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.25	302.15	43	chr1	214646931	.	T	C	302.15	.	AC=1;AF=0.250;AN=4;BaseQRankSum=-2.638e+00;DP=993;ExcessHet=0.0000;FS=107.433;InbreedingCoeff=-0.3335;MLEAC=3;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.98;ReadPosRankSum=2.42;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,19:76:99:0|1:214646928_G_C:300,0,2210:214646928	1	0	1	19
chr1	216196690	216196690	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon19:c.C4114T:p.P1372S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.242	B	0.135	B	0.063	N	1.000	N	1.455	L	0.51	T	-1.008	T	0.111	T	0.24	1.482	10.90	0.816	-0.081	1.518	8.540	0.044	0.0200889188104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238218662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.24090	T	0.079	0.42086	T	0.126	0.30930	B	0.077	0.33210	B	0.063196	0.22043	N	0.322809	1	0.08975	N	2.155	0.60227	M	0.51	0.55439	T	-2.5	0.57762	D	0.288	0.32591	-1.0079	0.27572	T	0.111	0.39888	T	10	0.27650487	0.45213	T	0.020089	0.42610	T	0.044	0.11924	0.307	0.27806	0.840474865628	0.83894	0.3102111697246121	0.30934	0.0443795033978	0.04785	0.338540047407	0.16219	T	0.225741	0.59056	T	-0.161963	0.26460	T	-0.470425	0.25471	T	0.505415797233582	0.32828	D	0.725127	0.33902	T	0.044708733	0.07193	0.08010328	0.18091	0.044708733	0.07192	0.08010328	0.18090	-5.239	0.43542	T	0.818241376983881	0.89179	0.113	0.29642	B	.;.	.;.	0.588813	0.09571	6.348	0.74043673421378331	0.10549	0.65661	0.32812	D	AEFI	0.116323	0.22834	N	-0.643086739975951	0.17662	0.9107448	-0.644909326722461	0.18346	0.9795938	1.29157689798698E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	0.816	0.17909	1.584000	0.36199	0.803000	0.21677	0.676000	0.76740	0.957000	0.33433	0.173000	0.23359	0.148000	0.20235	0.1272:0.354:0.5188:0.0	8.540	0.32549	855	0.34697	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1030.98	34	chr1	216196690	.	G	A	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=757;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-1.540e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1045,0,793	20	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:55,25:80:90:90,0,843	9	0	7	5
chr1	224379079	224379079	T	C	exonic	CNIH4	.	nonsynonymous SNV	CNIH4:NM_001277200:exon5:c.T403C:p.C135R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	.	.	1.000	N	.	.	1.15	T	-1.019	T	0.044	T	0.1	-0.827	0.606	-3.59	-1.448	-0.863	4.456	0.022	0.00147417454252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.48769	T	0.44	0.04776	N	0.064	0.05670	-1.0187	0.24139	T	0.044	0.18865	T	6	0.043510914	0.03208	T	0.001474	0.02241	T	0.022	0.04323	0.137	0.04097	0.128392430309	0.12331	.	.	.	.	.	.	.	0.007095	0.06517	T	-0.269931	0.11765	T	-0.625513	0.10758	T	0.0292048071073364	0.01868	T	0.232077	0.03147	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.41156	B	.;.	.;.	0.039907	0.04565	1.248	0.28684686720502772	0.01485	0.06191	0.12176	N	AEFDGBHCI	0.050524	0.08839	N	-1.4747123625101	0.02030	0.08920189	-1.67947618018771	0.01231	0.05545411	0.999998632986991	0.74766	0.706298	0.61202	0	0.57239	0.20480	2	0.709663	0.75317	0	0.636168	0.56350	0	.	.	2.52	-3.59	0.04290	-0.883000	0.04278	-0.121000	0.11721	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2343:0.3162:0.4495	4.456	0.11063	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1290.98	37	chr1	224379079	.	T	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.580;SOR=0.723	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1305,0,1310	20	0	1	0
chr1	225519349	225519349	-	TCCAGGCGTTCCTGCCGC	exonic	ENAH	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.650_651insGCGGCAGGAACGCCTGGA:p.L222_D223insERQERL	.	.	438	957	106	11	10	138	0.0626836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5434.36	33	chr1	225519331	.	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC,A	5434.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.580e-01;DP=1490;ExcessHet=0.3300;FS=3.132;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.11;ReadPosRankSum=-1.450e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/2:58,0,52:110:99:1964,2139,4537,0,2398,2226	18	0	1	0
chr1	228294842	228294842	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon43:c.G11458A:p.V3820M	.	.	0	1521	1	0	0	1	0.000328623	.	.	1789303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.772	P	0.617	N	1.000	N	1.7	L	3.42	T	-0.953	T	0.041	T	0.324	3.064	16.23	1.59	-0.108	0.078	12.982	0.108	0.0029611393849	8.2e-05	.	4.971e-05	0	0	0.0005	0	1.5e-05	0	6.056e-05	3.88e-05	6	154602	rs371818048	2.875e-05	2.873e-05	1.634e-05	4.129e-05	0.0002	2.153e-05	1.909e-05	0.0001	0.0001	2.989e-05	6.734e-05	0	0.0002	1.873e-05	0	1.08e-05	1.657e-05	0.0002	4.601e-05	4.595e-05	2.573e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.012	0.69154	D	0.137	0.64070	B	0.027	0.56930	B	0.617039	0.05734	N	1.210850	1	0.08975	N	0.795	0.19620	N	3.42	0.05507	T	-0.73	0.21644	N	0.093	0.09914	-0.9528	0.40485	T	0.041	0.17488	T	10	0.11753315	0.22198	T	0.002961	0.06309	T	0.108	0.30607	.	.	0.0954503805726	0.09146	0.05251743736582365	0.05193	0.0931597170186	0.10528	0.218760341406	0.01239	T	0.031219	0.21942	T	-0.449387	0.01139	T	-0.574422	0.15046	T	0.0319732121479949	0.02302	T	0.0372963	0.00314	T	0.034858607	0.03992	0.05739778	0.10427	0.034858607	0.03991	0.05739778	0.10426	-5.078	0.42820	T	.	.	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	0.729372	0.10985	7.647	0.79170518590379479	0.12622	0.00127	0.00790	N	AEFBI	0.024789	0.01590	N	-1.18676425350641	0.05200	0.2364685	-1.28121666968211	0.04684	0.2215374	1.55386502629633E-4	0.05650	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.22	1.59	0.22622	0.224000	0.17520	-0.417000	0.09309	-2.657000	0.00221	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8641:0.0:0.1359:0.0	12.982	0.57974	437	0.80299	.;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	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4620.98	48	chr1	228294842	.	G	A	4620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=1224;ExcessHet=0.0000;FS=4.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.544;SOR=0.909	GT:AD:DP:GQ:PL	0/1:177,169:346:99:4635,0,4523	20	0	1	0
chr1	228316781	228316781	G	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon51:c.G13358T:p.C4453F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.001	N	1.000	D	2.925	M	0.27	T	0.858	D	0.827	D	0.955	3.072	16.26	5.14	2.390	6.584	18.622	0.794	0.209509538532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.001386	0.39175	N	0.227168	0.998904	0.51612	D	3.18	0.88827	M	-2.14	0.86415	D	-6.88	0.96992	D	0.582	0.60325	0.858	0.95126	D	0.827	0.94175	D	10	0.98826367	0.99235	D	0.20951	0.87203	D	0.794	0.93227	0.893	0.97460	0.942117216239	0.94151	0.7156316086333699	0.71506	0.607561866137	0.55563	0.662814259529	0.61812	T	0.308744	0.68082	T	0.437842	0.91917	D	0.391153	0.91817	D	0.992348313331604	0.82800	D	0.818018	0.47523	T	0.95633566	0.96909	0.88010913	0.93569	0.95633566	0.96909	0.88010913	0.93569	-14.448	0.94421	D	.	.	0.648	0.70840	P	.;.;.;.;.	.;.;.;.;.	3.845526	0.55678	23.6	0.92340639358589494	0.21739	0.92106	0.54958	D	AEFDBI	0.631728	0.61260	D	0.551835126819103	0.70195	5.465832	0.404124546259846	0.61821	4.387757	0.985233411427221	0.30852	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	6.744000	0.74653	11.373000	0.92611	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0:1.0:0.0	18.622	0.91279	443	0.79878	.;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2084.98	46	chr1	228316781	.	G	T	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.045e+00;DP=1224;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.95;ReadPosRankSum=0.194;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,54:110:99:0|1:228316771_T_C:2099,0,2189:228316771	20	0	1	0
chr1	232432377	232432377	C	T	exonic	SIPA1L2	.	nonsynonymous SNV	SIPA1L2:NM_001377488:exon16:c.G4126A:p.G1376R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.883	P	0.151	B	0.142	N	1.000	N	1.1	L	2.76	T	-0.892	T	0.204	T	0.149	0.704	7.753	1.43	0.076	-0.333	6.398	0.019	0.0801955270549	.	0.000199681	0.0001	0	0	0.0003	0	8.991e-05	0	0.0003	0.0001164	18	154602	rs544460997	7.388e-05	7.388e-05	7.487e-05	7.288e-05	0.0008	6.248e-05	5.807e-05	0.0006	0.0005	2.987e-05	0	0	0.0008	1.872e-05	0.0003	4.766e-05	0.0001	0.0002	6.568e-05	6.563e-05	3.856e-05	9.403e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0002	2.407e-05	0	0	0	0.0010	0	0	4.41e-05	0	0.0002	0.073	0.46513	T	0.505	0.28764	T	0.133	0.48537	B	0.045	0.34210	B	0.142278	0.18249	N	0.589538	1	0.08975	N	1.79	0.46772	L	-1.19	0.78427	T	-0.87	0.23590	N	0.225	0.26354	-0.8918	0.48775	T	0.204	0.56238	T	10	0.029105455	0.01039	T	0.080196	0.73407	D	0.019	0.03383	0.242	0.17524	0.134007934775	0.12933	0.4025703856162316	0.40173	0.396760723216	0.40786	0.309873640537	0.11889	T	0.015522	0.13004	T	-0.325429	0.06464	T	-0.413084	0.31869	T	0.0140719418494636	0.00273	T	0.891911	0.65732	D	0.04984589	0.08915	0.057698965	0.10533	0.04984589	0.08915	0.057698965	0.10533	-4.462	0.30388	T	.	.	0.190	0.44306	B	.;.;.	.;.;.	1.184042	0.15749	12.07	0.9152685912197166	0.20803	0.04066	0.09518	N	AEFBHI	0.070290	0.13948	N	-0.875939874309868	0.11416	0.5508387	-0.916433928624017	0.11707	0.5980437	0.999136308641047	0.38535	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.92	1.43	0.21585	-0.374000	0.07541	-2.963000	0.03187	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.0:0.4632:0.1208:0.416	6.398	0.20825	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1508.98	40	chr1	232432377	.	C	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-4.780e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1523,0,1549	20	0	1	0
chr1	233258733	233258733	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon5:c.G1129A:p.V377I,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.473	P	0.056	B	.	.	1.000	D	0.805	L	-0.07	T	-0.910	T	0.135	T	0.33	2.776	15.24	4.73	2.601	1.545	13.240	0.040	0.0122234303536	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0	0.0003	0.0011	0.0026	0.0004916	76	154602	rs200242011	0.0004	0.0004	0.0004	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	2.987e-05	0	0	0	0	0.0007	0.0004	0.0003	0.0027	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	9.622e-05	0	0.0003	0	0	0	0	0.0004	0	0.0019	0.173	0.22573	T	0.2	0.27591	T	0.473	0.36591	P	0.056	0.26147	B	.	.	.	.	1	0.81001	D	1.895	0.50365	L	-0.07	0.63738	T	-0.34	0.12661	N	0.24	0.27077	-0.9103	0.46818	T	0.135	0.44914	T	9	0.009449869	0.00213	T	0.012223	0.30597	T	0.040	0.10527	.	.	0.520803792171	0.51724	0.09249744953556223	0.09181	0.191889017422	0.21517	0.483652293682	0.36559	T	0.002555	0.01944	T	-0.382931	0.02985	T	-0.328068	0.41684	T	0.0261129186915027	0.01421	T	0.710029	0.32075	T	0.06018853	0.12321	0.071360685	0.15271	0.06018853	0.12320	0.071360685	0.15271	-1.85	0.02662	T	.	.	0.086	0.10691	B	.	.	2.859455	0.37778	20.6	0.9972119446380846	0.82054	0.87873	0.47565	D	AEFBI	0.052511	0.09379	N	-0.0838857724020712	0.38098	2.22627	0.0152615801131829	0.40422	2.412142	0.993813335549589	0.33367	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	1.540000	0.35721	4.764000	0.44733	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.1588:0.8412:0.0:0.0	13.240	0.59422	899	0.25060	.	.	.	.	.	.	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	0.02381	3435.98	34	chr1	233258733	.	C	T	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.240e-01;DP=925;ExcessHet=0.0000;FS=0.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-4.500e-02;SOR=0.652	GT:AD:DP:GQ:PL	0/1:112,133:245:99:3450,0,2785	20	0	1	0
chr1	235229250	235229250	T	C	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_001206794:exon11:c.A878G:p.D293G	.	.	453	1061	5	3	0	11	0.00515706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.915	D	0.011	N	0.996	D	0	N	-0.46	T	-0.600	T	0.240	T	0.37	2.417	14.04	5.66	2.161	6.560	11.072	0.152	0.0315896028849	0.0016	0.000998403	0.0019	0.0002	0.0002	0	0	0.0017	0.0022	0.0072	0.0018046	279	154602	rs35560967	0.0019	0.0019	0.0017	0.0020	0.0075	0.0018	0.0018	0.0070	0.0068	0.0004	0.0001	0.0028	0	0.0002	0.0047	0.0017	0.0017	0.0075	0.0013	0.0013	0.0014	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0004	0	0.0007	0.0046	0	0	0	0.0019	0.0005	0.0050	0.294	0.24758	T	0.134	0.57104	T	0.993	0.65571	D	0.787	0.57594	P	0.011283	0.29587	N	0.395109	0.995808	0.42925	D	0.695	0.17993	N	-0.46	0.70014	T	-1.55	0.39503	N	0.549	0.57518	-0.6000	0.64817	T	0.240	0.60797	T	10	0.0061780512	0.00139	T	0.03159	0.53633	D	0.152	0.39956	.	.	0.628742050937	0.62570	0.22462516827859838	0.22377	1.39968210037	0.85170	0.754976212978	0.75182	T	0.385857	0.74716	T	-0.333573	0.05846	T	-0.247366	0.50076	T	0.0331767441150181	0.02500	T	0.819518	0.48627	T	0.11201135	0.26467	0.12589608	0.30327	0.11201135	0.26466	0.12589608	0.30326	-6.332	0.48975	T	.	.	0.189	0.48061	B	.;.;.;.	.;.;.;.	4.210652	0.63609	24.6	0.99023296912905323	0.50634	0.98930	0.88779	D	AEGBI	0.501702	0.53443	D	0.312017167359634	0.56765	3.841774	0.44065217930152	0.64120	4.659869	0.999986242531783	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.250000	0.72387	6.226000	0.55175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0746:0.0:0.9254	11.072	0.47225	.	.	.;.;.;.	.	.	.	.	.	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	0.02381	993.98	39	chr1	235229250	.	T	C	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=843;ExcessHet=0.0000;FS=3.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.658e+00;SOR=0.376	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,29:76:99:0|1:235229231_T_C:1008,0,1765:235229231	20	0	1	0
chr1	246850241	246850241	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5765G:p.D1922G	.	.	425	1071	26	0	0	26	0.0119926	.	.	2812929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.01	B	0.009	B	0.112	N	1.000	N	1.32	L	1.37	T	-1.040	T	0.062	T	0.12	1.333	10.37	2.11	0.413	0.919	5.419	0.010	0.0107291142019	0.0032	0.000798722	0.0033	0.0010	0.0015	0	0.0008	0.0046	0.0066	0.0035	0.0032406	501	154602	rs142603415	0.0044	0.0044	0.0043	0.0045	0.0121	0.0043	0.0043	0.0099	0.0090	0.0014	0.0019	0.0059	0	0.0010	0.0121	0.0048	0.0047	0.0043	0.0031	0.0031	0.0032	0.0029	0.0049	0.0028	0.0027	0.0044	0.0043	0.0015	0	0.0012	0.0040	0.0002	0.0006	0.0102	0.0049	0.0085	0.0023	0.105	0.29823	T	0.12	0.35970	T	0.002	0.09854	B	0.004	0.10090	B	0.111718	0.19388	N	0.534254	1	0.08975	N	2.075	0.57047	M	1.36	0.34452	T	-1.57	0.37955	N	0.148	0.15046	-1.0400	0.17313	T	0.062	0.25780	T	10	0.0028435588	0.00045	T	0.010729	0.27599	T	0.010	0.01040	.	.	0.184605227958	0.18053	0.16709200342744523	0.16629	0.327356970608	0.34875	0.257035255432	0.04544	T	0.152442	0.49284	T	-0.56379	0.00241	T	-0.576082	0.14896	T	0.00445664915698034	0.00048	T	0.474753	0.14169	T	0.075094275	0.16896	0.057518344	0.10469	0.075094275	0.16896	0.057518344	0.10469	-4.57	0.31792	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	1.318808	0.17227	13.04	0.9066290190613534	0.19914	0.17733	0.19964	N	AEFDGBI	0.076501	0.15390	N	-0.792633561883497	0.13500	0.6655449	-0.789202850408164	0.14759	0.7728982	0.991682478203903	0.32573	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	2.11	0.26299	1.100000	0.30637	0.194000	0.15776	0.651000	0.53179	0.042000	0.21073	0.000000	0.08366	0.050000	0.15192	0.0:0.1456:0.2791:0.5753	5.419	0.15689	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1410.98	36	chr1	246850241	.	T	C	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.519;DP=972;ExcessHet=0.0000;FS=4.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=0.855;QD=10.61;ReadPosRankSum=1.58;SOR=1.088	GT:AD:DP:GQ:PL	0/1:78,55:133:99:1425,0,2042	20	0	1	0
chr1	247444671	247444671	C	T	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_183395:exon7:c.C2513T:p.T838M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	0	1502	18	2	0	22	0.00727032	.	.	231492	not_specified|not_provided|NLRP3-related_disorder|Autoinflammatory_syndrome|Cryopyrin_associated_periodic_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.004	N	0.769	D	3.31	M	0.37	T	0.140	D	0.415	T	0.657	3.758	19.08	4.71	2.547	4.808	13.896	0.223	0.0559250876732	0.0007	0.00179712	0.0012	0	0.0027	0	0	0.0010	0.0011	0.0030	0.0011837	183	154602	rs139814109	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0035	0.0034	0.0001	0.0019	0.0033	7.557e-05	0.0001	0.0019	0.0007	0.0011	0.0038	0.0007	0.0007	0.0006	0.0008	0.0060	0.0006	0.0006	0.0043	0.0037	9.628e-05	0	0.0003	0.0040	0	0	0	0.0008	0.0014	0.0060	0.003	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.82059	D	0.004001	0.34245	N	0.135690	0.51581	0.34127	D	.	.	.	0.37	0.57729	T	-4.99	0.84387	D	0.499	0.56919	0.140	0.84880	D	0.415	0.76225	T	10	0.014665842	0.00308	T	0.055925	0.66415	D	0.223	0.52023	.	.	0.953123744604	0.95262	0.8017135601145453	0.80125	1.32499314031	0.83536	0.343625575304	0.16979	T	0.751276	0.93186	D	-0.21955	0.18055	T	-0.0889828	0.64239	T	0.0816429654366961	0.10196	T	0.879912	0.60954	D	0.33443165	0.55831	0.3183049	0.57799	0.3201693	0.54654	0.24169135	0.49571	-8.089	0.64720	D	.	.	0.327	0.57167	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.320669	0.66120	24.9	0.99909413192448038	0.97949	0.95640	0.65534	D	AEFBI	0.591703	0.58770	D	0.782536833620229	0.85002	8.448175	0.686207239297608	0.81330	7.501698	0.999999810104876	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.410000	0.66123	.	.	0.589000	0.31548	0.999000	0.42656	0.999000	0.35428	0.648000	0.32638	0.0:1.0:0.0:0.0	13.896	0.63276	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2419.98	36	chr1	247444671	.	C	T	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=957;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-2.570e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2434,0,2514	20	0	1	0
chr1	248145856	248145856	G	T	exonic	OR2M5	.	nonsynonymous SNV	OR2M5:NM_001004690:exon1:c.G709T:p.A237S,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.432	B	0.344	B	0.111	U	0.948	N	3.195	M	7.87	T	-1.105	T	0.002	T	0.319	3.412	17.53	2.33	0.442	3.403	11.277	0.148	0.0010593077792	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370739680	1.095e-05	1.094e-05	1.634e-05	5.502e-06	0.0002	6.48e-06	5.25e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.432	0.35621	B	0.344	0.42549	B	0.110954	0.19421	U	0.267379	0.947862	0.26587	N	3.285	0.90273	M	7.87	0.00331	T	-2.86	0.60188	D	0.355	0.39659	-1.1050	0.03537	T	0.002	0.00585	T	10	0.22653681	0.39511	T	0.001059	0.01215	T	0.148	0.39182	.	.	0.0297737177859	0.01360	0.038629390422680696	0.03808	0.040642905905	0.04362	0.216988563538	0.01143	T	0.007	0.06227	T	-0.180847	0.23611	T	-0.482064	0.24227	T	0.79268604516983	0.45865	D	0.822018	0.48145	T	0.12029417	0.28310	0.09169481	0.21573	0.12029417	0.28309	0.09169481	0.21572	-7.87	0.60181	D	.	.	0.165	0.36295	B	.	.	2.098323	0.26693	17.21	0.99636898449471767	0.76387	0.84181	0.43264	D	AEFI	0.162081	0.28822	N	-0.0291651043766264	0.40537	2.409114	-0.138429040396921	0.33856	1.941152	0.00544738174765483	0.10940	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.28	2.33	0.27981	4.634000	0.61023	0.494000	0.18929	-0.373000	0.05434	0.998000	0.41325	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.8149:0.185	11.277	0.48407	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4753.98	38	chr1	248145856	.	G	T	4753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-02;DP=1088;ExcessHet=0.0000;FS=5.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.864;SOR=0.961	GT:AD:DP:GQ:PL	0/1:181,183:364:99:4768,0,4457	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:217,0,47:264:99:.:.:1339,1993,11104,0,9112,8950	8	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6403.92	42	chr1	248441544	.	G	A	6403.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.04;DP=2468;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=48.50;MQRankSum=4.58;QD=9.67;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:124,73:197:99:1792,0,3112	17	0	4	0
chr2	9933883	9933883	C	A	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_001318977:exon14:c.C901A:p.L301I	.	.	474	1041	7	0	0	7	0.00335089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.005	B	0.299	N	1.000	N	1.39	L	0.88	T	-1.059	T	0.039	T	0.04	0.900	8.659	-4.64	-0.722	-0.754	3.853	0.007	.	0.0072	0.00519169	0.0027	0.0174	0.0021	0	0	0.0019	0.0011	0.0004	0.002749	425	154602	rs111442552	0.0016	0.0016	0.0016	0.0016	0.0208	0.0015	0.0015	0.0182	0.0177	0.0195	0.0024	0.0088	0	5.617e-05	0.0208	0.0008	0.0048	0.0005	0.0060	0.0060	0.0061	0.0058	0.0168	0.0056	0.0055	0.0157	0.0153	0.0168	0	0.0031	0.0098	0	0	0.0170	0.0014	0.0128	0.0004	0.392	0.10766	T	0.39	0.15506	T	0.008	0.14655	B	0.005	0.11217	B	0.299131	0.03943	N	1.348330	1	0.08975	N	1.555	0.39373	L	0.88	0.46028	T	-0.28	0.11547	N	0.106	0.09066	-1.0589	0.12032	T	0.039	0.16720	T	9	0.0024887323	0.00037	T	.	.	.	0.007	0.00512	.	.	0.158396225186	0.15383	0.09377664092685892	0.09309	0.125861384689	0.14188	0.240375161171	0.02824	T	0.008123	0.07471	T	-0.688955	0.00042	T	-0.748787	0.03534	T	0.00158829461934989	0.00016	T	0.531747	0.17685	T	0.040869363	0.05915	0.031154552	0.01666	0.040869363	0.05915	0.031154552	0.01666	-3.835	0.21328	T	.	.	0.064	0.01738	B	.	.	0.261717	0.06400	2.869	0.83952483406032452	0.15013	0.02127	0.06279	N	AEFBI	0.033020	0.03841	N	-1.16219577407894	0.05582	0.254843	-1.20108002596067	0.05893	0.282098	0.340521237103524	0.19579	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.79	-4.64	0.03109	-0.703000	0.05166	-0.049000	0.12570	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1344:0.4894:0.1455:0.2307	3.853	0.08471	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1238.98	34	chr2	9933883	.	C	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=1.10;SOR=0.772	GT:AD:DP:GQ:PL	0/1:18,49:67:99:1253,0,270	20	0	1	0
chr2	21138038	21138038	C	T	exonic	TDRD15	.	nonsynonymous SNV	TDRD15:NM_001306137:exon4:c.C571T:p.R191C,	.	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	.	.	.	.	2.17	T	-1.016	T	0.047	T	0.479	1.768	11.87	0.823	-0.127	-0.026	5.133	0.069	0.0106146990254	.	0.000798722	0.0011	0.0019	0	0	0	0.0015	0	0.0011	0.0005045	78	154602	rs140081299	0.0025	0.0022	0.0024	0.0026	0.0036	0.0024	0.0023	0.0035	0.0034	0.0004	0.0008	0.0007	0	0.0009	0.0015	0.0036	0.0022	0.0014	0.0017	0.0017	0.0019	0.0015	0.0032	0.0015	0.0015	0.0029	0.0027	0.0005	0	0.0008	0	0	0.0002	0	0.0032	0	0.0010	0.116	0.28395	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.17	0.19020	T	-0.27	0.11366	N	0.148	0.15046	-1.0159	0.25045	T	0.047	0.20077	T	5	0.009122252	0.00206	T	0.010615	0.27345	T	0.069	0.20116	.	.	0.47290127212	0.46918	0.3073515180210649	0.30648	.	.	.	.	.	0.003838	0.03252	T	-0.508213	0.00514	T	-0.505211	0.21808	T	0.0153492083285648	0.00342	T	0.681532	0.29028	T	0.056685116	0.11184	0.04772613	0.06937	0.056685116	0.11184	0.04772613	0.06937	-3.155	0.11939	T	.	.	0.067	0.03093	B	.;.	.;.	0.684153	0.10526	7.239	0.95715190508235115	0.27631	0.19950	0.20858	N	AEFI	0.136805	0.25759	N	-0.398226230460818	0.25533	1.386683	-0.418497842186151	0.24454	1.339207	1.29450436108755E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.73	0.823	0.17950	-0.012000	0.12637	-1.345000	0.05662	-0.187000	0.09635	0.067000	0.21986	0.000000	0.08366	0.982000	0.59238	0.1381:0.3779:0.0:0.484	5.133	0.14253	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5021.11	35	chr2	21138038	.	C	T	5021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=1374;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-2.570e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:109,74:183:99:1899,0,2728	19	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	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	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,6:45:14:0|1:23864888_T_C:14,0,1448:23864888	7	0	13	1
chr2	26444260	26444260	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon9:c.C1067T:p.A356V,	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	426	1075	19	2	0	23	0.0105844	.	.	392852	Primary_ciliary_dyskinesia_21|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.193	B	0.098	B	0.775	N	0.999	N	1.62	L	2.31	T	-0.993	T	0.004	T	0.09	3.028	16.10	2.55	0.309	0.345	5.577	0.061	.	0.0038	0.033147	0.0154	0.0111	0.0020	0.0636	0	0.0002	0.0077	0.0703	0.013952	2157	154602	rs78892546	0.0060	0.0060	0.0044	0.0077	0.0658	0.0059	0.0059	0.0644	0.0638	0.0120	0.0021	0.0005	0.0481	0	0.0016	8.723e-05	0.0101	0.0658	0.0083	0.0084	0.0070	0.0097	0.0778	0.0080	0.0078	0.0713	0.0688	0.0119	0	0.0020	0.0014	0.0672	0	0.0034	8.819e-05	0.0052	0.0778	0.185	0.21550	T	0.216	0.26226	T	0.193	0.29470	B	0.098	0.30479	B	0.775021	0.09517	N	0.904574	0.999077	0.21650	N	2.155	0.60227	M	2.31	0.16794	T	-2.15	0.48687	N	0.079	0.05414	-0.9925	0.31959	T	0.004	0.01159	T	10	0.0024882853	0.00037	T	.	.	.	0.061	0.17616	.	.	.	.	0.07048991804664596	0.06985	0.124715359228	0.14047	0.304213285446	0.11032	T	0.031243	0.21951	T	-0.676705	0.00050	T	-0.684803	0.06695	T	0.00660154953533092	0.00074	T	0.748825	0.36981	T	0.08217603	0.18918	0.11135863	0.26861	0.08217603	0.18917	0.11135863	0.26861	-4.021	0.24117	T	.	.	0.097	0.15921	B	.	.	1.677739	0.21385	15.18	0.99379588786453565	0.61803	0.11043	0.16369	N	AEFDBI	0.061735	0.11823	N	-0.516585596328434	0.21544	1.144097	-0.501788484637214	0.22104	1.198981	0.0222471026244364	0.13415	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	2.55	0.29757	0.530000	0.22742	0.179000	0.15609	0.599000	0.40250	0.173000	0.23973	0.001000	0.17328	0.998000	0.85391	0.152:0.638:0.1313:0.0787	5.577	0.16511	418	0.81602	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1246.98	33	chr2	26444260	.	C	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.310e+00;DP=822;ExcessHet=0.0000;FS=2.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-1.990e-01;SOR=0.493	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1261,0,1602	20	0	1	0
chr2	62948717	62948717	G	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon13:c.G1871A:p.S624N	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.018	B	0.027	B	0.000	N	0.573	D	1.5	L	-0.86	T	-0.551	T	0.268	T	0.127	1.595	11.29	4.22	1.562	2.594	9.318	0.150	0.0163734082483	0.0004	.	0.0005	9.696e-05	0.0018	0	0	0.0005	0.0011	0	0.0003881	60	154602	rs140493234	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0011	0.0019	0	0	0.0029	0.0002	0.0005	0.0002	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.216e-05	0	0.0009	0.0009	0	0	0.0034	0.0005	0.0005	0.0002	0.133	0.28646	T	0.515	0.13403	T	0.004	0.17786	B	0.006	0.21085	B	0.000000	0.84330	N	0.042311	0.572864	0.32309	D	1.52	0.38360	L	-0.88	0.74689	T	-0.92	0.27463	N	0.258	0.29197	-0.5515	0.66730	T	0.268	0.63992	T	10	0.014242977	0.00300	T	0.016373	0.37594	T	0.150	0.39571	.	.	0.420780279148	0.41693	0.2455782241165902	0.24471	0.0945963051	0.10686	0.549833476543	0.45834	T	0.010892	0.09789	T	-0.405789	0.02121	T	-0.406105	0.32674	T	0.0125584370921436	0.00209	T	0.789521	0.43637	T	0.18528767	0.39884	0.15227534	0.35833	0.16819286	0.37261	0.14758891	0.34920	-4.224	0.28664	T	.	.	0.127	0.28807	B	.;.;.;.	.;.;.;.	3.107036	0.41893	21.4	0.97510087117562183	0.34347	0.89153	0.49448	D	AEFBI	0.178244	0.30550	N	-0.088129188631157	0.37913	2.21264	0.0819518579984197	0.43640	2.661697	0.516162326566969	0.21058	0.615465	0.37627	0	0.633656	0.55848	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	6.03	4.22	0.49153	2.675000	0.46541	3.557000	0.39072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.268:0.0:0.732:0.0	9.318	0.37108	377	0.83897	.;.;.;.	.	.	.	.	.	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	0.02381	1449.98	34	chr2	62948717	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=805;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.156;SOR=0.771	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1464,0,1584	20	0	1	0
chr2	71535087	71535087	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon14:c.A1354G:p.M452V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	0.0161	0.168	266446	Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_specified|not_provided|Miyoshi_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.42	B	0.205	B	0.000	N	0.656	D	0.995	L	-0.22	T	-0.735	T	0.135	T	0.243	2.282	13.59	3.64	0.919	4.521	9.494	0.097	0.0353071200105	0.0012	0.00139776	0.0013	0.0004	0.0011	0	0	0.0016	0.0022	0.0021	0.0012678	196	154602	rs141818764	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0012	0.0020	0	0	0.0012	0.0018	0.0016	0.0016	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0009	0.0013	0.0012	0.0003	0	0.0013	0.0023	0	0	0.0034	0.0015	0.0009	0.0023	0.037	0.43393	D	0.018	0.59732	D	0.001	0.35330	B	0.006	0.37080	B	0.000093	0.51296	N	0.204193	0.534562	0.33008	D	2.125	0.59049	M	-0.22	0.66474	T	-1.99	0.47175	N	0.302	0.44474	-0.7346	0.58730	T	0.135	0.44991	T	10	0.01796338	0.00387	T	0.035307	0.56258	D	0.097	0.27909	.	.	0.590700200879	0.58746	0.50391622055171	0.50313	0.152725938462	0.17232	0.393586605787	0.24173	T	0.376003	0.73949	T	-0.372563	0.03466	T	-0.321167	0.42448	T	0.028368233790925	0.01742	T	0.817418	0.51794	T	0.51351404	0.67884	0.5371858	0.73255	0.585124	0.71888	0.5802731	0.75674	-7.506	0.62033	D	0.187273842424892	0.24411	0.082	0.25882	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.221859	0.43898	21.8	0.97456062147104838	0.34058	0.92784	0.56537	D	AEFBI	0.753686	0.69379	D	-0.187677957809644	0.33646	1.911275	-0.0341875693923052	0.38181	2.245904	0.999990054801985	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.84	3.64	0.40864	4.888000	0.62855	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9117:0.0:0.0883:0.0	9.494	0.38143	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	34	chr2	71535087	.	A	G	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=911;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.732;SOR=0.743	GT:AD:DP:GQ:PL	0/1:129,90:219:99:2195,0,3498	20	0	1	0
chr2	71611531	71611531	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon37:c.G4030A:p.V1344M	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	274011	Qualitative_or_quantitative_defects_of_dysferlin|not_provided	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.944	D	0.001	D	0.596	N	1.7	L	-1.64	D	0.116	D	0.584	D	0.5	3.054	16.19	4.65	2.623	0.451	8.921	0.337	0.0453792384051	.	.	3.306e-05	0.0003	0	0	0	0	0	6.064e-05	2.59e-05	4	154602	rs760627822	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	7.712e-05	5.305e-05	0.0002	0	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	9.857e-05	9.85e-05	0.0001	9.417e-05	0.0003	6.007e-05	4.88e-05	0.0002	0.0002	0.0003	0	6.543e-05	0	0	0	0	0	0	0	0.03	0.47745	D	0.121	0.35970	T	0.773	0.73220	P	0.684	0.68059	P	0.000687	0.42383	D	0.213647	0.596244	0.30978	N	1.735	0.44892	L	-1.64	0.82533	D	-1.16	0.31170	N	0.343	0.38438	0.116	0.84467	D	0.584	0.85065	D	10	0.10851392	0.20203	T	0.045379	0.61950	D	0.337	0.65913	0.355	0.35571	0.708104668759	0.70556	0.26632240090384257	0.26545	0.317531606401	0.33995	0.375653922558	0.21639	T	0.328518	0.69892	T	-0.172646	0.24836	T	-0.169614	0.57478	T	0.0708741498580236	0.08773	T	0.949805	0.86758	D	0.04992539	0.08942	0.06979601	0.14751	0.04992539	0.08941	0.06979601	0.14750	-7.092	0.54760	T	0.15796580943923333	0.19110	0.121	0.27403	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.786829	0.36622	20.3	0.99870659767479808	0.94815	0.28211	0.23491	N	AEFDBI	0.222288	0.34681	N	0.0899631071307268	0.45997	2.84692	0.0508283679642014	0.42112	2.541525	0.999675964918767	0.41644	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.54	4.65	0.57626	0.475000	0.21874	.	.	0.676000	0.76740	0.058000	0.21700	0.917000	0.28245	0.742000	0.35507	0.1689:0.0:0.8311:0.0	8.921	0.34772	428	0.80967	.;.;.;.;C2 domain|C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	35	chr2	71611531	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=998;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=1.08;SOR=0.623	GT:AD:DP:GQ:PL	0/1:103,101:204:99:2498,0,2584	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/2:7,0,5:12:99:185,207,494,0,287,272	13	0	6	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0:31:93:1285,93,0,1285,93,1285,1285,93,1285,1285,1285,93,1285,1285,1285,1285,93,1285,1285,1285,1285	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0:31:93:1285,93,0,1285,93,1285,1285,93,1285,1285,1285,93,1285,1285,1285,1285,93,1285,1285,1285,1285	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0:31:93:1285,93,0,1285,93,1285,1285,93,1285,1285,1285,93,1285,1285,1285,1285,93,1285,1285,1285,1285	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0:31:93:1285,93,0,1285,93,1285,1285,93,1285,1285,1285,93,1285,1285,1285,1285,93,1285,1285,1285,1285	0	4	5	0
chr2	74516077	74516077	C	T	exonic	TLX2	.	nonsynonymous SNV	TLX2:NM_016170:exon3:c.C743T:p.P248L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.613	P	0.186	B	0.000	D	0.975	D	1.65	L	-2.58	D	0.093	D	0.534	D	0.212	2.931	15.77	4.09	2.338	0.177	9.937	0.319	0.405800921003	.	.	2.552e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs751838252	2.002e-05	2.052e-05	1.786e-05	2.221e-05	0.0003	1.405e-05	1.215e-05	0.0002	0.0002	0	0	0	0	0	0	9.019e-07	0	0.0003	6.572e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.04	0.50809	D	0.613	0.39753	P	0.186	0.36104	B	0.000123	0.49741	D	0.000000	0.975479	0.39192	D	2.085	0.57729	M	-2.58	0.89757	D	-3.78	0.71519	D	0.176	0.18920	0.093	0.84048	D	0.534	0.82738	D	10	0.3071435	0.48219	T	0.405801	0.93494	D	0.319	0.64112	0.278	0.23164	0.914622070529	0.91376	0.6024143019574176	0.60172	1.34596667386	0.83986	0.793580055237	0.80987	T	0.676471	0.90453	D	-0.186842	0.22723	T	-0.241734	0.50629	T	0.57402628660202	0.35389	D	0.969903	0.89155	D	0.32771075	0.55283	0.32984513	0.58859	0.32771075	0.55283	0.32984513	0.58859	-5.367	0.40601	T	.	.	0.097	0.15654	B	.	.	4.283369	0.65264	24.8	0.99597291220257833	0.73983	0.57037	0.30272	D	AEFDBCI	0.284761	0.39755	N	-0.0645477324138583	0.38954	2.289629	-0.0357458276588416	0.38114	2.24089	0.999992602384124	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.03	4.09	0.47038	0.042000	0.13834	5.822000	0.50091	0.525000	0.24333	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.3272:0.6728:0.0:0.0	9.937	0.40726	348	0.85549	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	3374.98	35	chr2	74516077	.	C	T	3374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=962;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.769;SOR=0.702	GT:AD:DP:GQ:PL	0/1:131,135:266:99:3389,0,3027	20	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.037	N	1.000	N	-2.015	N	2.64	T	-0.935	T	0.007	T	0.056	-0.932	0.374	2.66	0.771	1.092	7.457	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	148.11	42	chr2	79158731	.	G	T	148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.81;DP=1262;ExcessHet=0.1072;FS=31.424;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.16;MQRankSum=-1.265e+01;QD=0.33;ReadPosRankSum=-5.185e+00;SOR=4.955	GT:AD:DP:GQ:PL	0/1:212,20:232:99:99,0,8606	19	0	2	0
chr2	86089889	86089889	C	G	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon4:c.G473C:p.R158P,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	427	1085	10	0	0	10	0.00458716	.	.	708404	Acrofacial_dysostosis_Cincinnati_type|not_provided	MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.802	P	0.579	P	0.048	N	0.932	N	0.695	N	1.95	T	-1.100	T	0.022	T	0.271	0.011	4.071	4.04	0.911	1.894	7.185	0.057	.	0.0068	0.00479233	0.0069	0.0020	0.0048	0	0.0153	0.0097	0.0078	0.0002	0.006921	1070	154602	rs146078741	0.0085	0.0086	0.0088	0.0082	0.0093	0.0084	0.0083	0.0091	0.0091	0.0010	0.0050	0.0231	0	0.0133	0.0047	0.0093	0.0078	0.0005	0.0064	0.0064	0.0062	0.0067	0.0086	0.0061	0.0060	0.0074	0.0071	0.0014	0.0011	0.0086	0.0228	0	0.0145	0.0068	0.0079	0.0080	0	0.101	0.30375	T	0.197	0.28300	T	0.293	0.45105	B	0.204	0.50152	B	0.048199	0.23275	N	0.483471	0.93191	0.27034	N	1.385	0.34509	L	1.95	0.22474	T	-1.28	0.38151	N	0.156	0.20660	-1.0996	0.04140	T	0.022	0.09421	T	10	0.0037902892	0.00071	T	.	.	.	0.057	0.16321	.	.	0.213499824651	0.20940	0.6783633610280771	0.67775	0.767873632347	0.64612	0.299656271935	0.10349	T	0.079265	0.36088	T	-0.51295	0.00483	T	-0.499206	0.22430	T	0.0313899697336098	0.02208	T	0.728327	0.34315	T	0.36069137	0.57888	0.36009464	0.61457	0.34345084	0.56553	0.36009464	0.61457	-6.672	0.51599	T	0.19178476808509126	0.25176	0.627	0.69987	P	.;.	.;.	3.109079	0.41930	21.4	0.53268357583805126	0.04906	0.69650	0.34272	D	AEFDBI	0.259675	0.37797	N	-0.3325533640644	0.27918	1.535633	-0.268997360889988	0.29125	1.629313	0.934496498806157	0.27173	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	4.04	0.46262	2.179000	0.42157	6.182000	0.54646	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.223000	0.22544	0.0:0.1768:0.0:0.8232	7.185	0.24973	574	0.70151	RNA polymerase Rpb1, domain 1;RNA polymerase Rpb1, domain 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	0.04762	1516.08	40	chr2	86089889	.	C	G	1516.08	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.32;SOR=0.773	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1544,150,0	20	1	0	0
chr2	86477880	86477880	A	G	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon13:c.A1943G:p.Q648R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.945	P	0.748	P	0.000	D	1.000	D	1.845	L	0.26	T	-0.583	T	0.270	T	0.329	4.483	24.0	4.84	2.163	7.359	13.692	0.175	0.0306541584191	.	.	1.719e-05	0	0	0	0	3.057e-05	0	0	1.29e-05	2	154602	rs746666125	9.657e-06	9.577e-06	1.096e-05	8.339e-06	1.267e-05	5.6e-06	4.38e-06	7.35e-06	5.75e-06	0	0	0	0	0	0	1.267e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.102	0.38450	T	0.945	0.53279	P	0.459	0.46380	P	0.000001	0.62929	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.26	0.59314	T	-0.16	0.09460	N	0.341	0.43803	-0.5834	0.65482	T	0.270	0.64141	T	10	0.23205072	0.40192	T	0.030654	0.52920	D	0.175	0.44197	0.234	0.16305	0.303174742685	0.29934	0.5914553402735858	0.59075	0.557958373062	0.52393	0.530072748661	0.43045	T	0.076842	0.35514	T	-0.0378323	0.46271	T	-0.276634	0.47148	T	0.712538715707096	0.41325	D	0.865913	0.56597	D	0.18451363	0.39769	0.196261	0.43348	0.18451363	0.39769	0.196261	0.43347	-5.434	0.41245	T	.	.	0.257	0.49186	B	.;.;.;.	.;.;.;.	4.074550	0.60568	24.2	0.99816111719336098	0.89973	0.96870	0.71387	D	AEFBCI	0.867057	0.78670	D	0.56260559397665	0.70852	5.562956	0.577457118838307	0.73326	5.952366	0.999999999980968	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.347000	0.78598	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.692	0.62033	481	0.77356	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4603.08	33	chr2	86477880	.	A	G	4603.08	.	AC=2;AF=0.048;AN=42;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=1.041	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4631,453,0	20	1	0	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V,	.	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.006	N	1.000	N	-1.265	N	4.4	T	-0.937	T	0.002	T	0.121	-1.615	0.013	-1.91	-0.992	1.618	4.088	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	345.68	49	chr2	94871904	.	A	G	345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.573e+00;DP=1031;ExcessHet=0.3300;FS=1.528;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.92;MQRankSum=-7.507e+00;QD=1.08;ReadPosRankSum=-1.448e+00;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,11:110:99:0|1:94871888_G_A:153,0,4057:94871888	18	0	3	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,8:80:99:0|1:94874084_C_CG:119,0,2999:94874084	15	0	6	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,53:308:99:0|1:94876587_C_A:1458,0,10518:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:308,125:433:99:0|1:94876587_C_A:4322,0,12557:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	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	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,152:479:99:0|1:94876587_C_A:5256,0,13271:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,180:539:99:0|1:94876671_A_G:6467,0,14410:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	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	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,180:543:99:0|1:94876671_A_G:6455,0,14522:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	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	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:377,127:504:99:.:.:2607,0,9529	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	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	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	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	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:472,38:510:99:0|1:94876737_C_A:134,0,19621:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:468,38:506:99:0|1:94876737_C_A:146,0,19476:94876737	9	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	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	.	.	.	.	.	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	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,74:214:99:.:.:1903,0,3982	0	0	21	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	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,34:256:99:.:.:293,0,6586	6	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	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	.	.	.	.	.	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	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:187,179:366:99:4079,0,4832	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	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	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	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,119:305:99:.:.:3619,0,4971	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:232,59:291:99:979,0,9075	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	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	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	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:185,100:285:99:.:.:3017,0,5017	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,28:115:99:0|1:95859969_A_AT:873,0,3562:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	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	.	.	.	.	.	.	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	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,28:115:99:0|1:95859969_A_AT:873,0,3562:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	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	.	.	.	.	.	.	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	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,24:112:99:0|1:95859969_A_AT:743,0,3605:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	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	.	.	.	.	.	.	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	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:91,24:115:99:715,0,2282	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	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	.	.	.	.	.	.	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	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,23:106:99:0|1:95860002_T_A:696,0,3341:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	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	.	.	.	.	.	.	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	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,22:103:99:0|1:95860002_T_A:680,0,3301:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,19:95:99:0|1:95860020_G_A:569,0,3109:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,18:93:99:0|1:95860020_G_A:530,0,3091:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	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	.	.	.	.	.	.	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	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:54,10:64:99:258,0,1508	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,34:131:99:0|1:95927222_G_GAT:1136,0,3970:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,43:149:99:0|1:95927222_G_GAT:1486,0,4321:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	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	.;.	.	.	.	.	.	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	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,62:168:99:0|1:95927222_G_GAT:2284,0,4264:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	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	.;.	.	.	.	.	.	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	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,110:231:99:0|1:95927222_G_GAT:4244,0,4750:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	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	.;.	.	.	.	.	.	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	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,155:286:99:0|1:95927222_G_GAT:6057,0,5005:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,160:303:99:0|1:95927222_G_GAT:6135,0,5322:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	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	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,52:159:99:0|1:95929092_T_C:1819,0,4246:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	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	.;.	.	.	.	.	.	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	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,70:189:99:0|1:95929092_T_C:2581,0,4786:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	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	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,91:216:99:0|1:95929092_T_C:3445,0,4975:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,99:225:99:0|1:95929092_T_C:3778,0,4993:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,101:227:99:0|1:95929092_T_C:3843,0,4987:95929092	1	0	20	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,13:125:99:0|1:97185336_GC_G:209,0,4664:97185336	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	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	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,13:128:99:0|1:97185336_GC_G:200,0,4790:97185336	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,13:130:99:0|1:97185336_GC_G:194,0,4874:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,14:138:99:0|1:97185336_GC_G:215,0,5137:97185336	3	0	18	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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,90:198:99:0|1:97513219_T_C:3454,0,4264:97513219	0	0	20	1
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	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	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,98:206:99:0|1:97513219_T_C:3734,0,4240:97513219	0	0	20	1
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	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	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,118:241:99:0|1:97513244_G_T:4585,0,4772:97513244	0	0	20	1
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	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	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,122:252:99:0|1:97513244_G_T:4691,0,5074:97513244	0	0	20	1
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	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	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,122:251:99:0|1:97513244_G_T:4694,0,5045:97513244	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,124:255:99:0|1:97513268_C_T:4812,0,5093:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,126:258:99:0|1:97513268_C_T:4853,0,5127:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,126:258:99:0|1:97513268_C_T:4853,0,5127:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,130:260:99:0|1:97513268_C_T:4948,0,5005:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:93,54:147:99:1195,0,2293	0	0	20	1
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	P	0.56	P	.	.	1.000	D	3.395	M	-0.73	T	0.213	D	0.544	D	0.374	6.021	37	5.53	2.746	9.700	19.811	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	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	0.05882	264.87	54	chr2	99390613	.	G	A	264.87	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.288e+00;DP=1805;ExcessHet=0.1072;FS=80.190;InbreedingCoeff=-0.1183;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.616;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,17:132:99:0|1:99390613_G_A:121,0,4339:99390613	15	0	2	4
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,14,0:14:42:366,42,0,366,42,366	3	9	6	2
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,181,0:181:99:.:.:5986,543,0,5986,543,5986	3	5	3	0
chr2	127588439	127588439	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon15:c.C1738A:p.L580M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.1	B	0.098	B	0.106	N	0.981	N	2.475	M	-2.55	D	-0.188	T	0.605	D	0.258	0.411	6.230	2.33	-0.037	1.140	3.062	0.383	0.0147652066762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.118	0.36233	T	0.1	0.25713	B	0.098	0.30479	B	0.105752	0.19644	N	0.457310	0.993095	0.23773	N	1.2	0.30300	L	-2.55	0.89561	D	-1.34	0.33401	N	0.411	0.45142	-0.1876	0.77989	T	0.605	0.85979	D	10	0.34224337	0.51259	T	0.014765	0.35101	T	0.383	0.70029	0.695	0.83219	0.37568098594	0.37176	0.4645993387755176	0.46378	0.405557829885	0.41453	0.31606400013	0.12824	T	0.272933	0.64535	T	-0.0160102	0.49420	T	-0.260774	0.48748	T	0.101186871528625	0.12487	T	0.777122	0.41012	T	0.18641825	0.40049	0.10698253	0.25747	0.18641825	0.40048	0.10698253	0.25747	-6.749	0.52178	T	.	.	0.104	0.18705	B	.;.	.;.	0.945591	0.13213	9.715	0.94361243992223354	0.24719	0.40948	0.26549	N	AEFDI	0.264117	0.38153	N	-1.08332506019608	0.06950	0.3214348	-1.10362679920391	0.07631	0.3719274	0.814722112231575	0.24418	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	2.33	0.27981	1.183000	0.31651	0.796000	0.21614	-0.898000	0.02344	0.576000	0.27554	0.237000	0.23824	0.044000	0.14658	0.1066:0.4521:0.2304:0.2109	3.062	0.05829	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	53.98	41	chr2	127588439	.	C	A	53.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e+00;DP=853;ExcessHet=0.0000;FS=55.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=1.19;SOR=6.184	GT:AD:DP:GQ:PL	0/1:91,21:112:68:68,0,2220	20	0	1	0
chr2	127631674	127631674	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon37:c.A5092G:p.T1698A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.012	B	0.178	N	1.000	N	0.69	N	-2.85	D	-0.782	T	0.403	T	0.036	0.906	8.686	-0.21	0.812	-0.099	1.745	0.113	0.0373345099302	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307646995	6.846e-07	6.84e-07	0	1.376e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.527	0.10209	T	0.008	0.14655	B	0.012	0.16012	B	0.177692	0.17190	N	0.527792	0.999978	0.18612	N	0.49	0.13296	N	-2.85	0.91363	D	-0.2	0.12472	N	0.149	0.15187	-0.7818	0.56201	T	0.403	0.75359	T	10	0.06397897	0.08416	T	0.037335	0.57553	D	0.113	0.31778	0.389	0.41115	0.294206760003	0.29026	0.08476603274096495	0.08410	0.0835327217354	0.09421	0.2628890872	0.05238	T	0.043738	0.53060	T	-0.289884	0.09647	T	-0.485046	0.23912	T	0.0268208980560303	0.01519	T	0.675032	0.28342	T	0.17988154	0.39081	0.04838832	0.07176	0.17988154	0.39081	0.04838832	0.07175	-3.792	0.20685	T	.	.	0.064	0.02145	B	.;.;.	.;.;.	0.013060	0.04373	1.126	0.79396083502705805	0.12722	0.09569	0.15295	N	AEFDBCI	0.118204	0.23123	N	-1.03667476488495	0.07851	0.3661421	-0.953247924149598	0.10848	0.5490186	0.999943722188742	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.23	-0.21	0.12529	-0.093000	0.11077	0.348000	0.17448	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.255000	0.23391	0.2206:0.0849:0.2089:0.4856	1.745	0.02782	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1323.98	40	chr2	127631674	.	A	G	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=857;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.624;SOR=0.929	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1338,0,952	20	0	1	0
chr2	127701755	127701755	G	T	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.G227T:p.R76L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.93	P	0.415	B	0.000	U	1.000	D	2.465	M	-0.28	T	-0.527	T	0.281	T	0.564	5.095	31	2.12	0.436	2.240	9.570	0.409	0.843224274377	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs752590388	0.0002	0.0002	0.0002	0.0002	0.0090	0.0002	0.0002	0.0081	0.0077	0	0	0	0.0090	0	0.0003	0	9.69e-05	0.0001	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0037	0.0032	0	0	0	0	0.0052	0	0	0	0	0	0.002	0.72154	D	0.0	0.92824	D	0.93	0.51791	P	0.415	0.44933	B	0.000006	0.62929	U	0.000000	1	0.81001	D	2.215	0.62545	M	-0.28	0.67543	T	-6.52	0.91695	D	0.491	0.52475	-0.5271	0.67651	T	0.281	0.65289	T	10	0.28014866	0.45590	T	0.843224	0.98789	D	0.409	0.72099	0.843	0.94784	0.846154656725	0.84467	0.8426694428704917	0.84227	.	.	0.844156622887	0.88727	D	0.448892	0.79060	T	-0.183478	0.23220	T	-0.03685	0.67913	D	0.288045084223588	0.24508	T	0.556144	0.19298	T	0.7956297	0.83628	0.7569585	0.85638	0.7956297	0.83630	0.7569585	0.85639	-7.466	0.57371	T	.	.	0.174	0.38208	B	.	.	3.915446	0.57123	23.8	0.99657821615264608	0.77757	0.69407	0.34175	D	ALL	0.272253	0.38793	N	0.208173978622232	0.51594	3.339449	0.147567423561131	0.47012	2.938055	0.999999999999756	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.93	2.12	0.26372	1.895000	0.39411	2.011000	0.30165	0.484000	0.22197	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1768:0.0:0.8232:0.0	9.570	0.38589	934	0.15400	.	.	.	.	.	.	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	0.02381	943.98	29	chr2	127701755	.	G	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=738;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.843;SOR=0.323	GT:AD:DP:GQ:PL	0/1:23,35:58:99:958,0,509	20	0	1	0
chr2	130729356	130729356	C	G	exonic	GPR148	.	nonsynonymous SNV	GPR148:NM_207364:exon1:c.C205G:p.L69V,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.788	P	0.446	B	0.018	U	0.990	N	0.55	N	-1.07	T	-0.671	T	0.282	T	0.224	1.113	9.538	2.49	1.318	3.049	11.079	0.279	0.0170979976516	.	0.000599042	0.0004	0	0.0003	0	0	7.517e-05	0.0011	0.0026	0.0003493	54	154602	rs201807263	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	4.473e-05	0.0012	0	0	0.0002	5.399e-05	0.0003	0.0027	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	0	0	0	0.0009	0.0002	0	0	7.353e-05	0	0.0039	0.025	0.47320	D	0.0	0.92824	D	0.788	0.44546	P	0.446	0.45959	B	0.018343	0.27503	U	0.146534	0.989706	0.24263	N	1.565	0.39561	L	-1.07	0.76948	T	-1.86	0.43524	N	0.163	0.17140	-0.6706	0.61801	T	0.282	0.65419	T	10	0.016502827	0.00348	T	0.017098	0.38659	T	0.279	0.59619	0.711	0.84691	0.72494033862	0.72250	0.3899548924257741	0.38910	0.39260264956	0.40439	0.28005284071	0.07499	T	0.046107	0.27325	T	-0.40596	0.02115	T	-0.360525	0.37991	T	0.0787005518080168	0.09820	T	0.417558	0.11011	T	0.14209041	0.32713	0.16439287	0.38084	0.14209041	0.32712	0.16439287	0.38084	-5.066	0.37548	T	.	.	0.104	0.18746	B	.	.	2.430852	0.31268	18.69	0.9924347410926192	0.56630	0.41512	0.26673	N	AEFDBCI	0.161376	0.28743	N	-0.0847361679059758	0.38062	2.223544	-0.116639516698874	0.34719	2.000313	0.507225612695438	0.20991	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.49	2.49	0.29274	2.017000	0.40600	.	.	0.524000	0.24156	0.984000	0.35821	0.991000	0.31484	0.616000	0.31793	0.0:1.0:0.0:0.0	11.079	0.47268	952	0.10565	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2439.98	37	chr2	130729356	.	C	G	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.350e-01;DP=1145;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-7.590e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/1:101,97:198:99:2454,0,2626	20	0	1	0
chr2	130729417	130729417	C	T	exonic	GPR148	.	nonsynonymous SNV	GPR148:NM_207364:exon1:c.C266T:p.P89L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.073	N	0.967	N	-0.55	N	1.86	T	-0.965	T	0.018	T	0.076	-0.766	0.771	1.91	-0.014	3.134	4.725	0.046	0.00184161130549	7.7e-05	0.000599042	0.0004	0	8.64e-05	0	0	8.998e-05	0.0011	0.0025	0.0003428	53	154602	rs199627473	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0.0012	2.519e-05	0	0.0002	7.464e-05	0.0003	0.0027	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0001	0.0026	0.0021	0	0	0.0001	0.0009	0.0004	0	0	0.0001	0	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.073297	0.21356	N	0.299003	0.967346	0.25853	N	-2.34	0.00087	N	1.86	0.24285	T	2.9	0.00155	N	0.038	0.01203	-0.9653	0.38151	T	0.018	0.07282	T	10	0.0071891546	0.00163	T	0.001842	0.03193	T	0.046	0.12618	.	.	0.300449992093	0.29664	0.5026267421976692	0.50184	0.149566448302	0.16864	0.261172235012	0.05032	T	0.009403	0.08559	T	-0.649303	0.00073	T	-0.710071	0.05291	T	0.0342991085142591	0.02689	T	0.260974	0.04194	T	0.024364464	0.01261	0.0307706	0.01576	0.024364464	0.01261	0.0307706	0.01576	2.558	0.00031	T	.	.	0.044	0.00035	B	.	.	1.163565	0.15528	11.92	0.18464644169045846	0.00582	0.02022	0.06071	N	AEFDBCI	0.019671	0.00705	N	-1.0245513118804	0.08097	0.3784351	-0.851019229517145	0.13263	0.6870718	5.07921076695098E-4	0.07176	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.15	1.91	0.24841	3.640000	0.54086	.	.	-0.189000	0.09497	1.000000	0.71638	0.998000	0.33993	0.900000	0.43643	0.0:0.1146:0.1913:0.6942	4.725	0.12316	952	0.10565	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2444.98	37	chr2	130729417	.	C	T	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.02;DP=1136;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.410;SOR=0.495	GT:AD:DP:GQ:PL	0/1:105,86:191:99:2459,0,2599	20	0	1	0
chr2	131264168	131264168	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G2713A:p.E905K,	.	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.676	P	.	.	1.000	D	3.86	H	3.04	T	-1.091	T	0.047	T	0.237	3.354	17.30	.	0.119	6.504	5.905	0.200	.	0.0040	0.000998403	0.0062	0.0005	0.0011	0	0.0367	0.0069	0.0124	0.0012	0.0006147	16	26028	rs200315167	0.0060	0.0061	0.0061	0.0059	0.0057	0.0059	0.0058	0.0056	0.0056	0.0008	0.0015	0.0017	5.038e-05	0.0328	0.0003	0.0057	0.0056	0.0014	0.0055	0.0056	0.0044	0.0066	0.0056	0.0052	0.0050	0.0051	0.0049	0.0007	0.0022	0.0016	0.0023	0	0.0353	0.0034	0.0056	0.0047	0.0008	0.006	0.61437	D	0.021	0.58089	D	0.991	0.64070	D	0.676	0.53321	P	.	.	.	.	1	0.81001	D	3.885	0.96017	H	3.04	0.08810	T	-3.07	0.63207	D	0.343	0.38438	-1.0912	0.05335	T	0.047	0.19998	T	8	0.010337621	0.00230	T	.	.	.	0.200	0.48430	.	.	0.201204373187	0.19734	0.29432506962015326	0.29345	.	.	0.581279158592	0.50266	T	0.59643	0.87001	D	-0.469566	0.00855	T	-0.44508	0.28241	T	0.0732573594395912	0.09100	T	0.89971	0.64861	D	0.22847764	0.45568	0.16179506	0.37616	0.22847764	0.45568	0.16179506	0.37615	-8.896	0.67025	D	.	.	0.441	0.61765	A	.	.	2.453534	0.31600	18.79	0.99668965456486669	0.78458	0.62631	0.31840	D	AEFI	0.357987	0.44882	N	0.0276085829770743	0.43113	2.610674	-0.308637198621827	0.27819	1.546392	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.808000	0.27011	0.031000	0.13245	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	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	0.02381	2345.98	87	chr2	131264168	.	G	A	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.04;DP=3005;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.81;MQRankSum=-9.040e-01;QD=8.92;ReadPosRankSum=-5.930e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:170,93:263:99:2360,0,4156	20	0	1	0
chr2	131264328	131264328	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C2873G:p.P958R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	.	.	1.000	D	4.925	H	-3.76	D	0.850	D	0.952	D	0.325	2.459	14.18	.	0.119	5.240	5.905	0.464	0.139449073447	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381132398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	1	0.81001	D	5.405	0.99985	H	-3.76	0.95561	D	-6.89	0.93257	D	0.359	0.40063	0.850	0.95033	D	0.952	0.98439	D	8	0.7672896	0.76804	D	0.139449	0.82193	D	0.464	0.76023	.	.	0.672261676673	0.66949	0.059611296577873146	0.05901	.	.	0.548641085625	0.45666	T	0.795583	0.94734	D	0.203698	0.74238	D	0.0548216	0.73901	D	0.997276365756989	0.91171	D	0.957504	0.83996	D	0.48653993	0.66296	0.44293997	0.67527	0.48653993	0.66296	0.44293997	0.67528	-10.758	0.78314	D	.	.	0.562	0.67293	A	.	.	2.697478	0.35225	19.84	0.99590228739079578	0.73572	0.56946	0.30248	D	AEFI	0.295540	0.40563	N	0.243978046719096	0.53342	3.503472	-0.14818538334292	0.33478	1.91544	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	5.537000	0.66897	.	.	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	934	0.15400	.	.	.	.	.	.	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	0.02381	552.98	87	chr2	131264328	.	C	G	552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=2445;ExcessHet=0.0000;FS=6.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.22;MQRankSum=-1.467e+00;QD=3.84;ReadPosRankSum=0.030;SOR=1.407	GT:AD:DP:GQ:PL	0/1:116,28:144:99:567,0,3132	20	0	1	0
chr2	131491987	131491987	G	C	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon2:c.C208G:p.L70V,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.905	P	0.545	P	0.000	D	0.993	D	2.045	M	1.43	T	-1.080	T	0.089	T	0.254	2.319	13.71	2.01	0.305	3.160	8.292	0.078	.	.	0.000599042	0.0081	0.0051	0.0153	0	0	0.0151	0	0.0035	0.0014812	229	154602	rs200244792	0.0060	0.0058	0.0061	0.0058	0.0068	0.0059	0.0058	0.0067	0.0067	0.0011	0.0030	0.0016	0	0.0064	0.0042	0.0068	0.0052	0.0017	0.0042	0.0042	0.0043	0.0040	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0033	0.0023	0	0.0077	0.0034	0.0064	0.0033	0.0010	0.118	0.28148	T	0.33	0.18560	T	0.905	0.49920	P	0.545	0.49043	P	0.000011	0.62929	D	0.068268	0.992871	0.41768	D	2.27	0.64531	M	1.43	0.32958	T	-1.09	0.28290	N	0.342	0.38335	-1.0802	0.07310	T	0.089	0.34353	T	10	0.00947997	0.00214	T	.	.	.	0.078	0.22779	.	.	0.452072420954	0.44828	0.270102797742641	0.26923	0.582482610262	0.54005	0.832005620003	0.86869	D	0.012696	0.11113	T	-0.477913	0.00761	T	-0.457485	0.26875	T	0.0439371842285023	0.04408	T	0.748325	0.36895	T	0.16187933	0.36227	0.1458817	0.34581	0.16187933	0.36226	0.1458817	0.34580	-11.303	0.81293	D	.	.	0.094	0.14523	B	.	.	4.073558	0.60544	24.2	0.98123766532953116	0.38457	0.58582	0.30681	D	AEFDBCI	0.364501	0.45302	N	0.0327037417616018	0.43347	2.629451	-0.0475589832482187	0.37597	2.203438	0.999997347311764	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.94	2.01	0.25568	4.513000	0.60194	.	.	0.433000	0.20966	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1328:0.0:0.8672:0.0	8.292	0.31125	911	0.21964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1571.98	35	chr2	131491987	.	G	C	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=849;ExcessHet=0.0000;FS=8.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.49;MQRankSum=-1.611e+00;QD=14.83;ReadPosRankSum=0.481;SOR=0.252	GT:AD:DP:GQ:PL	0/1:42,64:106:99:1586,0,1046	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:1,24,0,0:25:49:602,49,0,605,72,628,605,72,628,628	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:1,24,0,0:25:49:602,49,0,605,72,628,605,72,628,628	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	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	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:120,43:163:26:26,0,2220	3	0	15	3
chr2	159219716	159219716	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon19:c.A2924G:p.K975R	.	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.991	D	0.986	D	0.000	D	1.000	D	1.59	L	2.29	T	-1.144	T	0.070	T	0.272	3.343	17.25	5.61	2.254	6.327	16.102	0.094	0.0135433485013	0.0069	0.00259585	0.0061	0.0013	0.0093	0.0001	0.0056	0.0076	0.0089	0.0037	0.0059314	917	154602	rs144753108	0.0073	0.0073	0.0075	0.0072	0.0082	0.0072	0.0072	0.0080	0.0080	0.0012	0.0051	0.0090	2.519e-05	0.0052	0.0062	0.0082	0.0072	0.0042	0.0050	0.0050	0.0052	0.0049	0.0076	0.0047	0.0046	0.0071	0.0068	0.0017	0.0352	0.0027	0.0081	0.0002	0.0051	0.0102	0.0076	0.0047	0.0021	0.136	0.26085	T	0.042	0.50226	D	0.29	0.32311	B	0.157	0.34536	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.415	0.12483	N	2.29	0.17113	T	-2.08	0.47514	N	0.309	0.34874	-1.1444	0.01202	T	0.070	0.28412	T	10	0.008304864	0.00188	T	0.013543	0.33021	T	0.094	0.27141	.	.	0.360163838653	0.35632	0.23340728746067715	0.23255	0.582302434154	0.53992	0.587670922279	0.51165	T	0.13515	0.46679	T	-0.501948	0.00558	T	-0.485828	0.23828	T	0.0122243473831747	0.00197	T	0.868613	0.57103	D	0.25126094	0.48133	0.31268016	0.57269	0.25126094	0.48133	0.31268016	0.57268	-3.622	0.18176	T	.	.	0.089	0.11941	B	.	.	3.650841	0.51811	23.1	0.99795804333082005	0.88106	0.98162	0.80137	D	AEFBI	0.726979	0.67547	D	0.329385899103533	0.57661	3.934438	0.43560205665662	0.63798	4.620823	0.999999953899644	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.368000	0.73042	8.139000	0.76678	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.102	0.81002	649	0.63102	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|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	0.02381	3521.98	43	chr2	159219716	.	A	G	3521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.073e+00;DP=1147;ExcessHet=0.0000;FS=4.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-1.400e-02;SOR=0.490	GT:AD:DP:GQ:PL	0/1:114,143:257:99:3536,0,2831	20	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	YES	425	1072	24	1	0	26	0.0119816	1.0000	0.938	516567	not_provided|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Immunodeficiency_95|IFIH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.460	23.8	4.74	2.331	7.182	18.077	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2711.11	33	chr2	162268086	.	C	T	2711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=809;ExcessHet=0.1072;FS=2.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-1.350e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/1:30,59:89:99:1613,0,765	19	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I,	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	.	436	1075	9	2	0	13	0.00601017	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	0.398	N	1.000	N	0.755	N	3.57	T	-0.978	T	0.006	T	0.057	1.118	9.558	-5.56	-1.907	-0.203	3.213	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1740.11	34	chr2	162276886	.	G	A	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.750;DP=807;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.219;SOR=0.767	GT:AD:DP:GQ:PL	0/1:34,28:62:99:705,0,865	19	0	2	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C,	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	.	8	1446	61	7	0	75	0.0252781	.	.	136097	Connective_tissue_disorder|Asphyxiating_thoracic_dystrophy_4|not_specified|not_provided|Nephronophthisis_12|Nephronophthisis|Jeune_thoracic_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.203	B	0.027	B	0.000	D	1.000	D	1.72	L	-0.97	T	-0.637	T	0.221	T	0.267	1.045	9.269	4.87	1.446	4.840	9.829	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Likely benign	0	0	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	0.02381	750.98	34	chr2	165917310	.	G	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.277;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,31:68:99:765,0,873	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:40,50,0:90:99:1236,0,897,1356,1047,2403	10	2	8	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41,	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	.	0	1435	82	5	0	92	0.0310601	.	.	205134	Pigmented_nodular_adrenocortical_disease,_primary,_2|not_specified|PDE11A-related_disorder|Bardet-Biedl_syndrome_16|not_provided	MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|MedGen:CN169374|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3666.07	35	chr2	178072266	.	TA	T	3666.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.1072;FS=3.898;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=0.744;SOR=0.482	GT:AD:DP:GQ:PL	0/1:64,65:129:99:2172,0,2193	19	0	2	0
chr2	178454393	178454393	G	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001369912:exon2:c.G273T:p.R91S	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.991	D	0.987	D	0.005	U	1.000	D	1.04	L	2.17	T	-0.913	T	0.053	T	0.933	1.937	12.43	1.36	0.289	0.183	3.296	0.050	0.0138271386833	8.4e-05	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372693130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.0	0.92824	D	0.991	0.64070	D	0.987	0.77487	D	0.004769	0.33407	U	0.000000	0.999845	0.49770	D	1.045	0.26769	L	2.17	0.19020	T	0.08	0.06026	N	0.695	0.70000	-0.9126	0.46531	T	0.053	0.22539	T	10	0.30663106	0.48172	T	0.013827	0.33526	T	0.284	0.60219	0.491	0.57732	0.20549828249	0.20151	0.4981314221047082	0.49734	0.461855285749	0.45726	0.610638022423	0.54406	T	0.026981	0.19857	T	0.135671	0.67911	D	-0.0428951	0.67505	D	0.449941027428168	0.30795	T	0.868613	0.57103	D	0.09232867	0.21659	0.07326512	0.15901	0.09232867	0.21658	0.07326512	0.15901	-2.576	0.06323	T	0.1206592918906045	0.11369	0.338	0.58534	B	.;.;.;.	.;.;.;.	2.563647	0.33207	19.27	0.98600200561967488	0.43493	0.78305	0.38613	D	AEFBI	0.305244	0.41272	N	0.0304841594689505	0.43246	2.62127	0.0130931849935305	0.40320	2.404528	0.0659071927878773	0.15375	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.41	1.36	0.21139	0.189000	0.16845	.	.	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.997000	0.79791	0.458:0.0:0.3615:0.1806	3.296	0.06555	331	0.86429	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	787.98	33	chr2	178454393	.	G	T	787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.699e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-3.450e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:35,36:71:99:802,0,868	20	0	1	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1509	13	0	0	13	0.00428901	.	.	136136	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Cardiovascular_phenotype|Tip-toe_gait	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.979	D	.	.	1.000	D	1.07	L	-0.31	T	-0.325	T	0.312	T	0.342	4.072	20.9	5.74	2.712	7.794	19.503	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2945.98	114	chr2	178533468	.	C	G	2945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=2141;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=0.296;SOR=0.727	GT:AD:DP:GQ:PL	0/1:79,107:186:99:2960,0,1983	20	0	1	0
chr2	178546425	178546425	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67711A:p.D22571N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	513249	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.993	D	0.911	D	.	.	1.000	D	1.135	L	-0.18	T	-0.396	T	0.340	T	0.12	4.889	28.1	5.81	2.738	7.818	20.080	0.363	0.0257388030203	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs776793953	8.074e-05	8.072e-05	4.085e-05	0.0001	0.0013	6.869e-05	6.422e-05	0.0011	0.0010	0	0	0	0	0	0.0002	8.995e-07	8.283e-05	0.0013	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.057	0.37966	T	.	.	.	0.993	0.65571	D	0.911	0.64720	D	.	.	.	.	1	0.81001	D	1.08	0.27187	L	-0.18	0.65747	T	-3.32	0.69593	D	0.289	0.53181	-0.3963	0.72144	T	0.340	0.70624	T	9	0.07559073	0.11701	T	0.025739	0.48694	D	0.363	0.68319	0.476	0.55342	0.371344866733	0.36741	.	.	0.397505575449	0.40843	0.765936374664	0.76815	T	.	.	.	-0.403193	0.02206	T	-0.392469	0.34263	T	0.190041470599687	0.19847	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-4.888	0.35600	T	.	.	0.273	0.50690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.350464	0.46210	22.3	0.98117374264781754	0.38407	0.98696	0.85696	D	AEFBI	0.919675	0.89054	D	0.741570041224039	0.82354	7.742073	0.783419805281473	0.88617	9.650064	0.999999999999978	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.080	0.97771	483	0.77230	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2424.98	35	chr2	178546425	.	C	T	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=1027;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=3.28;SOR=0.761	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2439,0,2632	20	0	1	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	136110	Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.677	P	0.322	B	.	.	1.000	D	0.32	N	-0.22	T	-0.677	T	0.189	T	0.313	1.669	11.54	5.96	2.285	2.089	16.448	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2912.98	44	chr2	178713271	.	T	C	2912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=1111;ExcessHet=0.0000;FS=8.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.589;SOR=1.211	GT:AD:DP:GQ:PL	0/1:146,113:259:99:2927,0,3814	20	0	1	0
chr2	185793362	185793362	C	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.C6226A:p.L2076M,	.	.	434	1070	16	2	0	20	0.00925926	.	.	1687429	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	.	.	1.000	N	1.1	L	0.48	T	-0.951	T	0.079	T	0.227	-1.048	0.198	-5.16	-0.959	-0.870	5.545	0.059	.	.	0.00199681	0.0028	0	0.0112	0	0	0.0042	0	0.0028	0.0009056	140	154602	rs74508015	0.0034	0.0032	0.0034	0.0034	0.0074	0.0033	0.0033	0.0056	0.0050	0.0009	0.0043	0.0016	0	0.0004	0.0074	0.0037	0.0037	0.0028	0.0025	0.0025	0.0025	0.0025	0.0051	0.0023	0.0022	0.0042	0.0039	0.0008	0	0.0051	0.0029	0	9.432e-05	0.0034	0.0034	0.0033	0.0037	0.121	0.27783	T	0.239	0.24477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.48	0.55945	T	-1.65	0.39503	N	0.148	0.15046	-0.9514	0.40730	T	0.079	0.31314	T	7	0.0031307042	0.00052	T	.	.	.	0.059	0.16972	.	.	0.0551355673512	0.04727	0.18340032344854906	0.18259	.	.	0.413440704346	0.26933	T	0.021052	0.16461	T	-0.526687	0.00402	T	-0.527821	0.19504	T	0.0039843693877239	0.00042	T	0.353365	0.07952	T	0.097489156	0.22980	0.08456565	0.19463	0.097489156	0.22980	0.08456565	0.19463	-4.612	0.32322	T	.	.	0.146	0.32226	B	.	.	0.534934	0.09034	5.818	0.48869473577148037	0.04114	0.01949	0.05925	N	AEFGI	.	.	.	-1.08090158306797	0.06995	0.3236674	-1.25550028775307	0.05050	0.2397123	0.935778222168531	0.27227	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-5.16	0.02640	-0.868000	0.04345	-1.055000	0.06470	-0.173000	0.11020	0.020000	0.19661	0.000000	0.08366	0.245000	0.23132	0.2489:0.2406:0.0:0.5105	5.545	0.16348	776	0.48302	.	.	.	.	.	.	Likely benign	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	0.02381	2482.98	146	chr2	185793362	.	C	A	2482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.061e+00;DP=2395;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-1.733e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:78,87:165:99:2497,0,2153	20	0	1	0
chr2	185796672	185796672	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.A9536G:p.N3179S,	.	.	430	1073	17	2	0	21	0.00969082	.	.	1687430	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.829	N	1.000	N	1.32	L	1.03	T	-0.987	T	0.063	T	0.046	-0.546	1.524	-1.49	-0.128	-0.333	4.235	0.014	.	.	0.00199681	0.0029	0.0020	0.0119	0	0	0.0042	0	0.0029	0.0008926	138	154602	rs115715789	0.0034	0.0032	0.0034	0.0034	0.0074	0.0033	0.0033	0.0056	0.0050	0.0009	0.0043	0.0016	0	0.0004	0.0074	0.0037	0.0038	0.0028	0.0025	0.0025	0.0025	0.0025	0.0051	0.0023	0.0022	0.0042	0.0039	0.0008	0	0.0051	0.0029	0	9.413e-05	0.0034	0.0034	0.0033	0.0037	0.199	0.20456	T	0.218	0.26066	T	.	.	.	.	.	.	0.829118	0.06931	N	1.082370	1	0.08975	N	0.895	0.22405	L	1.03	0.40469	T	-2.93	0.61284	D	0.065	0.03726	-0.9869	0.33371	T	0.063	0.26172	T	8	0.0058558285	0.00131	T	.	.	.	0.014	0.01968	.	.	0.193865811164	0.18958	0.045826766500790886	0.04526	.	.	0.282062858343	0.07781	T	0.055709	0.30084	T	-0.679033	0.00049	T	-0.746656	0.03617	T	0.0160065823900935	0.00381	T	0.536546	0.18022	T	0.052159347	0.09688	0.054647636	0.09440	0.052159347	0.09688	0.054647636	0.09439	-2.112	0.03636	T	.	.	0.075	0.05623	B	.	.	-0.471518	0.01961	0.169	0.56456352124545495	0.05556	0.01355	0.04643	N	AEGI	0.038273	0.05391	N	-0.70671662489243	0.15832	0.8014227	-0.86082285758428	0.13027	0.6735502	9.1754588928357E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.32	-1.49	0.08259	-0.591000	0.05848	1.097000	0.24034	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4525:0.0:0.3836:0.1638	4.235	0.10074	750	0.51762	.	.	.	.	.	.	Likely benign	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	0.02381	2683.98	104	chr2	185796672	.	A	G	2683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=2179;ExcessHet=0.0000;FS=9.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-1.090e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:101,102:203:99:2698,0,2890	20	0	1	0
chr2	185802721	185802721	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.T13415C:p.M4472T,	.	.	431	1088	2	1	0	4	0.00183486	.	.	2757823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	0.945	N	0.55	N	0.63	T	-0.959	T	0.111	T	0.696	1.195	9.855	5.27	2.213	3.882	11.496	0.197	0.0146979009124	.	0.000399361	8.85e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs568938611	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	5.996e-05	0	0	0	0.0002	0.0002	0.0003	6.527e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.824e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.005	0.63226	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.945094	0.26671	N	2.39	0.68882	M	0.63	0.53088	T	-5.05	0.82700	D	0.643	0.65501	-0.9592	0.39330	T	0.111	0.39982	T	7	0.40932405	0.56114	T	0.014698	0.34987	T	0.197	0.47942	.	.	0.527098005314	0.52357	0.340552917499688	0.33968	.	.	0.537192940712	0.44050	T	0.103378	0.41198	T	-0.114127	0.34087	T	-0.165043	0.57895	T	0.42789763212204	0.29983	T	0.556944	0.19352	T	0.40312132	0.60948	0.6003498	0.76783	0.40312132	0.60949	0.6003498	0.76784	-2.903	0.09173	T	.	.	0.447	0.62048	A	.	.	2.418062	0.31091	18.64	0.84825980934672851	0.15520	0.76686	0.37630	D	AEFCI	.	.	.	0.197301160378569	0.51068	3.291212	0.298308462766671	0.55440	3.707085	0.0034320119670159	0.10114	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.023000	0.56921	7.902000	0.73606	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	11.496	0.49655	731	0.54177	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2665.98	108	chr2	185802721	.	T	C	2665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=2041;ExcessHet=0.0000;FS=4.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.599;SOR=0.846	GT:AD:DP:GQ:PL	0/1:98,111:209:99:2680,0,2508	20	0	1	0
chr2	196998982	196998982	G	C	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon24:c.C2590G:p.P864A	.	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.024	B	0.037	B	0.224	N	1.000	N	0.27	N	-0.03	T	-1.032	T	0.075	T	0.174	0.210	5.135	2.09	0.236	2.155	15.999	0.064	0.0274943792798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.159	0.36765	T	.	.	.	.	.	.	0.223661	0.16080	N	0.643332	1	0.08975	N	0.98	0.24916	L	-0.03	0.63403	T	-1.0	0.27876	N	0.155	0.16028	-1.0317	0.19905	T	0.075	0.30179	T	10	0.12583676	0.23917	T	0.027494	0.50302	D	0.071	0.20720	.	.	0.434057395736	0.43027	0.1762981465316837	0.17548	.	.	0.265163719654	0.05522	T	0.01413	0.12091	T	-0.137067	0.30356	T	-0.434664	0.29406	T	0.0575197429700264	0.06773	T	0.879912	0.59828	D	0.029197676	0.02375	0.08721102	0.20258	0.029197676	0.02375	0.08721102	0.20257	-3.571	0.22677	T	.	.	0.064	0.02518	B	.;.;.;.	.;.;.;.	1.484279	0.19102	14.09	0.82140085711680211	0.14039	0.23796	0.22191	N	AEFBI	0.100032	0.20124	N	-0.468139618699745	0.23130	1.23993	-0.505554525251204	0.22002	1.192934	0.00691900400081052	0.11340	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.97	2.09	0.26154	2.914000	0.48495	4.646000	0.44176	0.618000	0.50648	0.502000	0.26971	1.000000	0.68203	0.172000	0.21044	0.0:0.4021:0.5979:0.0	15.999	0.80070	406	0.82375	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;.	.	.	.	.	.	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	0.02381	609.98	34	chr2	196998982	.	G	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.879;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.38;SOR=0.784	GT:AD:DP:GQ:PL	0/1:25,24:49:99:624,0,651	20	0	1	0
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:9,2,13,0:24:99:248,272,606,0,154,168,308,548,209,571	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:9,2,13,0:24:99:248,272,606,0,154,168,308,548,209,571	2	0	4	0
chr2	202035234	202035234	G	A	exonic	FZD7	.	nonsynonymous SNV	FZD7:NM_003507:exon1:c.G587A:p.G196E,	.	.	385	1114	22	1	0	24	0.0106572	.	.	697252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.212	B	0.05	B	0.410	N	1.000	N	0	N	-0.98	T	-0.997	T	0.109	T	0.265	-0.764	0.776	3.73	2.409	2.168	9.803	0.241	.	0.0052	0.00379393	0.0080	0.0015	0.0051	0.0012	0.0029	0.0112	0.0103	0.0069	0.0077877	1204	154602	rs34908164	0.0100	0.0099	0.0100	0.0099	0.0115	0.0098	0.0098	0.0113	0.0112	0.0018	0.0046	0.0025	0.0006	0.0022	0.0056	0.0115	0.0086	0.0078	0.0069	0.0070	0.0074	0.0065	0.0120	0.0066	0.0065	0.0113	0.0111	0.0019	0	0.0052	0.0023	0.0010	0.0012	0.0034	0.0120	0.0109	0.0064	0.152	0.24468	T	0.643	0.06903	T	0.212	0.30008	B	0.05	0.25278	B	0.410093	0.13008	N	0.708385	1	0.08975	N	0.975	0.24501	L	-0.98	0.75789	T	-1.35	0.33598	N	0.291	0.32921	-0.9969	0.30783	T	0.109	0.39344	T	10	0.0064643323	0.00146	T	.	.	.	0.241	0.54641	.	.	0.546911003084	0.54346	0.39633418643055696	0.39548	1.20464397403	0.80653	0.636838555336	0.58116	T	0.325165	0.69591	T	-0.399875	0.02319	T	-0.334845	0.40926	T	0.00461873763491411	0.00049	T	0.59804	0.22252	T	0.11452147	0.27034	0.19855107	0.43694	0.11452147	0.27034	0.19855107	0.43693	-3.449	0.15725	T	.	.	0.099	0.16843	B	.	.	3.053620	0.40982	21.3	0.74618492157724425	0.10763	0.26292	0.22951	N	AEFDBHCI	0.111875	0.22134	N	-0.598175887330292	0.19000	0.9909846	-0.463324773165451	0.23171	1.262298	0.999999797962117	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	4.65	3.73	0.41982	2.304000	0.43315	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1489:0.6981:0.153	9.803	0.39940	329	0.86514	.	.	.	.	.	.	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	0.02381	2042.98	33	chr2	202035234	.	G	A	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=804;ExcessHet=0.0000;FS=1.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=1.66;SOR=0.479	GT:AD:DP:GQ:PL	0/1:35,67:102:99:2057,0,868	20	0	1	0
chr2	206962424	206962424	C	A	exonic	CPO	.	nonsynonymous SNV	CPO:NM_173077:exon7:c.C587A:p.S196Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.47	M	1.15	T	-0.249	T	0.319	T	0.838	2.590	14.62	5.5	2.868	6.956	16.943	0.421	0.0480340154308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.058674	0.999526	0.47407	D	4.16	0.97626	H	1.15	0.38236	T	-5.64	0.86914	D	0.785	0.78167	-0.2488	0.76392	T	0.319	0.68857	T	10	0.87911665	0.87215	D	0.048034	0.63192	D	0.421	0.73005	0.643	0.78010	0.608871453904	0.60573	0.8683413226907841	0.86799	0.550974970066	0.51951	0.45094037056	0.32073	T	0.050549	0.28626	T	0.20759	0.74604	D	0.0604121	0.74272	D	0.997319996356964	0.91263	D	0.79572	0.43862	T	0.926505	0.93888	0.8709938	0.92934	0.926505	0.93889	0.8709938	0.92935	-12.016	0.84930	D	.	.	0.805	0.77527	P	.	.	3.510695	0.49159	22.7	0.99020933166018554	0.50569	0.99089	0.91063	D	AEFBI	0.697354	0.65539	D	0.7188586308737	0.80866	7.390829	0.564905314945932	0.72439	5.810264	0.999961377938106	0.48965	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.5	5.5	0.81386	7.075000	0.76485	2.010000	0.30161	0.524000	0.24156	1.000000	0.71638	0.509000	0.25247	0.085000	0.17524	0.0:1.0:0.0:0.0	16.943	0.86092	272	0.89337	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase O	.	.	.	.	.	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	0.02381	750.98	33	chr2	206962424	.	C	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.408e+00;DP=755;ExcessHet=0.0000;FS=7.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.241;SOR=0.212	GT:AD:DP:GQ:PL	0/1:28,30:58:99:765,0,757	20	0	1	0
chr2	208124183	208124183	C	A	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.G181T:p.G61C,	Cataract 4, multiple types, Autosomal dominant	.	1	1513	7	1	0	9	0.0029654	.	.	612375	High_myopia|Aculeiform_cataract|not_specified	Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.255	H	-3.34	D	1.083	D	0.934	D	0.959	3.238	16.85	4.35	2.245	3.732	14.400	0.890	0.480295520724	.	0.000399361	0.0004	0.0022	0.0007	0.0001	0.0002	9.508e-05	0.0012	0.0007	0.0003687	57	154602	rs150857132	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0019	0.0009	3.828e-05	0.0006	3.786e-05	0.0009	0.0002	0.0005	0.0008	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0017	0	0.0017	0	0	0.0001	0.0005	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.335	0.98404	H	-3.34	0.93975	D	-8.62	0.97496	D	0.894	0.89353	1.083	0.98974	D	0.934	0.97839	D	10	0.8649771	0.85736	D	0.480296	0.94830	D	0.890	0.96836	.	.	0.971415806667	0.97110	0.8639262326446062	0.86356	0.91937406981	0.71397	0.489978194237	0.37435	T	0.874574	0.97319	D	0.188978	0.72870	D	0.493129	0.94469	D	0.223583431498506	0.21641	T	.	.	.	0.9839782	0.99398	0.9222859	0.96558	0.9839782	0.99398	0.9222859	0.96559	-12.919	0.89026	D	.	.	0.847	0.79595	P	.	.	3.498325	0.48928	22.7	0.99745039141813074	0.83778	0.98347	0.81862	D	AEFDBI	0.789676	0.71880	D	0.698254764658041	0.79516	7.094465	0.508805880472586	0.68580	5.239877	0.999999999714344	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	3.938000	0.56295	1.790000	0.28791	0.469000	0.21855	0.986000	0.36153	0.968000	0.29604	0.037000	0.13953	0.0:1.0:0.0:0.0	14.400	0.66603	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	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	0.04762	1776.11	34	chr2	208124183	.	C	A	1776.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=837;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.24;MQRankSum=-3.761e+00;QD=10.45;ReadPosRankSum=0.139;SOR=0.731	GT:AD:DP:GQ:PL	0/1:57,40:97:99:1182,0,1507	19	0	2	0
chr2	216190314	216190314	T	G	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon17:c.T1924G:p.F642V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.945	P	0.835	P	0.000	D	1.000	D	2.36	M	1.47	T	-0.927	T	0.147	T	0.824	3.708	18.83	3.59	0.815	3.598	8.619	0.235	0.0246419029469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	0.945	0.53279	P	0.835	0.59863	P	0.000000	0.84330	D	0.054918	0.999998	0.58761	D	2.85	0.82803	M	1.47	0.31987	T	-2.47	0.53898	N	0.77	0.76760	-0.9268	0.44602	T	0.147	0.47165	T	10	0.8350296	0.82660	D	0.024642	0.47627	T	0.235	0.53788	0.764	0.89213	0.189391138174	0.18552	0.6537417842352667	0.65310	0.577366764153	0.53660	0.574522852898	0.49315	T	0.310639	0.68258	T	0.116603	0.66029	D	-0.0702839	0.65605	T	0.953888177871704	0.64132	D	0.857114	0.54640	D	0.6795492	0.76945	0.36894402	0.62175	0.6795492	0.76946	0.36894402	0.62174	-8.327	0.63277	D	.	.	0.513	0.65181	A	.;.	.;.	3.599993	0.50844	23.0	0.99004022703461414	0.50210	0.94756	0.62222	D	AEFBI	0.770802	0.70563	D	0.421734393371515	0.62617	4.480752	0.352925761060331	0.58683	4.040428	0.99926295442153	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	4.78	3.59	0.40253	3.210000	0.50832	4.212000	0.42538	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0883:0.0:0.9117	8.619	0.33013	663	0.61610	Ku, C-terminal;Ku, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	37	chr2	216190314	.	T	G	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-01;DP=856;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-4.180e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:84,75:159:99:1806,0,2093	20	0	1	0
chr2	219608702	219608702	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon15:c.C1723T:p.R575C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.917	D	0.002	N	0.980	N	1.645	L	3.05	T	-1.125	T	0.044	T	0.501	3.386	17.42	4.39	2.282	2.054	9.684	0.137	0.0118011157842	.	0.000399361	0.0001	0	0.0003	0	0	0.0001	0	0	9.06e-05	14	154602	rs201039349	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0.0002	0	0	1.882e-05	0	0.0002	0.0002	0	9.851e-05	9.842e-05	0.0002	2.686e-05	0.0002	6.003e-05	4.877e-05	0.0001	8.878e-05	2.407e-05	0	6.538e-05	0	0	0	0	0.0002	0	0	0.081	0.33418	T	0.077	0.42436	T	.	.	.	.	.	.	0.001788	0.37998	N	0.173348	0.980123	0.25134	N	.	.	.	3.05	0.08721	T	-5.1	0.83027	D	0.574	0.59648	-1.1250	0.02037	T	0.044	0.18742	T	10	0.23969603	0.41115	T	0.011801	0.29782	T	0.137	0.36984	.	.	0.190952846119	0.18690	0.5667632144712199	0.56604	.	.	0.449534535408	0.31880	T	.	.	.	-0.330621	0.06065	T	-0.433255	0.29565	T	0.678423345088959	0.39717	D	0.861914	0.55630	D	0.2569332	0.48735	0.1588936	0.37083	0.2569332	0.48735	0.1588936	0.37082	-7.044	0.54354	T	.	.	0.182	0.39494	B	.	.	4.549050	0.71574	25.7	0.99891645288953468	0.96589	0.69078	0.34047	D	AEFDBHI	0.214849	0.34028	N	0.310343750451041	0.56677	3.832979	0.221143704249939	0.51023	3.288453	0.999989538629614	0.51787	0.758104	0.99027	0	0.724815	0.89359	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	1.752000	0.37977	3.226000	0.36880	0.599000	0.40250	0.720000	0.28821	0.117000	0.22861	0.981000	0.58702	0.2072:0.7928:0.0:0.0	9.684	0.39250	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	35	chr2	219608702	.	C	T	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.905e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1209,0,999	20	0	1	0
chr2	219629332	219629340	GAGGAAGAG	-	exonic	SLC4A3	.	nonframeshift deletion	SLC4A3:NM_001326559:exon4:c.406_414del:p.E143_E145del	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	.	0.0007	0.0002	0.0008	0	0.0008	0.0010	0	0.0001	0.0003074	8	26028	rs773479687	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0003	0.0010	0.0014	5.039e-05	0.0008	0.0009	0.0011	0.0011	0.0001	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0013	0.0012	0	0.0004	0	0.0010	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1035.94	33	chr2	219629331	.	TGAGGAAGAG	T	1035.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.339e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.58;ReadPosRankSum=-9.490e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:21,27:48:99:1050,0,788	20	0	1	0
chr2	227993592	227993592	G	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon9:c.C4663A:p.L1555I,	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.246	B	0.088	B	0.668	U	1.000	D	2.42	M	1.92	T	-1.098	T	0.085	T	0.139	4.003	20.5	4.22	0.839	3.666	11.152	0.089	0.00598760887519	0.0041	0.000599042	0.0049	0.0019	0.0056	0	0.0015	0.0077	0.0066	0.0007	0.0027878	431	154602	rs192502309	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0051	0.0063	0.0062	0.0007	0.0017	3.869e-05	0	0.0012	0.0005	0.0064	0.0044	0.0007	0.0031	0.0031	0.0032	0.0030	0.0056	0.0029	0.0028	0.0051	0.0050	0.0013	0	0.0013	0	0	0.0011	0	0.0056	0.0009	0.0004	0.034	0.44029	D	0.562	0.09052	T	0.246	0.31102	B	0.088	0.29688	B	0.668020	0.10367	U	0.733784	0.629214	0.81001	D	0.805	0.20218	L	1.92	0.23082	T	-1.3	0.32590	N	0.306	0.34552	-1.0983	0.04303	T	0.085	0.33128	T	10	0.00931713	0.00210	T	0.005988	0.15638	T	0.089	0.25827	.	.	0.104622674875	0.10061	0.21685634935439876	0.21601	0.107502488482	0.12131	0.540587246418	0.44528	T	0.138646	0.47224	T	-0.552249	0.00283	T	-0.563432	0.16056	T	0.0232859713187051	0.01057	T	0.768323	0.39714	T	0.134145	0.31177	0.14756745	0.34917	0.134145	0.31176	0.14756745	0.34916	-4.52	0.31149	T	.	.	0.154	0.34004	B	.	.	3.840403	0.55567	23.6	0.99456652209536833	0.65581	0.82523	0.41738	D	AEFHCI	0.456047	0.50808	N	0.10547907832834	0.46719	2.907944	0.204092439623866	0.50073	3.20331	6.42285704538237E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	4.22	0.49153	4.416000	0.59567	5.795000	0.49897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1384:0.7173:0.1442	11.152	0.47687	847	0.35998	.	.	.	.	.	.	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	0.02381	1858.98	34	chr2	227993592	.	G	T	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.668e+00;DP=868;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-7.000e-03;SOR=0.553	GT:AD:DP:GQ:PL	0/1:78,78:156:99:1873,0,1947	20	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del,	.	.	403	1114	5	0	0	5	0.00223914	.	.	719700	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3562.94	36	chr2	231460685	.	TTCC	T	3562.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.952;DP=888;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.46;ReadPosRankSum=-4.930e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:73,93:166:99:3577,0,2703	20	0	1	0
chr2	232381290	232381290	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon10:c.C1232G:p.T411R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.35	M	-4.11	D	1.053	D	0.940	D	0.746	3.285	17.03	2.35	1.294	4.851	11.176	0.681	0.154595679134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.365	0.91266	M	-4.11	0.96687	D	-5.62	0.86758	D	0.907	0.90818	1.053	0.98185	D	0.940	0.98026	D	10	0.93901074	0.93228	D	0.154596	0.83568	D	0.681	0.88300	0.579	0.70476	0.974988454498	0.97471	0.9566890913273798	0.95653	3.5385108973	0.99787	0.67681491375	0.63813	T	0.645459	0.89177	D	0.359765	0.87236	D	0.279001	0.87070	D	0.993907630443573	0.84907	D	0.924807	0.72410	D	0.9761114	0.98799	0.8704868	0.92899	0.9761114	0.98799	0.8704868	0.92900	-10.51	0.76905	D	.	.	0.722	0.73863	P	.	.	4.391702	0.67780	25.1	0.97623466091998834	0.34977	0.89073	0.49324	D	AEFDGBI	0.440530	0.49905	N	0.26175732647391	0.54222	3.588428	-0.0124448289624562	0.39151	2.317079	0.998941207027076	0.38034	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	2.35	2.35	0.28166	5.293000	0.65478	4.685000	0.44339	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	11.176	0.47825	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	949.98	48	chr2	232381290	.	C	G	949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.840e-01;DP=1415;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.25;MQRankSum=-4.880e-01;QD=3.34;ReadPosRankSum=0.092;SOR=0.720	GT:AD:DP:GQ:PL	0/1:218,66:284:99:964,0,5745	20	0	1	0
chr2	232409371	232409371	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon10:c.C1223G:p.T408R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.405	M	-4.11	D	1.007	D	0.939	D	0.727	3.165	16.59	1.59	0.345	6.508	9.395	0.730	0.0555106851239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999575	0.47641	D	3.635	0.94052	H	-4.11	0.96687	D	-5.62	0.86758	D	0.912	0.91391	1.007	0.97311	D	0.939	0.97999	D	10	0.9017012	0.89532	D	0.055511	0.66263	D	0.730	0.90545	0.582	0.70861	0.925535729078	0.92477	0.9252685344834828	0.92503	3.37465409467	0.99679	0.7576431036	0.75579	T	0.753273	0.93256	D	0.375473	0.88414	D	0.301565	0.88268	D	0.992567777633667	0.83076	D	0.926807	0.73035	D	0.95716333	0.96993	0.78795695	0.87519	0.95716333	0.96993	0.78795695	0.87519	-10.542	0.77088	D	.	.	0.698	0.72856	P	.	.	4.352895	0.66871	25.0	0.98810438186350902	0.46607	0.92233	0.55243	D	AEFDGBCI	0.473376	0.51809	N	0.34968718514256	0.58724	4.046391	0.11385880535536	0.45257	2.792067	0.852220616389389	0.25066	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.54	1.59	0.22622	6.931000	0.75678	4.633000	0.44124	0.414000	0.20733	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.7801:0.2199:0.0	9.395	0.37557	840	0.37365	.	.	.	.	.	.	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	0.02381	757.98	34	chr2	232409371	.	C	G	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.40;DP=1245;ExcessHet=0.0000;FS=4.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=-4.493e+00;QD=4.65;ReadPosRankSum=-1.763e+00;SOR=1.138	GT:AD:DP:GQ:PL	0/1:129,34:163:99:772,0,3360	20	0	1	0
chr2	233789904	233789904	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon5:c.C461T:p.S154F,	.	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.156	N	0.796	N	1.87	L	2.74	T	-1.104	T	0.062	T	0.875	4.042	20.7	4.41	2.401	3.726	13.222	0.274	.	.	0.000998403	0.0040	0.0011	0.0034	0	0.0612	0.0058	0.0065	0.0026	0.0014295	221	154602	rs141152795	0.0065	0.0062	0.0067	0.0063	0.0069	0.0064	0.0063	0.0067	0.0067	0.0010	0.0013	0.0023	0	0.0209	0.0028	0.0069	0.0052	0.0022	0.0051	0.0051	0.0048	0.0054	0.0071	0.0048	0.0047	0.0066	0.0064	0.0012	0.0066	0.0009	0.0026	0	0.0187	0	0.0071	0.0038	0.0025	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	0.155679	0.17823	N	0.357775	0.795712	0.29174	N	.	.	.	2.74	0.11730	T	-3.12	0.63782	D	0.818	0.83678	-1.1038	0.03661	T	0.062	0.25708	T	8	0.010955572	0.00242	T	.	.	.	0.274	0.59007	.	.	0.260249123532	0.25628	0.6228905632691863	0.62222	2.46197207718E-4	0.00014	.	.	.	0.065751	0.32768	T	-0.223566	0.17509	T	-0.0875156	0.64349	T	0.0158343611239122	0.00371	T	0.79802	0.44234	T	0.16531461	0.36795	0.21548507	0.46140	0.16531461	0.36795	0.21548507	0.46139	-9.47	0.70672	D	.	.	0.897	0.86814	P	.;.	.;.	4.293562	0.65498	24.8	0.99817045495501178	0.90061	0.82229	0.41488	D	AEFDBI	0.458834	0.50969	N	0.32186175946741	0.57272	3.893942	0.356145539269392	0.58878	4.06133	0.141493588581754	0.17281	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	3.647000	0.54144	5.642000	0.49152	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	13.222	0.59321	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1629.98	35	chr2	233789904	.	C	T	1629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=837;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-6.870e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1644,0,1529	20	0	1	0
chr2	238061070	238061070	G	A	exonic	SCLY	.	nonsynonymous SNV	SCLY:NM_016510:exon1:c.G16A:p.A6T,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.608	P	0.136	B	0.001	N	1.000	N	0	N	1.92	T	-1.018	T	0.025	T	0.29	1.757	11.83	0.061	0.010	0.249	3.282	0.011	.	.	0.00439297	0	0	.	.	.	0	.	0	0.0005498	85	154602	rs147010013	0.0070	0.0065	0.0069	0.0071	0.0081	0.0069	0.0068	0.0071	0.0071	0.0005	0.0072	0.0294	0.0001	0.0034	0.0081	0.0073	0.0072	0.0032	0.0060	0.0060	0.0058	0.0061	0.0106	0.0056	0.0055	0.0093	0.0087	0.0012	0	0.0106	0.0326	0.0002	0.0056	0.0034	0.0072	0.0076	0.0037	0.038	0.45393	D	0.487	0.30828	T	0.275	0.31898	B	0.136	0.33270	B	0.001286	0.00765	N	13.221200	1	0.08975	N	0	0.06538	N	1.9	0.31987	T	-0.27	0.11366	N	0.129	0.12341	-1.0183	0.24269	T	0.025	0.10733	T	10	0.0033251941	0.00057	T	.	.	.	0.043	0.11576	.	.	.	.	.	.	0.0754706685885	0.08464	0.612418651581	0.54658	T	.	.	.	-0.532072	0.00373	T	-0.527666	0.19521	T	0.0161218824820442	0.00389	T	0.648535	0.25952	T	.	.	.	.	.	.	.	.	-5.422	0.41130	T	.	.	0.135	0.29422	B	.;.;.	.;.;.	1.569317	0.20094	14.59	0.97398563485347733	0.33760	0.12284	0.17174	N	AEFGBHCIJ	0.033158	0.03879	N	-0.859386031030996	0.11819	0.5725303	-1.01280310145924	0.09503	0.4731744	0.999999999908548	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.12	0.061	0.13653	0.285000	0.18642	2.227000	0.31499	0.611000	0.49015	0.000000	0.06391	0.262000	0.23990	0.004000	0.06068	0.1769:0.2771:0.5459:0.0	3.282	0.06511	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	84.98	33	chr2	238061070	.	G	A	84.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.240e-01;DP=556;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.67;ReadPosRankSum=0.429;SOR=0.941	GT:AD:DP:GQ:PL	0/1:10,5:15:99:99,0,331	20	0	1	0
chr2	238253003	238253003	A	G	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon19:c.T3020C:p.M1007T,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	0.605	N	1.000	N	-1.905	N	2.98	T	-0.939	T	0.005	T	0.036	-1.444	0.020	-0.436	-0.219	-0.450	1.083	0.023	0.000759820551602	7.7e-05	0.00139776	0.0006	0	0	0.0064	0	9.025e-05	0	0.0007	0.0005821	90	154602	rs150509214	0.0003	0.0003	0.0003	0.0003	0.0061	0.0002	0.0002	0.0055	0.0053	0	2.236e-05	0.0013	0.0061	0	0	8.094e-06	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0075	0.0002	0.0002	0.0057	0.0050	0	0	0	0.0009	0.0075	0	0	1.471e-05	0	0.0012	0.658	0.04728	T	0.724	0.05274	T	0.0	0.02946	B	0.0	0.01387	B	0.604808	0.10923	N	0.818521	1	0.08975	N	-0.55	0.02420	N	2.98	0.09356	T	1.08	0.01263	N	0.024	0.00445	-0.9392	0.42743	T	0.005	0.01725	T	10	0.0026144385	0.00040	T	7.6E-4	0.00549	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.12623111326722666	0.12549	0.251633585946	0.27744	0.348521530628	0.17704	T	0.043628	0.26563	T	-0.770186	0.00013	T	-0.8697	0.00745	T	0.01483409283334	0.00313	T	0.161484	0.01457	T	0.042563498	0.06477	0.054294612	0.09312	0.042563498	0.06477	0.054294612	0.09311	-0.52	0.00595	T	.	.	0.050	0.00130	B	.	.	-0.841905	0.01027	0.043	0.34120210243762195	0.02070	0.01228	0.04347	N	AEFBCI	0.014906	0.00257	N	-1.75068716075572	0.00677	0.02921993	-1.67450020237641	0.01254	0.05653907	0.990559441672138	0.32192	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.85	-0.436	0.11663	-0.659000	0.05423	-0.006000	0.13130	-1.293000	0.01252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2976:0.1514:0.3971:0.1539	1.083	0.01544	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	0.02381	1828.98	36	chr2	238253003	.	A	G	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.782e+00;DP=867;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.550e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:71,76:147:99:1843,0,1844	20	0	1	0
chr2	240500538	240500538	C	T	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001282780:exon10:c.G1624A:p.D542N	.	.	420	1101	1	0	0	1	0.000453926	.	.	2194664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	1.0	D	1.0	D	0.000	D	1.000	D	0.935	L	4.06	T	-0.582	T	0.348	T	0.354	2.165	13.19	3.13	0.805	0.997	7.708	0.261	0.102722201783	0.0005	0.000399361	0.0004	9.619e-05	0.0004	0	0	0.0006	0	0.0003	0.0004075	63	154602	rs147582329	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0001	0.0004	0	0	0.0002	0.0003	0.0010	0.0005	0.0005	0.0004	0.0004	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	0.0003	0	0	9.413e-05	0	0.0008	0.0005	0.0004	0.993	0.15251	T	0.183	0.29153	T	0.98	0.90584	D	0.539	0.97372	P	0.000001	0.84330	D	0.000000	0.957524	0.38028	D	1.34	0.33385	L	-0.48	0.73739	T	-2.09	0.53096	N	0.374	0.42834	-0.5820	0.65538	T	0.348	0.71257	T	10	0.10395956	0.19141	T	0.102722	0.77634	D	0.261	0.57352	.	.	0.840818225028	0.83929	0.4828077861318687	0.48200	.	.	0.399794608355	0.25040	T	0.048191	0.27944	T	-0.293514	0.09286	T	-0.290639	0.45707	T	0.0480536336384634	0.05153	T	0.914708	0.69569	D	0.12933064	0.30211	0.080265015	0.18143	0.12933064	0.30211	0.080265015	0.18142	-6.16	0.47598	T	.	.	0.137	0.40666	B	.;.;.;.;.;.	.;.;.;.;.;.	2.632334	0.34230	19.57	0.99738319334316827	0.83337	0.37523	0.25781	N	AEFDBI	0.088386	0.17918	N	-0.1503958289106	0.35218	2.020083	-0.237794973001279	0.30194	1.697965	0.0141745124743771	0.12563	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	3.13	0.35090	1.143000	0.31164	1.134000	0.24350	0.545000	0.25583	0.770000	0.29357	0.628000	0.25851	0.011000	0.09372	0.0:0.8776:0.0:0.1224	7.708	0.27826	994	0.00715	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1740.98	37	chr2	240500538	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.67;SOR=0.740	GT:AD:DP:GQ:PL	0/1:94,69:163:99:1755,0,2213	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,96,0:98:99:.:.:4216,281,0,4349,412,4974	5	7	8	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:35,10,20:86:99:371,154,1459,0,685,737	0	0	1	0
chr2	241570278	241570278	G	A	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon4:c.G503A:p.R168H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	1.385	L	0.95	T	-0.858	T	0.118	T	0.713	4.551	24.6	4.94	2.269	8.593	18.149	0.301	.	0.0002	0.00439297	0.0028	0.0013	0.0554	0.0047	0	0.0002	0.0155	0.0013	0.0020116	311	154602	rs147943274	0.0011	0.0012	0.0012	0.0010	0.0283	0.0011	0.0011	0.0269	0.0263	0.0004	0.0283	0	0.0095	0	0	5.898e-05	0.0012	0.0006	0.0018	0.0018	0.0018	0.0017	0.0120	0.0016	0.0015	0.0105	0.0100	0.0012	0	0.0120	0	0.0056	0	0	8.819e-05	0.0009	0.0004	0.016	0.51853	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	0.95	0.43279	T	-1.7	0.40468	N	0.708	0.71143	-0.8584	0.51377	T	0.118	0.41582	T	10	0.016416788	0.00346	T	.	.	.	0.301	0.62179	.	.	0.697888366788	0.69528	0.6574356301224633	0.65680	0.622408035663	0.56510	0.744563221931	0.73643	T	0.124225	0.44911	T	-0.275478	0.11154	T	-0.146169	0.59581	T	0.0365160176253055	0.03070	T	0.966803	0.87909	D	0.36839417	0.58466	0.24173406	0.49578	0.36839417	0.58466	0.24173406	0.49577	-5.074	0.37632	T	.	.	0.258	0.49295	B	.	.	4.840966	0.79037	27.0	0.99952104043190837	0.99951	0.97899	0.77970	D	AEFDGBI	0.906220	0.85873	D	0.616393434174489	0.74212	6.09428	0.583099527925934	0.73729	6.018302	0.999999999999989	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.201000	0.94154	9.430000	0.80795	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:1.0:0.0	18.149	0.89601	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	0.02381	1705.98	37	chr2	241570278	.	G	A	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=832;ExcessHet=0.0000;FS=5.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=15.37;ReadPosRankSum=0.276;SOR=1.229	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1720,0,1281	20	0	1	0
chr2	241735267	241735267	C	G	exonic	D2HGDH	.	nonsynonymous SNV	D2HGDH:NM_152783:exon2:c.C43G:p.R15G,	D-2-hydroxyglutaric aciduria, Autosomal recessive	.	5	1511	6	0	0	6	0.00198151	.	.	168054	D-2-hydroxyglutaric_aciduria_1|not_specified|not_provided	MONDO:MONDO:0024554,MedGen:C3152055,OMIM:600721,Orphanet:79315|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.121	U	1.000	N	0.345	N	-2.02	D	-0.833	T	0.066	T	0.263	1.851	12.15	0.254	-0.079	-0.369	4.792	0.276	.	.	0.0191693	0.0161	0.0175	0.2982	0.1391	0	0.0078	0	0.0019	0.0085186	1317	154602	rs4675887	0.0058	0.0064	0.0062	0.0054	0.1083	0.0057	0.0057	0.1054	0.1042	0.0014	0.1083	4.172e-05	0.0680	0.0125	0.0010	0.0009	0.0070	0.0017	0.0084	0.0084	0.0075	0.0094	0.0509	0.0080	0.0079	0.0458	0.0439	0.0026	0	0.0458	0.0003	0.0509	0.0095	0	0.0010	0.0104	0.0027	0.049	0.39820	D	0.014	0.62352	D	0.0	0.02946	B	0.0	0.01387	B	0.120552	0.02721	U	3.243140	1	0.08975	N	1.355	0.33814	L	-2.02	0.85542	D	-1.03	0.27052	N	0.136	0.13341	-0.8325	0.53139	T	0.066	0.27087	T	10	0.001637876	0.00020	T	.	.	.	0.276	0.59253	.	.	.	.	0.5978447009045614	0.59715	0.511229259556	0.49206	0.592467665672	0.51843	T	0.04106	0.25735	T	-0.426555	0.01555	T	-0.288777	0.45900	T	0.00450277512470698	0.00048	T	0.480052	0.14488	T	0.10085263	0.23818	0.07943044	0.17880	0.07877462	0.17960	0.07710516	0.17144	-5.275	0.39695	T	.	.	0.068	0.02829	B	.	.	1.481748	0.19071	14.08	0.90945377868169164	0.20194	0.16420	0.19381	N	AEFDBHCI	0.052199	0.09295	N	-1.17749630334683	0.05341	0.2432584	-1.22698236685597	0.05480	0.2612293	0.999999967778004	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.6	0.254	0.14814	0.861000	0.27540	0.519000	0.19148	0.318000	0.19305	0.229000	0.24633	0.001000	0.17328	0.035000	0.13729	0.4356:0.3539:0.2104:0.0	4.792	0.12621	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	0.02381	411.98	33	chr2	241735267	.	C	G	411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=743;ExcessHet=0.0000;FS=11.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.720e-01;SOR=3.556	GT:AD:DP:GQ:PL	0/1:23,14:37:99:426,0,654	20	0	1	0
chr2	241803754	241803754	C	T	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C785T:p.A262V,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.004	B	0.678	N	1.000	N	0.345	N	2.37	T	-1.059	T	0.026	T	0.065	1.334	10.38	2.58	2.238	1.010	8.571	0.068	0.00236364218773	0.0007	0.000998403	0.0019	0.005	0	0	0	0.0013	0	0.0021	0.0006274	97	154602	rs200028725	0.0028	0.0027	0.0028	0.0027	0.0033	0.0027	0.0027	0.0032	0.0031	0.0002	0.0016	4.154e-05	0	0.0001	0.0002	0.0033	0.0031	0.0012	0.0017	0.0017	0.0019	0.0016	0.0028	0.0016	0.0015	0.0025	0.0024	0.0006	0	0.0024	0	0	9.445e-05	0	0.0028	0.0014	0.0019	0.178	0.22138	T	0.302	0.20228	T	0.001	0.07471	B	0.004	0.10090	B	0.677553	0.06073	N	1.184440	1	0.08975	N	0.45	0.12780	N	2.37	0.15964	T	-1.27	0.31981	N	0.156	0.16168	-1.0587	0.12083	T	0.026	0.11353	T	10	0.0050794184	0.00110	T	0.002364	0.04590	T	0.068	0.19811	.	.	0.0401082797425	0.02173	0.1312809929180252	0.13053	0.453220319075	0.45017	0.751231193542	0.74627	T	0.008389	0.07706	T	-0.66054	0.00062	T	-0.721741	0.04712	T	0.0134622719303566	0.00245	T	0.242376	0.03494	T	0.08406446	0.19440	0.17667465	0.40218	0.08406446	0.19439	0.17667465	0.40217	-5.828	0.44818	T	0.2361608698934675	0.31978	0.122	0.25495	B	.	.	1.450123	0.18712	13.88	0.98414755395322007	0.41212	0.14085	0.18214	N	ALL	0.095077	0.19215	N	-0.819656349453087	0.12809	0.6267576	-0.78695306624032	0.14815	0.7760724	0.999999887906829	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	2.58	0.30011	0.612000	0.23979	-0.271000	0.10347	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2405:0.6371:0.1224:0.0	8.571	0.32728	964	0.07719	.	.	.	.	.	.	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	0.02381	1201.98	33	chr2	241803754	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=816;ExcessHet=0.0000;FS=3.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.023;SOR=1.112	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1216,0,1425	20	0	1	0
chr2	241815108	241815108	C	T	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon3:c.C457T:p.R153W	.	.	.	.	.	.	.	.	.	.	.	2200882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.002	N	1.000	N	2.63	M	-2.52	D	-0.056	T	0.748	D	0.491	3.066	16.24	1.13	0.894	1.765	2.481	0.381	0.0586995923795	.	.	5.134e-05	0	0	0	0	9.003e-05	0	0	3.23e-05	5	154602	rs780252296	7.589e-05	7.661e-05	7.383e-05	7.799e-05	9.473e-05	6.418e-05	5.965e-05	7.962e-05	7.44e-05	0	0	0	0	0	0	9.473e-05	5.079e-05	1.197e-05	4.6e-05	4.597e-05	7.709e-05	1.345e-05	6.54e-05	2.109e-05	1.527e-05	1.972e-05	1.125e-05	4.829e-05	0	6.54e-05	0	0	0	0	5.881e-05	0	0	0.006	0.63226	D	0.014	0.62352	D	1.0	0.90584	D	0.99	0.78936	D	0.002222	0.36970	N	0.267246	1	0.08975	N	3.215	0.89331	M	-2.52	0.89363	D	-4.26	0.77308	D	0.356	0.41162	-0.0557	0.81085	T	0.748	0.91391	D	10	0.532533	0.63265	D	0.059	0.67410	D	0.381	0.69863	0.519	0.62066	0.857149403248	0.85576	0.7203839926266576	0.71981	0.0549770881719	0.06090	0.720967411995	0.70187	T	0.944098	0.99144	D	0.0921544	0.63430	D	-0.105403	0.62976	T	0.710439622402191	0.41222	D	0.874313	0.58483	D	0.17861782	0.38891	0.11358199	0.27413	0.17861782	0.38891	0.11358199	0.27412	-7.704	0.59035	D	.	.	0.130	0.30971	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.777793	0.54301	23.5	0.99825439522625359	0.90764	0.16988	0.19639	N	AEFDBCI	0.223465	0.34782	N	0.145357353323021	0.48592	3.069614	-0.0517422741216057	0.37415	2.190372	0.983656385180592	0.30594	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.57	1.13	0.19758	1.933000	0.39783	-0.031000	0.12795	-0.939000	0.02101	0.029000	0.20367	0.000000	0.08366	0.016000	0.10718	0.4335:0.3442:0.118:0.1044	2.481	0.04307	958	0.09170	Sialidase;Sialidase;Sialidase;.;Sialidase;.;Sialidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	484.98	33	chr2	241815108	.	C	T	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.944e+00;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=-3.160e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:21,22:43:99:499,0,544	20	0	1	0
chr3	4663132	4663132	G	A	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_001168272:exon15:c.G1435A:p.V479I	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	.	0	1504	14	4	0	22	0.00726073	.	.	294804	not_specified|not_provided|Autosomal_dominant_cerebellar_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.017	B	0.067	B	0.000	D	1.000	D	2.015	M	-3.69	D	0.463	D	0.762	D	0.279	3.645	18.53	4.72	2.456	7.771	17.896	0.370	0.0599945184088	0.0051	0.00239617	0.0049	0.0007	0.0020	0	0.0020	0.0064	0.0067	0.0068	0.004573	707	154602	rs41289628	0.0050	0.0050	0.0048	0.0051	0.0069	0.0049	0.0048	0.0064	0.0062	0.0007	0.0028	0.0096	2.519e-05	0.0022	0.0068	0.0052	0.0050	0.0069	0.0041	0.0041	0.0040	0.0042	0.0077	0.0038	0.0037	0.0057	0.0055	0.0008	0	0.0041	0.0101	0	0.0021	0.0102	0.0062	0.0038	0.0077	0.192	0.21467	T	0.214	0.26714	T	0.001	0.07471	B	0.021	0.19346	B	0.000003	0.62929	D	0.059666	0.999999	0.81001	D	0.75	0.19020	N	-3.69	0.95317	D	-0.89	0.24026	N	0.189	0.24135	0.463	0.90018	D	0.762	0.91901	D	10	0.009360462	0.00211	T	0.059995	0.67852	D	0.370	0.68930	.	.	0.708692949378	0.70615	0.3552037144996847	0.35434	0.604812756181	0.55401	0.632503271103	0.57501	T	0.676252	0.90445	D	-0.205022	0.20083	T	-0.0636908	0.66073	T	0.0141147048771662	0.00275	T	0.950605	0.81072	D	0.102727726	0.24277	0.10690388	0.25727	0.0894288	0.20895	0.11964186	0.28875	-8.74	0.66440	D	0.270347362583344	0.36379	0.093	0.14797	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.000332	0.58941	24.0	0.99651111488804855	0.77317	0.98385	0.82238	D	AEFGBI	0.809970	0.73334	D	0.111021091355861	0.46976	2.929913	0.253818259429494	0.52866	3.45872	0.999999999999978	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.72	4.72	0.59248	8.098000	0.89376	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.896	0.88806	952	0.10565	.;.;.;.;.;.;RIH 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	0.02381	1929.98	36	chr3	4663132	.	G	A	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e+00;DP=857;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-5.840e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1944,0,1638	20	0	1	0
chr3	9725967	9725967	T	C	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.966	T	0.069	T	.	0.922	8.754	-5.95	-0.976	-4.666	1.389	0.035	.	0.0022	0.00219649	0.0030	0.0001	0.0011	0.0001	0.0002	0.0038	0.0033	0.0058	0.0031306	484	154602	rs71314361	0.0036	0.0036	0.0036	0.0037	0.0068	0.0036	0.0035	0.0063	0.0061	0.0003	0.0013	0.0016	2.521e-05	0.0004	0.0036	0.0040	0.0027	0.0068	0.0023	0.0023	0.0025	0.0022	0.0050	0.0021	0.0020	0.0034	0.0032	0.0004	0	0.0029	0.0020	0	0.0003	0.0034	0.0037	0.0038	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	0.02381	1274.98	33	chr3	9725967	.	T	C	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=807;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.167;SOR=0.515	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1289,0,1597	20	0	1	0
chr3	13343188	13343188	C	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon21:c.G2951A:p.R984H,	.	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.263	B	0.031	B	0.000	D	1.000	D	2.095	M	3.46	T	-1.077	T	0.021	T	0.249	2.835	15.44	4.08	0.937	4.132	11.065	0.103	0.0153549776788	.	.	0.0001	0	0.0009	0	0	1.5e-05	0	0.0001	8.41e-05	13	154602	rs199921179	2.942e-05	2.941e-05	3.131e-05	2.75e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0002	2.987e-05	0.0004	0	0	0	0.0005	1.079e-05	3.312e-05	6.957e-05	1.314e-05	1.313e-05	2.568e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.139	0.25768	T	0.17	0.30436	T	0.263	0.31569	B	0.031	0.21939	B	0.000105	0.50451	D	0.134244	0.999949	0.51968	D	2.045	0.56016	M	3.46	0.05249	T	-1.11	0.28703	N	0.408	0.44857	-1.0773	0.07881	T	0.021	0.08917	T	10	0.1068632	0.19824	T	0.015355	0.36047	T	0.103	0.29403	.	.	0.32980341726	0.32591	0.4741852732392197	0.47337	0.212619117767	0.23763	0.466758579016	0.34236	T	0.059371	0.31098	T	-0.446319	0.01187	T	-0.520302	0.20263	T	0.0752732557332402	0.09372	T	0.881012	0.60027	D	0.066216044	0.14226	0.05376841	0.09122	0.066216044	0.14226	0.05376841	0.09121	-7.058	0.54456	T	.	.	0.088	0.11654	B	.	.	3.616451	0.51161	23.1	0.99534330819313255	0.70087	0.87075	0.46507	D	AEFBCI	0.447685	0.50323	N	0.0203769407738984	0.42782	2.584279	0.115833349746479	0.45358	2.80039	0.999999497904727	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.620846	0.47308	0	.	.	5.87	4.08	0.46880	2.923000	0.48565	2.678000	0.33996	0.599000	0.40250	0.985000	0.35982	0.993000	0.31925	0.993000	0.69303	0.1296:0.8034:0.0:0.0669	11.065	0.47186	804	0.43891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2288.98	33	chr3	13343188	.	C	T	2288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.114e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:125,97:222:99:2303,0,2946	20	0	1	0
chr3	15074122	15074124	TCC	-	exonic	RBSN	.	nonframeshift deletion	RBSN:NM_001302378:exon13:c.2013_2015del:p.E672del	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs550571960	4.515e-05	4.515e-05	2.042e-05	7.013e-05	0.0007	3.641e-05	3.321e-05	0.0006	0.0005	0	0	0	0	0	0.0002	0	4.967e-05	0.0007	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1973.94	109	chr3	15074121	.	TTCC	T	1973.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.209e+00;DP=1119;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=0.958;SOR=0.579	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1988,0,2532	20	0	1	0
chr3	15451673	15451673	C	T	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_080539:exon16:c.G1237A:p.D413N	Myasthenic syndrome, congenital, 5, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	631002	Congenital_myasthenic_syndrome_5	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.255	M	-3.28	D	1.012	D	0.908	D	0.274	4.790	27.0	5.49	2.574	7.173	19.361	0.783	0.613245393386	.	.	1.648e-05	0	8.639e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs770753693	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0001	8.94e-06	7.26e-06	4.907e-05	3.165e-05	0	6.708e-05	0	0.0001	0	0	6.295e-06	3.312e-05	3.478e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	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	0.993	0.92359	D	0.000000	0.84330	D	0.046027	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.52	0.60507	D	0.691	0.90476	1.012	0.97389	D	0.908	0.96949	D	10	0.83328635	0.82488	D	0.613245	0.96630	D	0.783	0.92787	.	.	0.982093447026	0.98190	0.7548930069117097	0.75436	0.0949871506179	0.10726	0.73571228981	0.72342	T	0.50555	0.82414	D	-0.0501656	0.44421	T	-0.0176871	0.69181	D	0.386661409556021	0.28437	T	0.934707	0.75876	D	0.62252843	0.73899	0.5722859	0.75229	0.62252843	0.73900	0.5722859	0.75229	-7.024	0.54209	T	0.6396002771396248	0.71011	0.223	0.47632	B	.;.;.;.	.;.;.;.	5.426590	0.90767	31	0.99888928951962375	0.96359	0.98669	0.85367	D	AEFI	0.879865	0.80610	D	0.828683388508142	0.87864	9.367681	0.806621333846898	0.90248	10.322	0.999999999998764	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.442000	0.79626	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.361	0.94428	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1005.98	35	chr3	15451673	.	C	T	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=786;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-8.090e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1020,0,1375	20	0	1	0
chr3	31990450	31990450	T	G	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.T1371G:p.N457K,	.	.	398	1104	18	1	1	21	0.00897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	-0.07	N	2.39	T	-0.953	T	0.002	T	0.041	0.222	5.197	0.336	0.327	-5.110	2.419	0.015	.	0.0177	0.0175719	0.0005	0.0066	0.0004	0	0	0	0	0	0.0011513	178	154602	rs144696614	0.0006	0.0006	0.0007	0.0005	0.0233	0.0006	0.0005	0.0219	0.0213	0.0233	0.0011	0	0	0	0.0012	1.375e-05	0.0015	2.484e-05	0.0043	0.0045	0.0047	0.0038	0.0151	0.0040	0.0039	0.0141	0.0137	0.0151	0	0.0023	0	0	0	0	8.839e-05	0.0039	0	0.121	0.27783	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.05	0.04954	N	2.39	0.15724	T	-3.09	0.63438	D	0.124	0.11626	-0.9527	0.40503	T	0.002	0.00676	T	8	0.0025694072	0.00039	T	.	.	.	0.015	0.02232	0.376	0.38994	0.0666544352282	0.05500	0.02442042329240481	0.02393	0.191270352614	0.21451	0.354639679193	0.18602	T	0.005596	0.05051	T	-0.740714	0.00020	T	-0.825084	0.01352	T	0.00725243305885721	0.00083	T	0.0151985	0.00086	T	0.10068857	0.23776	0.0663581	0.13582	0.10068857	0.23776	0.0663581	0.13581	-6.77	0.52336	T	.	.	0.202	0.42706	B	.	.	0.136065	0.05307	1.800	0.502633418104522	0.04353	0.01561	0.05106	N	AEFBCI	0.034865	0.04394	N	-1.38762660372573	0.02753	0.1220231	-1.47576379948865	0.02544	0.117202	0.763878227592155	0.23556	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-2.864000	0.00793	-4.453000	0.02149	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.4617:0.0:1.0E-4:0.5382	2.419	0.04173	946	0.12043	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	0.02381	5473.98	33	chr3	31990450	.	T	G	5473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.770e-01;DP=1879;ExcessHet=0.0000;FS=1.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-1.459e+00;QD=17.89;ReadPosRankSum=-1.576e+00;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,148:306:99:0|1:31990450_T_G:5488,0,6049:31990450	20	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,38,0:294:99:0|1:38274345_GCACCC_G:172,0,10028,933,10137,11070:38274345	18	0	1	0
chr3	38274347	38274350	ACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.454_457del:p.T152Sfs*61,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,38,0:294:99:0|1:38274345_GCACCC_G:172,0,10028,933,10137,11070:38274345	18	0	1	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,38,0:294:99:0|1:38274345_GCACCC_G:172,0,10028,933,10137,11070:38274345	18	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,38,0:294:99:0|1:38274345_GCACCC_G:172,0,10028,933,10137,11070:38274345	18	0	1	0
chr3	38274350	38274350	-	TGGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.457_458insTGGGG:p.M154Gfs*62,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	150.94	39	chr3	38274350	.	C	CTGGGG	150.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.244e+00;DP=1045;ExcessHet=0.0000;FS=156.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=3.36;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,37:290:99:0|1:38274345_GCACCC_G:165,0,9916:38274345	20	0	1	0
chr3	38316356	38316356	C	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon9:c.C1565T:p.S522L	.	.	420	1092	10	0	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.105	B	0.075	B	0.434	N	1.000	N	0.805	L	-0.87	T	-0.950	T	0.186	T	0.298	-0.199	3.036	-7.15	-1.571	-0.241	8.348	0.230	0.0376042779347	0.0002	0.000399361	0.0003	0	0.0003	0	0	0.0005	0	0.0002	0.0003234	50	154602	rs114208565	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0006	0.0026	0	0	0.0014	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	0	0.0003	0.0020	0	0	0.0034	0.0003	0.0005	0.0002	0.179	0.22053	T	0.208	0.26883	T	0.105	0.25993	B	0.075	0.28327	B	0.433562	0.12717	N	0.717397	1	0.08975	N	2.395	0.69210	M	-0.87	0.74583	T	-2.08	0.47514	N	0.141	0.20528	-0.9503	0.40920	T	0.186	0.53511	T	10	0.012195647	0.00263	T	0.037604	0.57720	D	0.230	0.53062	.	.	0.126345400529	0.12197	0.5692113325808656	0.56849	0.103224085065	0.11672	0.325457215309	0.14246	T	0.072234	0.34403	T	-0.352229	0.04588	T	-0.389696	0.34587	T	0.0304590083119495	0.02061	T	0.651635	0.26249	T	0.05686059	0.11243	0.10386161	0.24930	0.05686059	0.11242	0.10386161	0.24930	-4.532	0.31305	T	.	.	0.093	0.14062	B	.;.	.;.	0.229873	0.06111	2.557	0.40562412371357626	0.02870	0.00867	0.03440	N	AEFDBI	0.026854	0.02088	N	-1.55820446275771	0.01487	0.06492294	-1.68663539190947	0.01197	0.05390796	0.965967003477489	0.28869	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	-7.15	0.01369	-0.154000	0.10116	-0.251000	0.10506	-1.807000	0.00617	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2372:0.4199:0.343	8.348	0.31448	557	0.71576	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	42	chr3	38316356	.	C	T	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-2.320e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:49,31:80:99:780,0,1316	20	0	1	0
chr3	38597917	38597917	G	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon14:c.C2074A:p.Q692K	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	1	1511	10	0	0	10	0.00329815	.	.	78607	Cardiovascular_phenotype|Brugada_syndrome_1|not_provided|Long_QT_syndrome_3|Dilated_cardiomyopathy_1E|Ventricular_fibrillation,_paroxysmal_familial,_type_1|Cardiac_arrhythmia|Brugada_syndrome|Progressive_familial_heart_block,_type_1A|Sick_sinus_syndrome_1|Long_QT_syndrome|not_specified|Cardiomyopathy	MedGen:CN230736|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130|MedGen:C3661900|MONDO:MONDO:0011377,MedGen:C1859062,OMIM:603830,Orphanet:101016,Orphanet:768|MONDO:MONDO:0011003,MedGen:C1832680,OMIM:601154,Orphanet:154|MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MONDO:MONDO:0024562,MedGen:C1837845,OMIM:608567,Orphanet:166282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.002	B	0.372	N	0.958	N	1.245	L	-3.68	D	0.062	D	0.746	D	0.711	1.417	10.67	1.95	0.211	-0.035	11.668	0.538	0.312933388748	0.0002	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	0	0.000304	47	154602	rs45553235	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0006	0.0026	0	1.873e-05	0.0014	0.0002	0.0005	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0	0	0.0003	0.0020	0	0	0.0102	0.0002	0.0009	0.0002	0.065	0.36310	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.06944	B	0.371739	0.13517	N	0.715661	0.957677	0.26253	N	0.71	0.18616	N	-3.68	0.95595	D	-1.11	0.33401	N	0.208	0.32481	0.062	0.83463	D	0.746	0.91316	D	10	0.042114347	0.02930	T	0.312933	0.91241	D	0.538	0.80664	.	.	0.976690773532	0.97644	0.8978174920946688	0.89752	0.444491301545	0.44356	0.403675973415	0.25581	T	0.429258	0.77812	T	-0.0222164	0.48538	T	0.0774827	0.75409	D	0.00775337267787807	0.00091	T	0.775922	0.40781	T	0.081142776	0.18629	0.10284355	0.24660	0.08313185	0.19182	0.11785347	0.28448	-6.135	0.47395	T	0.12970477601987612	0.13575	0.096	0.15251	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.643069	0.20970	14.99	0.93879375496908657	0.23895	0.68074	0.33666	D	AEFBI	0.316019	0.42043	N	-0.432132237670402	0.24351	1.314171	-0.33166829328936	0.27082	1.500316	0.145371832945725	0.17348	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.9	1.95	0.25130	-0.073000	0.11428	0.011000	0.13441	0.618000	0.50648	0.853000	0.30494	0.040000	0.21562	0.878000	0.41950	0.0:0.3911:0.4871:0.1217	11.668	0.50649	604	0.67577	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2382.98	34	chr3	38597917	.	G	T	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=900;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.330e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:104,95:199:99:2397,0,2632	20	0	1	0
chr3	39101071	39101071	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_001278789:exon2:c.C95T:p.A32V	.	.	416	1092	14	0	0	14	0.00636943	.	.	2827273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.085	M	1.09	T	0.174	D	0.467	T	0.888	4.283	22.4	4.99	2.318	7.711	15.43	0.526	0.0686469416642	0.0043	0.00199681	0.0055	0.0013	0.0032	0	0.0039	0.0084	0.0056	0.0015	0.0055627	860	154602	rs61743223	0.0058	0.0058	0.0058	0.0058	0.0078	0.0057	0.0056	0.0065	0.0065	0.0006	0.0037	0.0065	2.519e-05	0.0046	0.0078	0.0066	0.0046	0.0016	0.0043	0.0043	0.0045	0.0041	0.0069	0.0041	0.0040	0.0063	0.0061	0.0011	0.0110	0.0030	0.0089	0	0.0038	0.0068	0.0069	0.0071	0.0010	0.001	0.78490	D	0.006	0.74150	D	0.998	0.90584	D	0.978	0.84481	D	0.000002	0.62929	D	0.099404	1	0.81001	D	3.575	0.93507	H	1.09	0.67011	T	-3.9	0.73788	D	0.861	0.87049	0.174	0.85466	D	0.467	0.79427	T	10	0.016513765	0.00348	T	0.068647	0.70508	D	0.526	0.79947	.	.	0.78019012614	0.77816	0.8234265704893947	0.82299	0.451247227632	0.44877	0.652100801468	0.60284	T	0.296374	0.79933	T	0.026475	0.55251	T	0.274648	0.86829	D	0.060574304240651	0.07258	T	0.992867	0.97673	D	0.7968173	0.83703	0.6958277	0.82091	0.7968173	0.83704	0.6958277	0.82092	-9.443	0.70504	D	.	.	0.875	0.82966	P	.;.;.;.;.	.;.;.;.;.	4.764593	0.77065	26.6	0.99922181327377657	0.98852	0.96283	0.68385	D	AEFDGBCI	0.930240	0.91724	D	0.672706016409155	0.77845	6.753676	0.521857658585025	0.69463	5.364013	0.999999998827916	0.74766	0.758104	0.99027	0	0.697927	0.68747	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.861000	0.85420	11.726000	0.94905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.139:0.861:0.0	15.43	0.74810	359	0.84979	GRASP55/65 PDZ-like domain;.;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1826.98	37	chr3	39101071	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=864;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.43;SOR=0.487	GT:AD:DP:GQ:PL	0/1:76,65:141:99:1841,0,2072	20	0	1	0
chr3	40189855	40189855	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon8:c.G496A:p.G166R	.	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	1.83	L	1.56	T	-0.982	T	0.146	T	0.406	3.817	19.38	4.13	0.834	7.199	9.494	0.333	0.0505735074257	0.0002	.	0.0008	0	0.0002	0	0	0.0004	0	0.0041	0.0006598	102	154602	rs151142713	0.0004	0.0004	0.0003	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	0	8.957e-05	0	2.52e-05	3.759e-05	0.0066	0.0002	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0	0	0.0002	0	0	0.0002	0	0.0023	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.054221	0.999707	0.48408	D	2.72	0.79541	M	1.56	0.29602	T	-4.35	0.79571	D	0.674	0.79792	-0.9821	0.34515	T	0.146	0.47038	T	9	0.022714823	0.00575	T	0.050574	0.64299	D	0.333	0.65522	0.465	0.53566	0.550717487069	0.54728	0.34709370442562215	0.34623	0.569308612202	0.53113	0.709820210934	0.68567	T	0.209256	0.56943	T	-0.363599	0.03930	T	-0.297797	0.44958	T	0.169856835708151	0.18571	T	0.90001	0.65919	D	0.591905	0.72254	0.5492331	0.73939	0.591905	0.72255	0.5492331	0.73939	-9.842	0.72960	D	.	.	0.581	0.74739	P	.;.;.;.;.	.;.;.;.;.	4.185683	0.63049	24.5	0.99867280516764223	0.94547	0.97607	0.75865	D	AEFBI	0.904244	0.85429	D	0.357511716201636	0.59138	4.090716	0.317366859466169	0.56559	3.819485	0.992772833971725	0.32963	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.94	4.13	0.47661	7.575000	0.81761	11.742000	0.95215	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0747:0.0:0.7831:0.1421	9.494	0.38141	839	0.37672	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1773.98	35	chr3	40189855	.	G	A	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=865;ExcessHet=0.0000;FS=8.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.896e+00;SOR=1.257	GT:AD:DP:GQ:PL	0/1:86,73:159:99:1788,0,2134	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,46,0,0,0:46:99:2019,2021,2022,2021,2022,2022,137,138,138,0,2021,2022,2022,138,2022,2021,2022,2022,138,2022,2022,2021,2022,2022,138,2022,2022,2022	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,46,0,0,0:46:99:2019,2021,2022,2021,2022,2022,137,138,138,0,2021,2022,2022,138,2022,2021,2022,2022,138,2022,2022,2021,2022,2022,138,2022,2022,2022	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,46,0,0,0:46:99:2019,2021,2022,2021,2022,2022,137,138,138,0,2021,2022,2022,138,2022,2021,2022,2022,138,2022,2022,2021,2022,2022,138,2022,2022,2022	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,46,0,0,0:46:99:2019,2021,2022,2021,2022,2022,137,138,138,0,2021,2022,2022,138,2022,2021,2022,2022,138,2022,2022,2021,2022,2022,138,2022,2022,2022	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,46,0,0,0:46:99:2019,2021,2022,2021,2022,2022,137,138,138,0,2021,2022,2022,138,2022,2021,2022,2022,138,2022,2022,2021,2022,2022,138,2022,2022,2022	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,94,0,0,0:94:99:4143,284,0,4143,284,4143,4143,284,4143,4143,4143,284,4143,4143,4143	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,94,0,0,0:94:99:4143,284,0,4143,284,4143,4143,284,4143,4143,4143,284,4143,4143,4143	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/1:0,94,0,0,0:94:99:4143,284,0,4143,284,4143,4143,284,4143,4143,4143,284,4143,4143,4143	1	3	1	0
chr3	42659204	42659204	C	G	exonic	ZBTB47	.	nonsynonymous SNV	ZBTB47:NM_145166:exon2:c.C849G:p.D283E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.053	N	1.000	D	0	N	-0.49	T	-0.847	T	0.040	T	0.024	-0.520	1.626	-6.61	-2.427	-1.185	0.077	0.118	.	.	0.00599042	0.0043	0.0326	0	0	0	0.0002	0	0	0.0002911	45	154602	rs339722	0.0009	0.0009	0.0010	0.0008	0.0311	0.0009	0.0008	0.0295	0.0288	0.0311	0.0019	0	0.0005	0	0.0013	4.711e-05	0.0019	0.0001	0.0077	0.0077	0.0079	0.0075	0.0262	0.0073	0.0072	0.0249	0.0244	0.0262	0	0.0046	0	0.0010	0	0	7.391e-05	0.0038	0.0002	1.0	0.00964	T	0.667	0.06365	T	.	.	.	.	.	.	0.052919	0.22854	N	0.434701	0.999997	0.58761	D	-0.28	0.03718	N	-0.49	0.70365	T	0.4	0.03463	N	0.068	0.04072	-0.8474	0.52148	T	0.040	0.17404	T	10	0.0023302436	0.00034	T	.	.	.	0.118	0.32913	0.225	0.14960	0.082315109003	0.07666	0.003311796078080994	0.00309	0.383668656916	0.39687	0.627155601978	0.56742	T	0.012382	0.10895	T	-0.294599	0.09179	T	-0.660947	0.08202	T	0.00432933672689897	0.00046	T	0.252875	0.03859	T	0.0238458	0.01159	0.021285662	0.00185	0.0238458	0.01159	0.021285662	0.00185	-1.221	0.01280	T	.	.	0.060	0.01011	B	.	.	-2.112783	0.00078	0.001	0.51032165693959308	0.04489	0.03176	0.08154	N	AEFDBHCI	0.024394	0.01506	N	-1.91254952012753	0.00324	0.01389453	-1.9845100870225	0.00330	0.01457393	0.999999613190071	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.31	-6.61	0.01652	-1.252000	0.02990	-1.941000	0.04461	-0.822000	0.02949	0.061000	0.21800	0.207000	0.23614	0.043000	0.14563	0.2784:0.229:0.1745:0.3181	0.077	0.00025	365	0.84644	.	.	.	.	.	.	Likely benign	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	0.04762	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:18,0,15:33:99:0|1:42659204_CGAGGAG_C:557,611,1347,0,736,690:42659204	19	0	1	0
chr3	42659205	42659210	GAGGAG	-	exonic	ZBTB47	.	nonframeshift deletion	ZBTB47:NM_145166:exon2:c.850_855del:p.E293_E294del,	.	.	336	1177	9	0	0	9	0.00380872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0	0	0	0	0	0	0.0096	0.0003299	51	154602	rs757343130	0.0003	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	3.247e-05	8.644e-05	0	0	0	0.0013	3.486e-05	0.0004	0.0054	0.0002	0.0002	0.0001	0.0003	0.0038	0.0001	0.0001	0.0025	0.0020	0	0	0.0001	0	0.0002	0	0	7.391e-05	0.0005	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:18,0,15:33:99:0|1:42659204_CGAGGAG_C:557,611,1347,0,736,690:42659204	19	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	1/1:0,66,0:66:99:2971,199,0,2971,199,2971	2	7	11	0
chr3	46860813	46860813	G	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C170A:p.A57D,	Cardiomyopathy, hypertrophic, 8	YES	0	1519	2	0	1	3	0.000657895	.	.	52291	not_provided|Primary_familial_hypertrophic_cardiomyopathy|Long_QT_syndrome|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy_8	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|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|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.855	H	-2.07	D	1.017	D	0.874	D	0.817	4.806	27.2	4.36	2.415	7.826	14.794	0.887	0.334127719381	.	0.000199681	0.0001	0	8.64e-05	0.0003	0	7.498e-05	0	0.0003	0.0001035	16	154602	rs139794067	0.0001	0.0001	9.392e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	2.987e-05	2.236e-05	0.0002	0.0002	1.873e-05	0.0016	6.475e-05	0.0003	0.0006	0.0001	0.0001	0.0002	0.0001	0.0005	8.665e-05	7.257e-05	0.0003	0.0002	2.408e-05	0	0.0005	0	0.0004	0	0	8.824e-05	0.0005	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.675	0.99424	H	-2.07	0.85943	D	-5.24	0.83967	D	0.948	0.95608	1.017	0.97484	D	0.874	0.95800	D	10	0.8601358	0.85229	D	0.334128	0.91834	D	0.887	0.96725	0.609	0.74182	0.911396127066	0.91050	0.9180211833213052	0.91778	1.37316763178	0.84586	0.740424573421	0.73036	T	0.832211	0.96005	D	0.089004	0.63078	D	0.239503	0.85124	D	0.836173832416534	0.49018	D	0.775222	0.40690	T	0.94658726	0.95918	0.8868588	0.94045	0.94786704	0.96049	0.9072095	0.95490	-14.337	0.94100	D	0.5562322403670272	0.62435	0.990	0.93538	P	.;.	.;.	5.252082	0.88183	29.5	0.99698610453873182	0.80453	0.98008	0.78831	D	AEFDBCI	0.978123	0.99754	D	1.0578397734241	0.97271	15.85376	0.901658909791623	0.95643	13.82304	0.999999999999284	0.74766	0.525926	0.21836	0	0.573078	0.20572	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	8.154000	0.89585	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.794	0.69488	138	0.94518	EF-hand domain;EF-hand domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2797.98	34	chr3	46860813	.	G	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=968;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.821;SOR=0.778	GT:AD:DP:GQ:PL	0/1:109,114:223:99:2812,0,2907	20	0	1	0
chr3	46989375	46989375	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon5:c.G446A:p.R149H	Gray platelet syndrome, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	.	.	734089	not_provided|Gray_platelet_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	.	.	1.000	D	-0.345	N	0.5	T	-1.099	T	0.052	T	0.096	1.143	9.658	-2.16	-0.163	1.349	3.659	0.036	0.0145040141877	0.0006	0.000998403	0.0023	0.0003	0.0013	0	0	0.0027	0.0033	0.0034	0.0007956	123	154602	rs199797249	0.0007	0.0007	0.0006	0.0009	0.0037	0.0007	0.0007	0.0034	0.0033	6.13e-05	0.0004	0.0141	7.966e-05	0	0.0016	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	0.0001	0	0.0007	0.0144	0	0	0	0.0003	0.0024	0.0025	0.535	0.06913	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-1.355	0.00654	N	0.5	0.55608	T	0.01	0.06868	N	0.126	0.11912	-1.0993	0.04177	T	0.052	0.22192	T	9	0.0032401085	0.00055	T	0.014504	0.34657	T	0.036	0.09122	.	.	0.102598925029	0.09809	0.11799494674644576	0.11726	0.236531920032	0.26193	0.215354144573	0.01059	T	0.021182	0.16539	T	-0.565021	0.00237	T	-0.586811	0.13943	T	0.0177228832903244	0.00502	T	0.783622	0.42065	T	0.0276266	0.01981	0.03702246	0.03269	0.03915508	0.05352	0.03297379	0.02117	-4.292	0.28065	T	.	.	0.056	0.00436	B	.	.	3.037572	0.40708	21.2	0.78254874175789135	0.12222	0.56748	0.30197	D	AEFBCI	0.072370	0.14440	N	-0.853301204120781	0.11969	0.5806503	-0.717842699980631	0.16516	0.8741012	0.999626527138235	0.41093	0.722319	0.85440	0	0.696144	0.67643	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.92	-2.16	0.06684	1.354000	0.33660	2.706000	0.34198	-0.116000	0.14526	0.999000	0.42656	0.955000	0.29136	0.992000	0.67800	0.2782:0.0:0.3325:0.3893	3.659	0.07770	29	0.98227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	38	chr3	46989375	.	G	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=812;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.74;SOR=1.129	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1092,0,1361	20	0	1	0
chr3	47004508	47004508	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon37:c.G6110A:p.R2037H	Gray platelet syndrome, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	720479	not_provided|NBEAL2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.988	D	0.953	D	0.000	D	1.000	D	2.58	M	-1.12	T	-0.300	T	0.373	T	0.668	4.328	22.7	3.84	1.223	7.471	11.733	0.741	0.0574986854791	0.0002	0.000798722	0.0007	0.0001	8.666e-05	0	0	3.01e-05	0	0.0047	0.0005563	86	154602	rs200204458	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0039	5.974e-05	2.237e-05	0	0	0	0.0005	8.095e-05	0.0003	0.0045	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0046	0.0040	4.815e-05	0	0	0	0	0	0	8.821e-05	0	0.0064	0.0	0.91255	D	.	.	.	0.988	0.62325	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999985	0.58761	D	2.94	0.84723	M	-1.12	0.77593	T	-4.67	0.79571	D	0.514	0.54496	-0.2998	0.74991	T	0.373	0.73213	T	10	0.012597293	0.00270	T	0.057499	0.66989	D	0.741	0.91026	.	.	0.795362046961	0.79346	0.80506708242705	0.80460	0.889378951497	0.70148	0.745577216148	0.73793	T	0.563303	0.85418	D	-0.106266	0.35386	T	0.0740598	0.75182	D	0.22823044318075	0.21867	T	0.974503	0.90930	D	0.759966	0.81451	0.68806493	0.81651	0.759966	0.81453	0.68806493	0.81652	-10.444	0.76525	D	0.23495724238624666	0.31812	0.174	0.38080	B	.	.	4.876017	0.79927	27.2	0.99938683635474179	0.99698	0.98417	0.82562	D	AEFDGBI	0.841857	0.75902	D	0.390300205235279	0.60895	4.283766	0.396694216787195	0.61362	4.335098	0.999999999842478	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.72	3.84	0.43422	7.776000	0.84252	5.882000	0.50656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0867:0.0:0.9133:0.0	11.733	0.51015	25	0.98345	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	39	chr3	47004508	.	G	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=999;ExcessHet=0.0000;FS=3.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-1.235e+00;SOR=1.012	GT:AD:DP:GQ:PL	0/1:68,88:156:99:2466,0,1651	20	0	1	0
chr3	47121539	47121539	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A2965G:p.T989A	Luscan-Lumish syndrome, Autosomal dominant	.	419	1093	9	1	0	11	0.00500683	.	.	138954	not_provided|Luscan-Lumish_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.01	B	0.002	B	0.006	N	0.991	N	0	N	1.62	T	-0.818	T	0.310	T	0.232	1.346	10.42	3.87	2.115	0.833	3.094	0.090	0.0128914804187	0.0007	0.000998403	0.0010	9.654e-05	0.0002	0	0	0.0011	0.0011	0.0028	0.0008926	138	154602	rs145759179	0.0007	0.0007	0.0006	0.0008	0.0037	0.0007	0.0007	0.0033	0.0032	2.987e-05	0.0004	0.0135	0	0	0.0017	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	9.619e-05	0	0.0007	0.0141	0	0	0	0.0003	0.0019	0.0025	0.156	0.24090	T	0.363	0.16815	T	0.01	0.15535	B	0.002	0.06944	B	0.006156	0.32237	N	0.218075	0.990508	0.24162	N	0.145	0.08828	N	-2.29	0.87591	D	-1.1	0.46146	N	0.077	0.05162	-0.8181	0.54053	T	0.310	0.68012	T	10	0.004057318	0.00079	T	0.012891	0.31852	T	0.090	0.26093	.	.	0.514870668196	0.51130	0.18933225162775694	0.18851	0.250755808032	0.27649	0.328769266605	0.14747	T	0.09115	0.38735	T	-0.350524	0.04694	T	-0.279016	0.46905	T	0.00928954911060886	0.00118	T	0.621638	0.24364	T	0.034744233	0.03958	0.032573316	0.02014	0.033782486	0.03665	0.027065253	0.00834	-3.247	0.13063	T	0.09114623702421147	0.05752	0.068	0.07507	B	.;.	.;.	1.675540	0.21359	15.16	0.97746549279741712	0.35714	0.26711	0.23071	N	AEFDBI	0.029261	0.02731	N	-0.42219843412744	0.24693	1.335111	-0.248005505942052	0.29840	1.675123	0.999912977257654	0.45857	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	3.87	0.43823	0.848000	0.27362	3.062000	0.36164	0.665000	0.62972	0.384000	0.26039	1.000000	0.68203	0.996000	0.76049	0.0:0.2071:0.2665:0.5264	3.094	0.05922	13	0.98894	.;.	.	.	.	.	.	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	0.02381	3001.98	43	chr3	47121539	.	T	C	3001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.68;DP=1033;ExcessHet=0.0000;FS=2.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=-1.660e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/1:60,102:162:99:3016,0,1554	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,53,52:105:99:4385,2167,2107,2221,0,2064	0	4	6	0
chr3	49842483	49842483	C	T	exonic	TRAIP	.	nonsynonymous SNV	TRAIP:NM_005879:exon6:c.G473A:p.R158Q,	Seckel syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.211	B	0.018	B	0.000	N	1.000	D	1.355	L	-1.07	T	-0.857	T	0.253	T	0.152	1.669	11.54	1.83	0.333	0.366	9.838	0.142	0.0320850453081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959180233	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0002	8.31e-06	6.7e-06	9.89e-06	3.88e-06	5.974e-05	4.472e-05	0	2.519e-05	0	0.0002	9.892e-06	3.312e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.138	0.25873	T	0.013	0.63109	D	0.211	0.29987	B	0.018	0.18489	B	0.000418	0.44736	N	0.221758	0.991015	0.58761	D	0.98	0.24916	L	-1.07	0.76948	T	-0.69	0.23156	N	0.273	0.30914	-0.8574	0.51448	T	0.253	0.62292	T	10	0.11997643	0.22714	T	0.032085	0.54006	D	0.142	0.37995	0.169	0.07419	0.656813955947	0.65394	0.12307327735444547	0.12233	0.423052942413	0.42785	0.256692409515	0.04504	T	0.142602	0.47827	T	-0.24116	0.15201	T	-0.402658	0.33076	T	0.0612418373011549	0.07363	T	0.80002	0.46176	T	0.026425015	0.01698	0.047292404	0.06780	0.026425015	0.01698	0.047292404	0.06779	-5.838	0.44904	T	.	.	0.074	0.05060	B	.;.	.;.	1.570635	0.20107	14.59	0.9833885557197064	0.40418	0.25007	0.22568	N	AEFBI	0.070012	0.13882	N	-0.762697614465334	0.14291	0.7106645	-0.696865279156462	0.17039	0.9041903	0.988634223903297	0.31579	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.67	1.83	0.24279	0.298000	0.18874	-0.477000	0.08942	-0.193000	0.09282	0.045000	0.21207	0.000000	0.08366	0.865000	0.41091	0.0:0.6709:0.0:0.3291	9.838	0.40151	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	41	chr3	49842483	.	C	T	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.456;DP=863;ExcessHet=0.0000;FS=5.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.910e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:82,75:157:99:1764,0,1884	20	0	1	0
chr3	49910333	49910333	T	C	exonic	MON1A	.	nonsynonymous SNV	MON1A:NM_001142501:exon3:c.A970G:p.T324A	.	.	423	1057	41	1	0	43	0.0199351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	B	0.079	B	0.000	N	0.879	D	0.55	N	.	.	-1.006	T	0.092	T	0.132	0.902	8.667	4.77	1.074	4.219	7.885	0.234	0.0122626836389	0.0019	0.00259585	0.0041	0.0004	0.0053	0.0001	0.0003	0.0046	0.0055	0.0075	0.0038227	591	154602	rs139967875	0.0034	0.0034	0.0031	0.0036	0.0154	0.0033	0.0032	0.0128	0.0119	0.0004	0.0042	0.0022	0	0.0003	0.0154	0.0032	0.0043	0.0087	0.0025	0.0025	0.0026	0.0024	0.0079	0.0023	0.0022	0.0059	0.0052	0.0006	0	0.0039	0.0009	0	0.0005	0.0102	0.0035	0.0066	0.0079	0.528	0.30235	T	0.129	0.34837	T	.	.	.	.	.	.	0.000023	0.55875	N	0.191223	0.878784	0.35708	D	1.485	0.37223	L	.	.	.	-0.28	0.11547	N	0.179	0.19325	-1.0055	0.28307	T	0.092	0.35065	T	8	0.0066067576	0.00150	T	0.012263	0.30673	T	0.234	0.53644	.	.	0.398581233421	0.39469	0.3438070955695745	0.34294	0.886748449925	0.70032	0.439069926739	0.30449	T	0.010163	0.09205	T	-0.472505	0.00820	T	-0.446089	0.28129	T	0.028436535226899	0.01751	T	0.775622	0.40735	T	0.077696264	0.17650	0.053613525	0.09065	0.077696264	0.17650	0.053613525	0.09064	-4.639	0.33920	T	.	.	0.059	0.02927	B	.;.;.;.;.	.;.;.;.;.	2.886048	0.38205	20.7	0.84069631274082601	0.15079	0.86097	0.45315	D	AEFGBCI	0.591198	0.58739	D	-0.187414585622346	0.33658	1.91204	0.0147105771458396	0.40397	2.410217	0.999999212471759	0.74766	0.72623	0.87236	0	0.724815	0.89359	0	0.594344	0.31042	0	0.714379	0.83352	0	.	.	5.92	4.77	0.60425	4.206000	0.58271	5.080000	0.47258	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0691:0.1377:0.7932	7.885	0.28809	1	0.99630	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1505.98	35	chr3	49910333	.	T	C	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-02;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-4.600e-02;SOR=0.676	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1520,0,1914	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:14,19,0:33:99:746,0,522,788,579,1367	5	0	8	1
chr3	52247197	52247197	T	A	exonic	PPM1M	.	nonsynonymous SNV	PPM1M:NM_144641:exon3:c.T566A:p.I189N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.953	D	0.011	N	1.000	D	2.105	M	2.37	T	-1.033	T	0.100	T	0.389	4.425	23.5	4.35	1.813	3.651	12.238	0.154	0.0165499268516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.957	0.59044	D	0.72	0.69275	P	0.011467	0.29519	N	0.248012	0.995921	0.81001	D	2.015	0.55033	M	2.37	0.15964	T	-4.14	0.75220	D	0.677	0.68690	-1.0333	0.19395	T	0.100	0.37162	T	10	0.5878318	0.66211	D	0.01655	0.37860	T	0.154	0.40340	0.451	0.51285	0.276898752692	0.27294	.	.	.	.	0.482504665852	0.36402	T	0.023423	0.23055	T	-0.101987	0.36095	T	-0.384274	0.35222	T	0.975767970085144	0.71078	D	0.959104	0.84591	D	0.7740984	0.82294	0.6451691	0.79256	0.7740984	0.82296	0.6451691	0.79257	.	.	.	.	.	0.362	0.60318	A	.;.	.;.	4.876030	0.79927	27.2	0.99387251116345343	0.62157	0.90737	0.52166	D	AEFDGBCI	0.529485	0.55057	D	0.512336727447001	0.67819	5.132691	0.468000648592122	0.65880	4.880138	0.999999999703847	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.35	4.35	0.51454	3.348000	0.51923	7.845000	0.70699	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.912000	0.44740	0.0:0.0:0.0:1.0	12.238	0.53838	138	0.94518	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	34	chr3	52247197	.	T	A	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.144e+00;DP=802;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.064;SOR=0.789	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1087,0,1356	20	0	1	0
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:42,57,0:99:99:1310,0,964,1437,1135,2572	13	1	6	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	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,83:144:99:0|1:75730450_C_T:3302,0,2291:75730450	0	0	20	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,54:163:99:.:.:1059,0,4110	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,76:170:99:.:.:2502,0,3659	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,65:158:99:0|1:75736920_C_A:2449,0,3709:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,68:169:99:0|1:75736920_C_A:2551,0,4022:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:95,76:171:99:1909,0,2609	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2234,0,2355	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:126,89:215:99:1938,0,3346	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,99:197:99:0|1:75737092_C_T:3842,0,3817:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,99:200:99:0|1:75737092_C_T:3833,0,3943:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,96:201:99:0|1:75737092_C_T:3715,0,4120:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,82:189:99:0|1:75737092_C_T:3121,0,4246:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,47:146:99:0|1:75737092_C_T:1676,0,3996:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,8:99:55:0|1:75737228_T_C:55,0,3797:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,92:180:99:.:.:3514,0,3323	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,126:231:99:0|1:75737590_A_G:4913,0,4008:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,133:247:99:0|1:75737590_A_G:5241,0,4386:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,140:255:99:0|1:75737590_A_G:5532,0,4407:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,138:264:99:0|1:75737590_A_G:5415,0,4875:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,132:246:99:0|1:75737590_A_G:5199,0,4389:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,76:227:99:0|1:75737814_C_T:2636,0,5706:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,35:193:99:0|1:75737881_T_C:816,0,6397:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,25:189:99:0|1:75737881_T_C:510,0,6785:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,25:190:99:0|1:75737881_T_C:507,0,6810:75737881	0	0	21	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:84,29:113:99:464,0,2386	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:49,36:85:99:788,0,1355	0	0	21	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	.	79	1375	60	8	0	76	0.0268931	.	.	171093	Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Finnish_congenital_nephrotic_syndrome|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.481	N	1.000	N	-0.44	N	-2.22	D	-0.833	T	0.221	T	0.672	-0.520	1.629	-0.333	0.110	-0.158	1.258	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1737.98	33	chr3	93900833	.	C	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=0.855;QD=9.93;ReadPosRankSum=-1.521e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:101,74:175:99:1752,0,2422	20	0	1	0
chr3	98788435	98788435	A	G	exonic	ST3GAL6	.	nonsynonymous SNV	ST3GAL6:NM_001271148:exon5:c.A296G:p.H99R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.001	N	1.000	N	0.56	N	1.69	T	-1.030	T	0.067	T	0.182	2.181	13.25	3.69	0.992	0.538	8.136	0.062	0.00349048039997	0.0002	.	1.673e-05	0	0	0	0	3.02e-05	0	0	1.29e-05	2	154602	rs375615700	7.55e-06	8.209e-06	5.462e-06	9.66e-06	0.0002	4.05e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.103e-06	1.662e-05	0	1.315e-05	1.313e-05	0	2.692e-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	0.861	0.53900	T	0.373	0.59159	T	0.0	0.02946	B	0.001	0.04355	B	0.000884	0.41231	N	0.168221	0.781605	0.29326	N	0.16	0.08945	N	1.69	0.47130	T	-1.5	0.36586	N	0.221	0.24758	-1.0300	0.20454	T	0.067	0.27674	T	10	0.10518831	0.27235	T	0.00349	0.07908	T	0.062	0.17934	.	.	0.415947407303	0.41207	0.5784126833651109	0.57770	0.247577077221	0.27312	0.331316322088	0.15133	T	0.041733	0.25955	T	-0.231811	0.16409	T	-0.555271	0.16824	T	0.0573847692693285	0.06750	T	0.744825	0.56255	T	0.116549544	0.27489	0.07259991	0.15682	0.116549544	0.27489	0.07259991	0.15682	-3.369	0.14642	T	.	.	0.072	0.04396	B	.;.;.;.;.;.	.;.;.;.;.;.	2.053833	0.26112	17.00	0.9697151249090844	0.31819	0.66369	0.33054	D	AEFBI	0.403121	0.47694	N	-0.46221750468933	0.23326	1.251919	-0.275621410704418	0.28904	1.615177	0.999981337393734	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	4.84	3.69	0.41483	0.848000	0.27362	.	.	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	1.000000	0.97212	0.9019:0.0:0.0981:0.0	8.136	0.30216	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1174.98	36	chr3	98788435	.	A	G	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e+00;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.52;SOR=0.727	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1189,0,1343	20	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:106,31:137:92:92,0,1982	12	0	8	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,14:29:99:0|1:100775333_T_C:167,0,187:100775333	4	0	17	0
chr3	111884943	111884943	A	G	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon2:c.A866G:p.K289R	.	.	.	.	.	.	.	.	.	.	.	2384595	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.412	B	0.292	B	0.000	D	1.000	N	1.5	L	1.42	T	-1.013	T	0.080	T	0.456	2.187	13.27	4.24	0.992	2.330	9.359	0.071	0.0056147470251	7.7e-05	0.000199681	5.771e-05	0.0002	0	0	0	7.498e-05	0	0	5.17e-05	8	154602	rs201171421	5.404e-05	5.404e-05	5.037e-05	5.775e-05	0.0014	4.41e-05	4.082e-05	0.0007	0.0005	0.0006	2.236e-05	0	0	0	0.0014	3.507e-05	0.0001	4.637e-05	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.433e-05	0.0002	0	0	0	0	0	0	4.411e-05	0.0005	0	0.163	0.27426	T	0.912	0.45318	T	0.006	0.35138	B	0.009	0.40739	B	0.000013	0.62929	D	0.149524	0.744116	0.29705	N	1.265	0.31966	L	1.37	0.34253	T	-0.17	0.27876	N	0.28	0.31702	-1.0127	0.26070	T	0.080	0.31765	T	10	0.04632309	0.03809	T	0.005615	0.14500	T	0.071	0.20720	.	.	0.563619085548	0.56024	0.20648886737180056	0.20564	0.0754955918741	0.08473	0.384101569653	0.22836	T	0.006814	0.12902	T	-0.251836	0.13873	T	-0.396868	0.33749	T	0.0430634766817093	0.04249	T	0.80112	0.44691	T	0.025320772	0.01457	0.047346596	0.06801	0.025320772	0.01457	0.047346596	0.06801	-3.444	0.15656	T	.	.	0.103	0.18828	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.973637	0.25071	16.63	0.99507911183305142	0.68440	0.78806	0.38937	D	AEFGBCI	0.219848	0.34468	N	-0.211032873914839	0.32681	1.845692	-0.0596495867924802	0.37075	2.165994	0.999974796341369	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.4	4.24	0.49486	2.321000	0.43465	6.160000	0.54327	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9166:0.0:0.0834:0.0	9.359	0.37346	587	0.69154	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1330.98	39	chr3	111884943	.	A	G	1330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=825;ExcessHet=0.0000;FS=3.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.09;SOR=0.654	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1345,0,1937	20	0	1	0
chr3	111913569	111913569	G	C	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon3:c.G1586C:p.S529T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.004	B	0.422	N	0.619	N	0.205	N	1.49	T	-1.031	T	0.014	T	0.231	0.558	7.020	-0.978	-0.157	-0.160	7.452	0.021	.	0.0103	0.00958466	0.0031	0.0322	0.0021	0	0	0.0002	0.0022	6.057e-05	0.0029172	451	154602	rs75096697	0.0010	0.0010	0.0011	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0018	0	0	0	0.0036	8.813e-05	0.0021	0.0002	0.0091	0.0092	0.0091	0.0091	0.0313	0.0087	0.0086	0.0299	0.0293	0.0313	0	0.0041	0	0	0	0.0034	0.0001	0.0076	0.0002	0.479	0.12961	T	0.736	0.14241	T	0.0	0.07471	B	0.003	0.10090	B	0.422002	0.04653	N	1.263880	0.999967	0.18878	N	-0.345	0.03330	N	1.46	0.33412	T	-0.63	0.21860	N	0.113	0.11769	-1.0308	0.20195	T	0.014	0.05417	T	10	0.0019050837	0.00026	T	.	.	.	0.021	0.04004	.	.	0.28722502521	0.28325	0.16873633379753655	0.16793	0.0833550312895	0.09400	0.359975218773	0.19382	T	0.005253	0.16130	T	-0.566421	0.00232	T	-0.562716	0.16123	T	0.00124588225523636	0.00012	T	0.612239	0.23293	T	0.07009185	0.15409	0.03312377	0.02156	0.07009185	0.15409	0.03312377	0.02156	-4.733	0.35214	T	.	.	0.067	0.03661	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.280500	0.06573	3.063	0.82004509776895718	0.13970	0.05786	0.11720	N	AEFDGBI	0.053999	0.09779	N	-0.996821715854038	0.08671	0.4074583	-0.918050470763418	0.11669	0.5958593	0.999912412645064	0.45857	0.741868	0.97996	0	0.563428	0.19063	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.64	-0.978	0.09754	-0.109000	0.10810	0.450000	0.18513	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.917000	0.45243	0.2454:0.4836:0.271:0.0	7.452	0.26413	586	0.69252	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	0.02381	2204.98	33	chr3	111913569	.	G	C	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.644;DP=895;ExcessHet=0.0000;FS=4.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.805;SOR=0.778	GT:AD:DP:GQ:PL	0/1:92,81:173:99:2219,0,2538	20	0	1	0
chr3	113533141	113533141	C	G	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001308350:exon1:c.C120G:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.003	B	0.426	N	1.000	N	0	N	2.71	T	-0.961	T	0.014	T	0.044	-0.370	2.257	-6.15	-0.970	-0.783	6.332	0.002	0.0030883955208	.	.	1.695e-05	0	0	0	0	3.061e-05	0	0	6.5e-06	1	154602	rs757374837	4.216e-06	4.104e-06	4.184e-06	4.25e-06	4.568e-06	1.52e-06	1e-06	1.34e-06	9.7e-07	0	0	0	0	0	0	4.568e-06	1.699e-05	0	6.576e-06	1.313e-05	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.648	0.04880	T	0.68	0.06109	T	0.001	0.07471	B	0.003	0.08700	B	0.426324	0.04678	N	1.432590	1	0.08975	N	0	0.06538	N	2.71	0.12055	T	0.54	0.02764	N	0.033	0.01274	-0.9608	0.39031	T	0.014	0.05608	T	10	0.04155284	0.02822	T	0.003088	0.06696	T	0.002	0.00045	0.094	0.01195	0.0138822411134	0.00435	0.259290304781361	0.25843	0.0983236163126	0.11101	0.677603363991	0.63925	T	0.010591	0.09546	T	-0.401243	0.02272	T	-0.814134	0.01574	T	0.0288040306323357	0.01807	T	0.369563	0.08694	T	0.0364572	0.04487	0.052030653	0.08493	0.0364572	0.04487	0.052030653	0.08493	-1.337	0.01461	T	.	.	0.157	0.42390	B	.;.	.;.	-0.252203	0.02835	0.395	0.45659522456723367	0.03600	0.01597	0.05185	N	AEFDGBHCI	0.062845	0.12106	N	-1.68493597343649	0.00896	0.03880228	-1.72936287357385	0.01013	0.04543716	0.99999999997547	0.74766	0.437478	0.07067	0	0.52208	0.09955	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.67	-6.15	0.01925	-0.476000	0.06671	-0.535000	0.08614	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6229:0.1996:0.1041:0.0733	6.332	0.20481	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1767.98	38	chr3	113533141	.	C	G	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.899;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-1.531e+00;SOR=0.720	GT:AD:DP:GQ:PL	0/1:79,73:152:99:1782,0,1938	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	0/2:30,0,26,0,0,0:56:99:1004,1094,2326,0,1232,1152,1094,2326,1232,2326,1094,2326,1232,2326,2326,1094,2326,1232,2326,2326,2326	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	0/2:30,0,26,0,0,0:56:99:1004,1094,2326,0,1232,1152,1094,2326,1232,2326,1094,2326,1232,2326,2326,1094,2326,1232,2326,2326,2326	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	0/2:30,0,26,0,0,0:56:99:1004,1094,2326,0,1232,1152,1094,2326,1232,2326,1094,2326,1232,2326,2326,1094,2326,1232,2326,2326,2326	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	0/2:30,0,26,0,0,0:56:99:1004,1094,2326,0,1232,1152,1094,2326,1232,2326,1094,2326,1232,2326,2326,1094,2326,1232,2326,2326,2326	0	4	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:92,32:131:47:47,0,1769	3	0	14	4
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	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	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	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:128055734_T_C:129,0,878:128055734	7	0	14	0
chr3	129062173	129062173	G	A	exonic	GP9	.	nonsynonymous SNV	GP9:NM_000174:exon3:c.G434A:p.R145H,	Bernard-Soulier syndrome, type C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.182	U	1.000	N	0.69	N	-1.23	T	-0.872	T	0.185	T	0.061	-0.215	2.959	-7.84	-2.980	-0.952	0.829	0.135	0.0601575437165	.	0.000798722	0.0004	0	0	0	0	0.0001	0	0.0013	0.0001682	26	154602	rs571825199	0.0001	0.0001	7.523e-05	0.0002	0.0011	0.0001	9.596e-05	0.0010	0.0009	6.096e-05	5.002e-05	0	0	0	0.0010	4.555e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.212e-05	0	6.53e-05	0	0	0	0	0.0002	0	0.0027	0.68	0.04430	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.181966	0.03188	U	1.868380	1	0.08975	N	-0.35	0.03145	N	-1.23	0.78860	T	1.13	0.01182	N	0.045	0.01740	-0.8721	0.50371	T	0.185	0.53421	T	10	0.006854087	0.00156	T	0.060158	0.67906	D	0.135	0.36572	0.515	0.61459	0.174091166621	0.17034	0.3539957468986322	0.35313	0.204946080272	0.22915	0.339257150888	0.16327	T	0.044913	0.26961	T	-0.536084	0.00353	T	-0.583357	0.14246	T	0.0059775862925401	0.00066	T	0.424758	0.11367	T	0.014825456	0.00109	0.020771788	0.00154	0.017810853	0.00305	0.026591022	0.00757	-4.601	0.32184	T	.	.	0.069	0.03060	B	.	.	-0.382547	0.02279	0.237	0.70137606179154632	0.09198	0.00108	0.00689	N	AEFDBIJ	0.020538	0.00821	N	-1.78244537030426	0.00589	0.02540184	-1.90667830624999	0.00475	0.02103068	0.999999854186245	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.92	-7.84	0.01061	-0.135000	0.10399	-1.679000	0.04930	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1807:0.2545:0.3458:0.219	0.829	0.01054	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1096.98	33	chr3	129062173	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-01;DP=771;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=0.277;SOR=1.101	GT:AD:DP:GQ:PL	0/1:31,36:67:99:1111,0,882	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7,0:38:99:0|1:130421334_G_C:135,0,1259,228,1280,1508:130421334	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7,0:38:99:0|1:130421334_G_C:135,0,1259,228,1280,1508:130421334	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,7,0:38:99:0|1:130421334_G_C:135,228,1508,0,1280,1259,228,1508,1280,1508:130421334	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,7,0:38:99:0|1:130421334_G_C:135,228,1508,0,1280,1259,228,1508,1280,1508:130421334	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,7,0:38:99:0|1:130421334_G_C:135,228,1508,0,1280,1259,228,1508,1280,1508:130421334	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7,0:38:99:0|1:130421334_G_C:135,0,1259,228,1280,1508:130421334	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7,0:38:99:0|1:130421334_G_C:135,0,1259,228,1280,1508:130421334	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,7,0:38:99:0|1:130421334_G_C:135,0,1259,228,1280,1508:130421334	6	0	10	4
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.515	P	0.214	B	0.000	D	0.999	D	0.485	N	0.34	T	-1.034	T	0.088	T	0.14	-0.133	3.349	5.58	2.116	1.120	12.297	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	41.22	34	chr3	133947398	.	T	C	41.22	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.838e+00;DP=1467;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.0725;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.17;ReadPosRankSum=0.287;SOR=10.352	GT:AD:DP:GQ:PL	0/1:55,18:73:27:27,0,1044	18	0	3	0
chr3	146533479	146533479	C	T	exonic	PLSCR1	.	nonsynonymous SNV	PLSCR1:NM_001363872:exon2:c.G64A:p.A22T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.998	D	.	.	0.954	D	0.895	L	2.27	T	-1.054	T	0.088	T	0.279	2.017	12.70	2.67	1.049	0.414	8.899	0.075	0.0094325331685	0.0012	0.000399361	0.0014	0.0005	0.0008	0	0.0005	0.0021	0	0.0006	0.0013195	204	154602	rs41267859	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0003	0.0009	0.0023	0	0.0003	0.0004	0.0022	0.0016	0.0006	0.0012	0.0012	0.0015	0.0009	0.0020	0.0011	0.0010	0.0018	0.0017	0.0005	0	0.0007	0.0023	0	9.452e-05	0	0.0020	0.0009	0.0002	0.125	0.29420	T	0.521	0.17115	T	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.548581	0.37852	D	1.21	0.30464	L	2.23	0.23486	T	-0.54	0.18877	N	0.179	0.24260	-1.0543	0.13225	T	0.088	0.34078	T	9	0.009585679	0.00216	T	0.009433	0.24716	T	0.075	0.21907	.	.	0.436780212511	0.43300	0.28453310670984566	0.28366	0.155488872836	0.17549	0.327294737101	0.14526	T	0.089678	0.38424	T	-0.507863	0.00516	T	-0.509071	0.21410	T	0.0135204284049666	0.00248	T	0.656934	0.27277	T	0.03942368	0.05440	0.07433328	0.16250	0.03942368	0.05440	0.07433328	0.16249	-4.083	0.25039	T	.	.	0.083	0.12512	B	.;.;.;.	.;.;.;.	0.864268	0.12365	8.906	0.99343536175983627	0.60291	0.09430	0.15187	N	AEFBI	0.072883	0.14561	N	-0.164370050700881	0.34626	1.978648	-0.344711960885394	0.26673	1.474818	0.978018461769159	0.29878	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.58	2.67	0.30756	0.258000	0.18156	0.012000	0.13456	0.599000	0.40250	0.127000	0.23295	0.001000	0.17328	0.297000	0.24428	0.0:0.7712:0.2288:0.0	8.899	0.34638	780	0.47616	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	447.98	34	chr3	146533479	.	C	T	447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=1.01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:30,24:54:99:462,0,634	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	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	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,23,0:97:99:0|1:155853644_G_C:155,0,2249,375,2315,2690:155853644	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,23,0:97:99:0|1:155853644_G_C:155,0,2249,375,2315,2690:155853644	6	0	2	4
chr3	184236371	184236371	T	C	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon7:c.T584C:p.I195T	.	.	.	.	.	.	.	.	.	.	.	2367648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.007	B	0.612	N	1.000	N	1.905	M	2.8	T	-1.017	T	0.031	T	0.281	1.592	11.28	1.45	0.354	1.103	8.171	0.065	0.00574901864483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337694929	1.506e-05	1.436e-05	2.119e-05	8.734e-06	0.0004	9.68e-06	8.21e-06	9.131e-05	6.518e-05	0	0.0002	0	0	0	0.0004	9.296e-06	0	2.527e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.054	0.38633	T	0.006	0.70582	D	0.001	0.07471	B	0.007	0.12992	B	0.611585	0.10861	N	0.763914	0.999999	0.08975	N	.	.	.	2.8	0.11082	T	-3.42	0.67241	D	0.319	0.35938	-1.0173	0.24592	T	0.031	0.13504	T	10	0.08947706	0.15504	T	0.005749	0.14922	T	0.065	0.18881	.	.	0.0716867268079	0.06686	0.6679094244911182	0.66728	0.79444620701	0.65975	0.318302154541	0.13163	T	0.073733	0.34768	T	-0.362894	0.03969	T	-0.49462	0.22907	T	0.0860626399517059	0.10744	T	0.659134	0.26825	T	0.24305838	0.47240	0.33125335	0.58986	0.24305838	0.47240	0.33125335	0.58986	-6.457	0.49953	T	.	.	0.102	0.17827	B	.;.	.;.	1.293432	0.16946	12.86	0.9038397965736894	0.19646	0.02714	0.07370	N	AEFDBI	0.084136	0.17050	N	-0.630478915328007	0.18033	0.9330001	-0.648028614369728	0.18266	0.9750513	0.0589459519340923	0.15144	0.403107	0.06075	0	0.547309	0.14657	0	0.056198	0.00348	3	0.562822	0.20929	0	.	.	5.09	1.45	0.21708	1.508000	0.35376	1.873000	0.29400	0.665000	0.62972	0.008000	0.17931	0.025000	0.21018	0.758000	0.36073	0.0:0.2118:0.0:0.7882	8.171	0.30414	884	0.28482	von Willebrand factor, type A;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1309.98	33	chr3	184236371	.	T	C	1309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=889;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-7.300e-02;SOR=0.663	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1324,0,2219	20	0	1	0
chr3	184240010	184240010	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon13:c.G2060A:p.G687E	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.003	B	0.278	N	1.000	N	0.695	N	3.11	T	-0.991	T	0.020	T	0.192	-0.441	1.954	3.04	1.387	1.817	5.483	0.037	0.003542182129	.	0.000199681	0.0007	0	0	0	0	0	0	0.0017	6.47e-05	10	154602	rs553549547	0.0001	9.577e-05	3.534e-05	0.0002	0.0016	8.636e-05	8.154e-05	0.0014	0.0013	0	0	0	0	0	0.0011	4.641e-06	1.729e-05	0.0016	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.00964	T	0.906	0.02996	T	0.003	0.11197	B	0.003	0.08700	B	0.278242	0.14994	N	0.553652	1	0.81001	D	.	.	.	3.11	0.15376	T	0.15	0.05310	N	0.105	0.15328	-0.9912	0.32295	T	0.020	0.08593	T	10	0.008846343	0.00200	T	0.003542	0.08062	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.4314779903202297	0.43064	0.796211368406	0.66052	0.519026637077	0.41489	T	0.010766	0.09688	T	-0.538744	0.00341	T	-0.592197	0.13476	T	0.0301680326296846	0.02016	T	0.656534	0.26618	T	0.042423517	0.06430	0.073265545	0.15901	0.042423517	0.06430	0.073265545	0.15901	-3.404	0.15110	T	.	.	0.094	0.20078	B	.;.	.;.	2.542118	0.32887	19.18	0.77056614838713156	0.11718	0.21009	0.21248	N	AEFDBCI	0.248379	0.36879	N	-0.452705771982135	0.23648	1.271405	-0.265096833274056	0.29256	1.637664	0.797930697821738	0.24134	0.569682	0.32691	0	0.550933	0.16991	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.85	3.04	0.34171	2.692000	0.46685	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.2833:0.0:0.7167:0.0	5.483	0.16026	884	0.28482	.;.	.	.	.	.	.	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	0.02381	605.98	36	chr3	184240010	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=743;ExcessHet=0.0000;FS=3.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-3.810e-01;SOR=1.638	GT:AD:DP:GQ:PL	0/1:18,21:39:99:620,0,458	20	0	1	0
chr3	194341081	194341081	C	A	exonic	CPN2	.	nonsynonymous SNV	CPN2:NM_001080513:exon2:c.G1622T:p.R541L	.	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.001	B	0.299	N	1.000	N	0.205	N	0.56	T	-1.052	T	0.062	T	0.087	1.162	9.731	-11.4	-3.601	-4.824	5.067	0.063	0.00681108974781	0.0015	0.00179712	0.0019	0.0005	0.0025	0	0.0002	0.0019	0.0054	0.0046	0.0015459	239	154602	rs150510546	0.0013	0.0013	0.0011	0.0014	0.0121	0.0012	0.0012	0.0097	0.0088	0.0005	0.0018	0.0004	0	0.0001	0.0121	0.0011	0.0018	0.0040	0.0011	0.0010	0.0010	0.0011	0.0050	0.0009	0.0009	0.0034	0.0029	0.0001	0	0.0015	0.0006	0	0	0.0068	0.0014	0.0033	0.0050	0.276	0.15717	T	0.254	0.23433	T	0.001	0.07471	B	0.001	0.04355	B	0.298552	0.03939	N	1.739800	1	0.08975	N	0.345	0.11182	N	0.56	0.54540	T	0.96	0.01488	N	0.092	0.07125	-1.0525	0.13709	T	0.062	0.25780	T	10	0.0036023557	0.00065	T	0.006811	0.18010	T	0.063	0.18251	.	.	0.388653054685	0.38476	0.3873093252239935	0.38645	0.225813559586	0.25129	0.217184200883	0.01154	T	0.133804	0.46469	T	-0.630927	0.00094	T	-0.681481	0.06894	T	0.0484604067682386	0.05227	T	0.39926	0.10144	T	0.040326152	0.05735	0.06738721	0.13933	0.040326152	0.05735	0.06738721	0.13933	-3.187	0.12322	T	.	.	0.081	0.09917	B	.;.	.;.	-1.873188	0.00134	0.002	0.71189580806832742	0.09545	0.01507	0.04986	N	AEFBI	0.185067	0.31239	N	-2.19234984836467	0.00080	0.003417943	-2.30214911587398	0.00066	0.002882801	0.999999999999937	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.7	-11.4	0.00070	-5.139000	0.00174	-11.910000	0.00565	-1.399000	0.01142	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5269:0.0872:0.0625:0.3235	5.067	0.13925	889	0.27310	.;.	.	.	.	.	.	Likely benign	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	0.02381	968.98	35	chr3	194341081	.	C	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.919;DP=763;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.730e-01;SOR=0.990	GT:AD:DP:GQ:PL	0/1:32,38:70:99:983,0,736	20	0	1	0
chr3	194447922	194447922	A	G	exonic	ATP13A3	.	nonsynonymous SNV	ATP13A3:NM_001374836:exon12:c.T1157C:p.F386S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.515	H	-2.78	D	1.024	D	0.892	D	0.983	4.853	27.7	5.69	2.147	8.660	15.943	0.887	0.316784851064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.985	0.96662	H	-2.78	0.90962	D	-7.9	0.96191	D	0.985	0.99481	1.024	0.97602	D	0.892	0.96418	D	10	0.851599	0.84340	D	0.316785	0.91353	D	0.887	0.96725	0.484	0.56621	0.964892286882	0.96451	0.9622963260560118	0.96215	1.56154988129	0.88046	0.783826172352	0.79505	T	0.768064	0.93770	D	0.511706	0.94636	D	0.497254	0.94557	D	0.999905228614807	0.99629	D	0.89651	0.80969	D	0.9411674	0.95366	0.9455981	0.98128	0.9411674	0.95366	0.9455981	0.98128	-12.395	0.86722	D	.	.	0.994	0.95290	P	.;.;.;.;.	.;.;.;.;.	5.300961	0.88993	29.8	0.99889264843255465	0.96359	0.83454	0.42570	D	AEFBCI	0.897498	0.83974	D	0.976994022004308	0.94993	13.21475	0.909529092398064	0.95975	14.16587	0.999999998623458	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	8.647000	0.90819	11.237000	0.90306	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.943	0.79559	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	544.98	37	chr3	194447922	.	A	G	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=735;ExcessHet=0.0000;FS=1.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.310;SOR=0.639	GT:AD:DP:GQ:PL	0/1:24,25:49:99:559,0,517	20	0	1	0
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,135:168:99:.:.:5448,5547,6867,0,1320,862	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,135:168:99:.:.:5448,5547,6867,0,1320,862	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,135:168:99:.:.:5448,5547,6867,0,1320,862	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,135:168:99:.:.:5448,5547,6867,0,1320,862	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,135:168:99:.:.:5448,5547,6867,0,1320,862	6	0	1	9
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,86,0:321:99:0|1:195781128_A_T:2865,0,9534,3580,9800,13417:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:252,0,69:321:99:0|1:195781128_A_T:2175,2897,12650,0,9753,9545:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:252,0,69:321:99:0|1:195781128_A_T:2175,2897,12650,0,9753,9545:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,64,0:315:99:0|1:195781128_A_T:1976,0,9355,2687,9548,12235:195781128	7	0	12	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:222,142,0:364:99:4902,0,8673,4442,9164,13693	7	0	12	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,62:468:99:0|1:195781522_A_G:1136,0,16585:195781522	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	Likely benign	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	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:406,0,62:468:99:0|1:195781522_A_G:1136,2355,19124,0,16769,16585:195781522	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:406,0,62:468:99:0|1:195781522_A_G:1136,2355,19124,0,16769,16585:195781522	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,56,12:379:99:0|1:195781545_C_*:1326,0,12894,1773,12396,14676:195781545	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:322,11,56:392:99:.:.:1147,1822,17181,0,14851,15131	11	0	2	3
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:234,48,59:341:99:.:.:1589,247,9825,0,7668,10918	6	0	10	3
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,150,0:355:99:0|1:195781545_C_*:3862,0,7903,4654,8414,14114:195781545	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,150,0:355:99:0|1:195781545_C_*:3862,0,7903,4654,8414,14114:195781545	6	1	10	3
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:188,94,60,0:342:99:0|1:195781591_T_*:1772,159,7857,0,5671,9634,2486,8158,8927,11267:195781591	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,94,33:321:99:0|1:195781522_A_G:1594,0,7889,948,6778,10820:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,94,33:321:99:0|1:195781522_A_G:1594,0,7889,948,6778,10820:195781522	7	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:29,94,149:272:99:.:.:7262,4988,6922,943,0,1665	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:4,250,21:275:67:0|1:195781522_A_G:9171,580,67,8492,0,11081:195781522	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,13,249:262:99:1|1:195781591_T_*:9268,8863,10647,673,216,0:195781591	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	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	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,105:143:99:.:.:3268,3382,4956,0,1574,1299	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,105:143:99:.:.:3268,3382,4956,0,1574,1299	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,105:143:99:.:.:3268,3382,4956,0,1574,1299	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,105:143:99:.:.:3268,3382,4956,0,1574,1299	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,105:143:99:.:.:3268,3382,4956,0,1574,1299	6	0	1	1
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,193,0:204:99:1|1:195783084_A_C:7693,230,0,7833,583,8543:195783084	6	2	8	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,208,0:210:99:1|1:195783084_A_C:8661,610,0,8756,660,9114:195783084	3	2	9	5
chr3	195784245	195784245	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2788.17	477	chr3	195784245	.	A	G,*	2788.17	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=1.65;DP=15335;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0010;MLEAC=2,2;MLEAF=0.083,0.083;MQ=58.21;MQRankSum=-1.971e+01;QD=1.31;ReadPosRankSum=2.48;SOR=0.678	GT:AD:DP:GQ:PL	0/2:1068,0,200:1268:99:1598,4808,47358,0,42550,42088	10	0	1	9
chr3	195784260	195784260	C	0	exonic	MUC4	.	.	.	.	.	446	1044	8	0	24	32	0.00381679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2249.06	800	chr3	195784260	.	C	T,*	2249.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=4.87;DP=15677;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1111;MLEAC=1,1;MLEAF=0.031,0.031;MQ=58.04;MQRankSum=-1.876e+01;QD=1.07;ReadPosRankSum=5.00;SOR=0.662	GT:AD:DP:GQ:PL	0/2:1068,0,200:1268:99:1598,4808,47358,0,42550,42088	14	0	1	5
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,640,0:640:99:.:.:20168,1919,0,20168,1919,20168	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,690,0:690:99:.:.:24744,2071,0,24744,2071,24744	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,665,0:666:99:.:.:23298,1986,0,23300,1993,23307	0	15	5	0
chr3	195786730	195786730	A	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T4850G:p.L1617R	.	.	422	1082	17	0	1	18	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.987	D	.	.	1.000	N	0.55	N	0.94	T	-1.031	T	0.110	T	0.145	-0.225	2.912	.	0.077	-0.265	2.841	0.051	.	.	.	0.0101	0.0013	0.0068	0	0.0132	0.0100	0.0159	0.0120	0.0015653	242	154602	rs773515840	0.0008	0.0010	0.0008	0.0009	0.0036	0.0008	0.0008	0.0022	0.0018	0.0003	0.0003	0.0022	0	0.0033	0.0036	0.0007	0.0010	0.0007	0.0025	0.0033	0.0027	0.0024	0.0049	0.0023	0.0022	0.0034	0.0032	0.0005	0	0.0016	0.0047	0	0.0035	0.0035	0.0037	0.0039	0.0049	0.042	0.47745	D	0.097	0.39340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.44065	T	-0.2	0.10136	N	0.205	0.31365	-1.0307	0.20227	T	0.110	0.39723	T	7	0.005106479	0.00110	T	.	.	.	0.051	0.14325	.	.	0.0920862733494	0.08535	0.006603376277569852	0.00628	.	.	0.481438726187	0.36255	T	.	.	.	-0.280231	0.10642	T	-0.640309	0.09647	T	0.00882367733843768	0.00109	T	0.840516	0.51562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49295	B	.;.	.;.	2.219817	0.28328	17.76	0.78396116738620603	0.12283	0.00183	0.01069	N	AEFBI	0.051955	0.09228	N	-0.680219889845733	0.16587	0.8463703	-0.967042621438655	0.10530	0.5309426	2.07341824094782E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.551000	0.02282	-3.923000	0.02450	0.183000	0.17812	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5024:0.497:2.0E-4:3.0E-4	2.841	0.05190	604	0.67577	.;.	.	.	.	.	.	Likely benign	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	0.05263	7616.55	486	chr3	195786730	.	A	C	7616.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.443e+00;DP=9736;ExcessHet=0.1128;FS=0.546;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=58.70;MQRankSum=0.419;QD=4.69;ReadPosRankSum=-2.640e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:471,225:696:99:1|0:195786727_G_A:5270,0,16273:195786727	17	0	2	2
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,7,5:12:99:.:.:504,210,189,294,0,279	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,5,1:9:64:0|1:195787247_T_*:195,0,169,181,64,260:195787247	6	0	1	1
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:6,0,6:12:99:0|1:195787857_T_A:234,252,484,0,232,214:195787857	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	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	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5,0:11:99:0|1:195787858_G_A:192,0,237,210,252,462:195787858	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5,0:11:99:0|1:195787858_G_A:192,0,237,210,252,462:195787858	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11,0:11:33:.:.:495,33,0,495,33,495	4	3	6	6
chr3	195787867	195787867	-	CATC	exonic	MUC4	.	stopgain	MUC4:NM_018406:exon2:c.3712_3713insGATG:p.P1238Rfs*41	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.935e-05	0.0010	4.972e-05	0.0001	0.0002	5.977e-05	5.261e-05	0.0001	8.347e-05	9.055e-05	7.944e-05	0	0.0002	6.932e-05	0	5.024e-05	0.0002	0.0002	0	9.717e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5,0:11:99:0|1:195787858_G_A:192,0,237,210,252,462:195787858	15	0	1	4
chr3	195787867	195787867	G	0	exonic	MUC4	.	.	.	.	.	681	826	12	2	1	17	0.00959233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	179.75	24	chr3	195787867	.	G	GCATC,*	179.75	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.57;DP=317;ExcessHet=0.1190;FS=7.531;InbreedingCoeff=-0.1062;MLEAC=1,1;MLEAF=0.029,0.029;MQ=37.04;MQRankSum=-1.910e-01;QD=5.14;ReadPosRankSum=-1.225e+00;SOR=2.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5,0:11:99:0|1:195787858_G_A:192,0,237,210,252,462:195787858	15	0	1	4
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,9:9:27:1|1:195787857_T_A:382,382,382,27,27,0:195787857	4	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,48,0:89:99:0|1:195788077_G_A:1871,0,1522,1994,1666,3660:195788077	6	0	7	5
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,46,0:134:99:0|1:195788077_G_A:1656,0,3557,1921,3695,5616:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,38,0:184:99:0|1:195788077_G_A:1156,0,6016,1596,6131,7726:195788077	8	0	6	5
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:77,8,0:85:31:31,0,2472,263,2497,2760	12	0	8	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,10,0,0,0,0:25:99:.:.:372,453,924,0,227,295,453,924,227,924,453,924,227,924,924,453,924,227,924,924,924,453,924,227,924,924,924,924	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,10,0,0,0,0:25:99:.:.:372,453,924,0,227,295,453,924,227,924,453,924,227,924,924,453,924,227,924,924,924,453,924,227,924,924,924,924	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,10,0,0,0,0:25:99:.:.:372,453,924,0,227,295,453,924,227,924,453,924,227,924,924,453,924,227,924,924,924,453,924,227,924,924,924,924	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,10,0,0,0,0:25:99:.:.:372,453,924,0,227,295,453,924,227,924,453,924,227,924,924,453,924,227,924,924,924,453,924,227,924,924,924,924	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,10,0,0,0,0:25:99:.:.:372,453,924,0,227,295,453,924,227,924,453,924,227,924,924,453,924,227,924,924,924,453,924,227,924,924,924,924	3	1	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:82,50:132:99:502,0,1536	0	0	21	0
chr4	8291466	8291466	G	A	exonic	HTRA3	.	nonsynonymous SNV	HTRA3:NM_001297559:exon4:c.G805A:p.V269M	.	.	408	1098	16	0	0	16	0.00723327	.	.	2822419	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	U	1.000	D	2.34	M	-2.64	D	0.721	D	0.780	D	0.283	4.161	21.5	4.19	1.911	7.303	16.549	0.731	.	0.0099	0.00439297	0.0082	0.0012	0.0032	0	0.0066	0.0130	0.0135	0.0019	0.0085833	1327	154602	rs111620813	0.0100	0.0100	0.0101	0.0100	0.0106	0.0099	0.0098	0.0105	0.0104	0.0014	0.0057	0.0481	0	0.0083	0.0090	0.0106	0.0111	0.0014	0.0083	0.0083	0.0084	0.0082	0.0112	0.0079	0.0077	0.0105	0.0102	0.0015	0.0241	0.0088	0.0490	0	0.0078	0.0068	0.0112	0.0104	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.36	0.67893	M	-2.64	0.90147	D	-2.73	0.58085	D	0.84	0.83678	0.721	0.93432	D	0.780	0.92512	D	10	0.017561316	0.00376	T	.	.	.	0.731	0.90589	.	.	0.941047437047	0.94043	0.740400631892179	0.73985	0.858628955192	0.68869	0.88312792778	0.94378	D	0.720854	0.92110	D	-0.219818	0.18017	T	-0.078142	0.65041	T	0.0263363693481378	0.01451	T	0.880212	0.59782	D	0.772048	0.82171	0.6876555	0.81628	0.772048	0.82172	0.6876555	0.81629	-10.308	0.79532	D	.	.	0.849	0.82593	P	.;.	.;.	4.707669	0.75589	26.4	0.99896376243441309	0.96895	0.97326	0.74046	D	AEFDBI	0.925113	0.90416	D	0.628621912607215	0.74992	6.227842	0.543227703696764	0.70928	5.577823	0.99999999521474	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	9.302000	0.95261	8.349000	0.77009	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0:0.0:1.0:0.0	16.549	0.84312	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	0.04762	1975.11	34	chr4	8291466	.	G	A	1975.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=835;ExcessHet=0.1072;FS=1.186;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.177e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1094,0,1221	19	0	2	0
chr4	37443522	37443522	A	G	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.A1534G:p.I512V,	.	.	425	1079	16	2	0	20	0.00918274	.	.	709342	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.007	B	.	.	1.000	D	0	N	-1.09	T	-0.860	T	0.184	T	0.22	2.172	13.22	4.9	2.323	3.387	11.671	0.184	.	0.0031	0.00479233	0.0082	0.0018	0.0048	0	0.0037	0.0046	0.0164	0.0158	0.0020375	315	154602	rs142523381	0.0052	0.0050	0.0048	0.0056	0.0176	0.0051	0.0051	0.0169	0.0166	0.0004	0.0040	0.0021	0	0.0027	0.0063	0.0048	0.0054	0.0176	0.0031	0.0031	0.0031	0.0032	0.0156	0.0029	0.0028	0.0127	0.0117	0.0009	0	0.0020	0.0014	0.0002	0.0021	0	0.0044	0.0043	0.0156	0.223	0.18757	T	0.388	0.15602	T	0.004	0.12183	B	0.007	0.12992	B	.	.	.	.	0.999858	0.49910	D	1.24	0.30952	L	-1.09	0.77206	T	-0.67	0.19297	N	0.282	0.31925	-0.8602	0.51249	T	0.184	0.53300	T	9	0.005728036	0.00128	T	.	.	.	0.184	0.45763	.	.	0.148003135375	0.14442	0.3334378922076684	0.33256	.	.	0.442216396332	0.30881	T	0.03827	0.24778	T	-0.414398	0.01859	T	-0.355057	0.38625	T	0.0159306943670325	0.00377	T	0.792821	0.43457	T	0.07329088	0.16366	0.08466118	0.19493	0.07329088	0.16365	0.08466118	0.19492	-4.192	0.26635	T	.	.	0.092	0.13690	B	.	.	2.201175	0.28072	17.68	0.98659946700863277	0.44317	0.85918	0.45108	D	AEBI	0.191013	0.31823	N	-0.35675028507783	0.27025	1.479511	-0.0900062375073974	0.35801	2.075695	0.900204061452854	0.26070	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.06	4.9	0.63643	3.391000	0.52271	7.110000	0.57563	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9316:0.0:0.0684:0.0	11.671	0.50665	934	0.15400	NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1829.98	41	chr4	37443522	.	A	G	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=838;ExcessHet=0.0000;FS=3.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-5.530e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1844,0,1915	20	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	YES	0	1506	16	0	0	16	0.00528402	.	.	31062	GNRHR-related_disorder|Gonadotropin_deficiency|Hypogonadotropic_hypogonadism|Inborn_genetic_diseases|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Isolated_congenital_hypogonadotropic_hypogonadism|not_provided	.|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.992	D	0.000	D	1.000	A	1.055	L	-0.54	T	-0.320	T	0.323	T	0.955	2.437	14.11	6.17	2.371	7.775	14.774	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	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	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	33	chr4	67754019	.	T	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.983e+00;DP=901;ExcessHet=0.0000;FS=6.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.811;SOR=0.469	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2188,0,2441	20	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G,	.	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.977	D	0.000	D	1.000	D	3.515	H	0.11	T	-0.005	T	0.447	T	0.662	2.807	15.35	3.23	1.465	5.405	9.770	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	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	0.09524	3725.92	38	chr4	68945392	.	A	C	3725.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.18;DP=994;ExcessHet=0.6776;FS=0.758;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=0.591;SOR=0.746	GT:AD:DP:GQ:PL	0/1:40,41:81:99:979,0,884	17	0	4	0
chr4	78579081	78579081	G	A	exonic	ANXA3	.	nonsynonymous SNV	ANXA3:NM_005139:exon4:c.G158A:p.R53Q,	.	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.978	D	0.001	D	1.000	D	3.885	H	3.75	T	-0.928	T	0.077	T	0.57	3.137	16.49	3.61	1.504	3.654	11.272	0.215	0.0123753934756	0.0013	0.000399361	0.0014	0.0003	0.0004	0	0.0006	0.0023	0	6.067e-05	0.0013066	202	154602	rs146728751	0.0018	0.0018	0.0019	0.0017	0.0050	0.0017	0.0017	0.0036	0.0031	0.0002	0.0008	0.0046	0	0.0014	0.0050	0.0020	0.0019	0.0002	0.0015	0.0015	0.0016	0.0014	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0009	0.0058	0	0.0016	0.0034	0.0024	0.0019	0	0.001	0.78490	D	0.013	0.79402	D	0.999	0.77913	D	0.978	0.74104	D	0.000537	0.43581	D	0.136023	0.999893	0.50595	D	4.005	0.96783	H	3.75	0.03922	T	-3.45	0.73267	D	0.619	0.63544	-0.9279	0.44444	T	0.077	0.30798	T	10	0.017667234	0.00379	T	0.012375	0.30882	T	0.215	0.50805	.	.	0.580574400314	0.57728	0.8900163800946528	0.88971	0.554809453222	0.52205	0.343256652355	0.16924	T	0.256375	0.62728	T	-0.380628	0.03088	T	-0.324138	0.42119	T	0.123285253386105	0.14747	T	0.991801	0.97673	D	0.92436403	0.93675	0.8403524	0.90861	0.92436403	0.93676	0.8403524	0.90862	-11.623	0.82967	D	.	.	0.56	0.67458	A	.;.;.;.;.;.	.;.;.;.;.;.	4.175347	0.62817	24.5	0.99946160671355	0.99901	0.90413	0.51569	D	AEFBI	0.408327	0.48005	N	0.641288225760987	0.75806	6.371536	0.479600356199018	0.66638	4.978411	0.999498450890488	0.40007	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.36	3.61	0.40494	3.113000	0.50069	9.402000	0.80650	0.618000	0.50648	0.948000	0.32982	1.000000	0.68203	0.207000	0.22098	0.1542:0.0:0.8458:0.0	11.272	0.48377	848	0.35897	Annexin repeat, conserved site;.;.;Annexin repeat, conserved site;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	33	chr4	78579081	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=746;ExcessHet=0.0000;FS=2.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-2.397e+00;SOR=0.985	GT:AD:DP:GQ:PL	0/1:39,28:67:99:627,0,924	20	0	1	0
chr4	87614674	87614674	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2012A:p.S671N,	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	.	838	678	6	0	0	6	0.00440529	.	.	981478	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.97	D	0.696	P	.	.	0.950	N	1.385	L	-2.29	D	-0.315	T	0.575	D	0.121	-0.301	2.566	2.54	1.385	0.525	11.287	0.223	.	.	0.00419329	0.0046	0.0013	0.0024	0	0	0.0096	0	0.0005	0.0013325	206	154602	rs200839637	0.0097	0.0094	0.0099	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0017	0.0091	0.0023	5.639e-05	0.0054	0.0083	0.0114	0.0087	0.0011	0.0075	0.0076	0.0080	0.0070	0.0122	0.0072	0.0070	0.0115	0.0112	0.0020	0	0.0115	0.0017	0	0.0035	0	0.0122	0.0047	0.0006	.	.	.	0.02	0.58613	D	0.97	0.56973	D	0.696	0.54017	P	.	.	.	.	0.949938	0.26521	N	0	0.06538	N	-2.29	0.87591	D	-0.62	0.18248	N	0.151	0.15469	-0.3154	0.74551	T	0.575	0.84639	D	9	0.0046225786	0.00096	T	.	.	.	0.223	0.52023	.	.	0.695313823607	0.69269	4.7231894002254537E-4	0.00043	.	.	.	.	.	0.077034	0.35561	T	-0.445753	0.01196	T	-0.402682	0.33073	T	0.024889325772433	0.01258	T	0.289271	0.05243	T	0.21238178	0.43588	0.23768647	0.49073	0.21238178	0.43588	0.23768647	0.49071	-6.484	0.50163	T	.	.	.	.	.	.	.	1.327723	0.17323	13.10	0.54694675023959471	0.05189	0.16020	0.19193	N	AEFGBCI	0.066007	0.12904	N	-0.299982378011202	0.29150	1.613941	-0.44165611348653	0.23787	1.299006	0.411513737354503	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	2.54	2.54	0.29674	0.290000	0.18731	3.319000	0.37529	0.292000	0.18798	0.001000	0.13787	0.476000	0.25077	0.082000	0.17360	0.0:0.0:1.0:0.0	11.287	0.48462	500	0.76024	.	.	.	.	.	.	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	0.02381	896.98	39	chr4	87614674	.	G	A	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.693e+00;DP=1053;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.239;SOR=0.723	GT:AD:DP:GQ:PL	0/1:37,47:84:99:911,0,1084	20	0	1	0
chr4	87615398	87615398	T	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	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:24,18,0:42:99:452,0,870,524,924,1448	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:2,0,51:53:99:.:.:2148,2154,2196,113,155,0	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:2,0,51:53:99:.:.:2148,2154,2196,113,155,0	0	2	2	0
chr4	87615936	87615936	A	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	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18,0:18:54:1|1:87615911_A_C:770,54,0,770,54,770:87615911	0	3	4	9
chr4	87615956	87615956	T	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11,0:11:33:1|1:87615911_A_C:495,33,0,495,33,495:87615911	0	3	5	9
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8,0:8:24:1|1:87615911_A_C:360,24,0,360,24,360:87615911	1	4	4	8
chr4	87615971	87615971	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	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5,0:5:15:1|1:87615911_A_C:225,15,0,225,15,225:87615911	0	3	5	9
chr4	87616007	87616007	T	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	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1,0:1:3:1|1:87615911_A_C:45,3,0,45,3,45:87615911	15	2	0	0
chr4	99307859	99307859	C	T	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon9:c.G1109A:p.R370H	.	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.944	D	0.000	D	1.000	D	3.99	H	3.38	T	-0.920	T	0.063	T	0.414	3.939	20.1	3.08	1.641	4.361	10.315	0.218	0.0231445045486	0.0041	0.00259585	0.0032	0.0037	0.0015	0.0007	0.0002	0.0037	0.0077	0.0042	0.0029624	458	154602	rs75967634	0.0031	0.0031	0.0029	0.0033	0.0049	0.0030	0.0030	0.0045	0.0043	0.0032	0.0011	0.0011	0.0006	0.0006	0.0049	0.0033	0.0026	0.0048	0.0032	0.0032	0.0033	0.0032	0.0044	0.0030	0.0029	0.0038	0.0036	0.0034	0.0033	0.0012	0.0006	0.0008	0.0010	0	0.0042	0.0024	0.0044	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000034	0.55875	D	0.068332	1	0.81001	D	.	.	.	3.38	0.05778	T	-4.29	0.76414	D	0.362	0.69825	-0.9198	0.45581	T	0.063	0.26314	T	10	0.014936537	0.00314	T	0.023145	0.46094	T	0.218	0.51265	.	.	0.491248951702	0.48758	0.7890051812966327	0.78852	0.783653125193	0.65405	0.413478672504	0.26938	T	0.09467	0.39463	T	-0.408097	0.02047	T	-0.358987	0.38171	T	0.102206649897578	0.12598	T	0.89971	0.64861	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.75992	P	.;.;.;.	.;.;.;.	4.038986	0.59786	24.1	0.99854316575898061	0.93368	0.95068	0.63321	D	AEFI	0.877816	0.80268	D	0.423228588699053	0.62703	4.490509	0.189106407762688	0.49249	3.130397	0.00271159252284801	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.824000	0.62391	2.694000	0.34110	0.520000	0.23804	1.000000	0.71638	0.993000	0.31925	0.045000	0.14751	0.0:1.0:0.0:0.0	10.315	0.42911	622	0.65860	Polyketide synthase, enoylreductase domain;.;.;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3045.98	40	chr4	99307859	.	C	T	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=976;ExcessHet=0.0000;FS=0.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.976;SOR=0.611	GT:AD:DP:GQ:PL	0/1:140,131:271:99:3060,0,3333	20	0	1	0
chr4	99652058	99652058	C	G	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2591C:p.R864T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	0.895	L	0.57	T	-0.576	T	0.191	T	0.395	3.061	16.22	4.47	2.310	6.635	17.332	0.133	0.176392343732	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs568216375	8.672e-06	8.209e-06	8.56e-06	8.787e-06	0.0002	4.62e-06	3.65e-06	5.45e-05	3.559e-05	0	0	0	0.0001	0	0.0002	9.269e-07	6.908e-05	1.262e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.0	0.91255	D	0.562	0.09052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-1.01	0.26639	N	0.626	0.64052	-0.5759	0.65780	T	0.191	0.54315	T	6	0.40609443	0.55903	T	0.176392	0.85217	D	0.133	0.36157	0.218	0.13932	0.518254980372	0.51468	0.4925434668243248	0.49175	.	.	.	.	.	0.069277	0.33668	T	-0.0527624	0.44026	T	-0.313566	0.43274	T	0.725982468824248	0.42003	D	0.634537	0.24876	T	0.355565	0.57497	0.34902453	0.60533	0.355565	0.57497	0.34902453	0.60533	-6.484	0.50163	T	.	.	0.759	0.75438	P	.	.	4.256619	0.64649	24.7	0.97361541884013081	0.33573	0.99323	0.94492	D	AEFDBI	0.795508	0.72290	D	0.260739819583018	0.54173	3.583487	0.304591408394096	0.55809	3.743729	0.999999999810996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.47	4.47	0.53770	3.777000	0.55071	4.661000	0.44237	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.355000	0.25773	0.0:1.0:0.0:0.0	17.332	0.87157	926	0.17793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1522.98	35	chr4	99652058	.	C	G	1522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.899e+00;DP=1306;ExcessHet=0.0000;FS=0.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-2.860e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1537,0,2109	20	0	1	0
chr4	102634907	102634907	G	A	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon16:c.C2296T:p.R766W,	Mannosidosis, beta, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	291854	Beta-D-mannosidosis|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009562,MedGen:C4048196,OMIM:248510,Orphanet:118|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.999	D	2.785	M	-0.51	T	0.217	D	0.552	D	0.956	3.105	16.37	2.16	0.427	1.902	15.394	0.533	0.124544311761	0.0003	0.000199681	0.0003	0.0005	0.0002	0	0	0.0005	0	0	0.0002781	43	154602	rs147428514	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	9.415e-05	0.0006	0.0004	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0012	0.0001	0.0003	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0.0002	0	0	0	0	0.0002	0.0009	0	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.965	0.86255	D	0.000000	0.84330	D	0.000000	0.995607	0.45122	D	3.355	0.91145	M	-0.51	0.70597	T	-5.12	0.83157	D	0.916	0.92667	0.217	0.86196	D	0.552	0.83616	D	10	0.7362776	0.74643	D	0.124544	0.80592	D	0.533	0.80367	.	.	0.720089310777	0.71761	0.6554703107100668	0.65483	0.443486916412	0.44272	0.498697578907	0.38646	T	0.790166	0.94541	D	0.108927	0.65240	D	0.232948	0.84813	D	0.8449387550354	0.49735	D	0.953205	0.83962	D	0.36352092	0.58102	0.28924838	0.54944	0.36352092	0.58103	0.28924838	0.54943	-9.659	0.71845	D	0.8075268823737142	0.88311	0.278	0.51174	B	.;.;.;.;.	.;.;.;.;.	4.419521	0.68443	25.2	0.99778411737452199	0.86519	0.86489	0.45780	D	AEFBI	0.540676	0.55714	D	0.17838079553596	0.50162	3.208901	-0.034381710879648	0.38173	2.245276	0.877093896365432	0.25539	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.3	2.16	0.26663	1.925000	0.39705	4.347000	0.43075	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.3928:0.6072	15.394	0.74501	957	0.09725	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2619.98	39	chr4	102634907	.	G	A	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=964;ExcessHet=0.0000;FS=3.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-8.980e-01;SOR=0.991	GT:AD:DP:GQ:PL	0/1:74,100:174:99:2634,0,1632	20	0	1	0
chr4	109870407	109870407	G	T	exonic	LRIT3	.	nonsynonymous SNV	LRIT3:NM_198506:exon4:c.G1658T:p.C553F,	Night blindness, congenital stationary (complete), 1F, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	943742	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.35	M	1.61	T	-0.633	T	0.219	T	0.979	4.469	23.9	5.16	2.398	9.378	18.660	0.656	0.0814854432084	.	0.000199681	4.945e-05	0	0	0.0007	0	0	0	0	4.53e-05	7	154602	rs551139098	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0007	1.328e-05	1.144e-05	0.0005	0.0004	0	0	0	0.0007	0	0	8.993e-07	1.656e-05	0	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.61	0.28391	T	-9.51	0.98460	D	0.811	0.83167	-0.6335	0.63422	T	0.219	0.58189	T	10	0.72051966	0.73631	D	0.081485	0.73691	D	0.656	0.87085	.	.	0.48896698758	0.48531	0.7950547003391227	0.79458	0.300025700996	0.32365	0.561561703682	0.47488	T	0.253365	0.62388	T	-0.002715	0.51281	T	0.14921	0.80133	D	0.98773604631424	0.78174	D	0.776522	0.41780	T	0.6983099	0.77964	0.66689056	0.80465	0.6983099	0.77966	0.66689056	0.80466	-16.731	0.98664	D	.	.	0.685	0.72360	P	.;.	.;.	5.155057	0.86359	28.9	0.9911974924637954	0.52958	0.99514	0.96941	D	AEFI	0.943365	0.94912	D	0.889006625753088	0.91210	10.76977	0.852937110123984	0.93187	11.87923	0.999999606249554	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	9.503000	0.96975	11.678000	0.94186	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.660	0.91427	809	0.43032	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2124.98	46	chr4	109870407	.	G	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=964;ExcessHet=0.0000;FS=1.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-7.060e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2139,0,2057	20	0	1	0
chr4	109913381	109913381	A	C	exonic	EGF	.	nonsynonymous SNV	EGF:NM_001178130:exon1:c.A46C:p.S16R	Hypomagnesemia 4, renal	.	0	1518	4	0	0	4	0.00131579	.	.	296718	not_provided|Renal_hypomagnesemia_4	MedGen:C3661900|MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.958	D	0.483	P	0.924	N	1.000	N	1.95	M	-1.98	D	-0.332	T	0.392	T	0.388	2.162	13.18	-5.45	-0.941	0.384	4.644	0.403	.	0.0002	0.00499201	0.0040	0.0002	0	0.0262	0.0257	0.0012	0.0100	0	0.003454	534	154602	rs11568849	0.0018	0.0018	0.0019	0.0017	0.0277	0.0017	0.0017	0.0263	0.0258	0.0001	4.475e-05	0.0005	0.0277	0.0230	0.0003	0.0001	0.0016	8.115e-05	0.0032	0.0032	0.0020	0.0045	0.0257	0.0030	0.0029	0.0221	0.0208	0.0002	0	0.0001	0.0006	0.0257	0.0276	0	0.0007	0.0019	0.0002	0.015	0.55530	D	0.061	0.45530	T	0.958	0.54977	D	0.483	0.47159	P	0.923541	0.07491	N	1.031290	1	0.08975	N	2.125	0.59049	M	-2.4	0.88455	D	-1.94	0.45222	N	0.234	0.42247	-0.3315	0.74090	T	0.392	0.74546	T	10	0.0047091246	0.00099	T	.	.	.	0.403	0.71636	0.571	0.69431	0.864559840526	0.86324	0.4843813884689565	0.48358	0.584107567837	0.54097	0.29645305872	0.09874	T	0.48488	0.81201	T	-0.325441	0.06462	T	-0.219978	0.52739	T	0.0177113371884191	0.00502	T	0.785921	0.42389	T	0.12246675	0.28777	0.09459789	0.22398	0.1449291	0.33244	0.07587441	0.16747	-5.066	0.37548	T	.	.	0.426	0.62212	A	.;.;.	.;.;.	0.573167	0.09416	6.196	0.92642156612491477	0.22116	0.10276	0.15827	N	AEFDBCIJ	0.103925	0.20808	N	-0.81727621626747	0.12868	0.6301164	-1.0591138308805	0.08517	0.4191907	0.999998456995477	0.74766	0.497415	0.19182	0	0.491513	0.07743	0	0.654281	0.52657	0	0.542086	0.14980	0	.	.	5.09	-5.45	0.02411	0.423000	0.21032	0.351000	0.17477	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.025000	0.12405	0.3045:0.0:0.3513:0.3442	4.644	0.11949	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	903.98	35	chr4	109913381	.	A	C	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e+00;DP=795;ExcessHet=0.0000;FS=2.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.603;SOR=0.686	GT:AD:DP:GQ:PL	0/1:47,41:88:99:918,0,1259	20	0	1	0
chr4	113353858	113353858	C	G	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C5240G:p.P1747R,	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	258341	not_provided|Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_specified	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.878	P	0.424	B	0.039	N	0.918	N	1.87	L	-0.23	T	-0.615	T	0.264	T	0.239	1.322	10.33	5.7	2.683	1.322	12.634	0.140	0.0215633166082	.	0.000199681	0.0002	0	0.0020	0	0	7.558e-05	0.0011	6.081e-05	0.0002005	31	154602	rs200628845	0.0001	0.0001	0.0001	0.0001	0.0017	9.335e-05	8.818e-05	0.0014	0.0013	0	0.0017	0.0007	0	0	0.0002	4.047e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0012	0.0011	0	0	0.0018	0	0	0	0	2.94e-05	0.0005	0	0.006	0.61437	D	0.198	0.27767	T	.	.	.	.	.	.	0.039322	0.24182	N	0.348043	1	0.27360	N	1.905	0.50856	L	-0.23	0.66834	T	-2.32	0.51478	N	0.126	0.14480	-0.6151	0.64192	T	0.264	0.63534	T	9	0.010430962	0.00232	T	0.021563	0.44345	T	0.140	0.37593	.	.	0.462418993973	0.45867	0.05522447846544846	0.05463	0.184026296614	0.20700	0.302124679089	0.10718	T	0.38973	0.75008	T	-0.405801	0.02120	T	-0.380309	0.35687	T	0.0496480958751536	0.05439	T	0.852615	0.53799	D	0.10066825	0.23771	0.15748623	0.36822	0.10066825	0.23771	0.15748623	0.36822	-4.931	0.36082	T	0.6127210455026947	0.68044	0.16	0.35372	B	.;.	.;.	3.270452	0.44761	22.0	0.97928640310640747	0.36942	0.23166	0.21987	N	AEFBI	0.269277	0.38559	N	0.0039700780187214	0.42034	2.525247	-0.0184779111414744	0.38881	2.29712	0.999981308195428	0.51787	0.562547	0.31514	0	0.491513	0.07743	0	0.608884	0.39905	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	1.043000	0.29926	6.000000	0.52472	0.599000	0.40250	0.000000	0.06391	0.821000	0.27127	0.980000	0.58198	0.1289:0.7466:0.1245:0.0	12.634	0.56035	648	0.63242	.;.	.	.	.	.	.	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	0.02381	2118.98	34	chr4	113353858	.	C	G	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=961;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-8.900e-02;SOR=0.990	GT:AD:DP:GQ:PL	0/1:70,82:152:99:2133,0,1807	20	0	1	0
chr4	122743906	122743906	G	A	exonic	BBS12	.	nonsynonymous SNV	BBS12:NM_152618:exon2:c.G2014A:p.A672T	Bardet-Biedl syndrome 12, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	683621	Bardet-Biedl_syndrome_12|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	1.0	D	1.0	D	0.000	D	1.000	D	2.295	M	-0.62	T	-0.020	T	0.554	D	0.82	5.308	34	5.91	2.793	8.766	20.299	0.569	0.0482037783086	7.7e-05	0.000798722	0.0012	0	8.648e-05	0	0	0.0001	0.0022	0.0091	0.0010414	161	154602	rs140895713	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0005	0.0081	0.0079	0	2.299e-05	0	0	0	0.0024	6.046e-05	0.0007	0.0086	0.0003	0.0003	0.0001	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0066	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	2.785	0.81254	M	-0.62	0.71895	T	-2.69	0.57435	D	0.811	0.80669	-0.0197	0.81845	T	0.554	0.83714	D	10	0.018981725	0.00419	T	0.048204	0.63269	D	0.569	0.82460	.	.	0.885391180531	0.88426	0.6774444198983406	0.67683	0.457058569676	0.45352	0.500383377075	0.38882	T	0.386616	0.74774	T	-0.0648053	0.42154	T	0.139967	0.79542	D	0.140191160512219	0.16292	T	0.807619	0.45757	T	0.6702086	0.76444	0.6674952	0.80499	0.6690924	0.76385	0.6767098	0.81015	-8.019	0.61199	D	0.9670926834415642	0.98958	0.292	0.52712	B	.;.	.;.	4.704194	0.75506	26.3	0.9994709427655859	0.99913	0.99088	0.91048	D	AEFBI	0.868321	0.78839	D	0.90273562238733	0.91893	11.12072	0.897381362830219	0.95458	13.64052	0.999999999999998	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.91	5.91	0.95240	8.990000	0.93072	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.299	0.98594	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1461.98	33	chr4	122743906	.	G	A	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.259;DP=901;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.81;SOR=0.744	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1476,0,1700	20	0	1	0
chr4	122927693	122927693	A	G	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001317799:exon2:c.A220G:p.M74V	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	631917	Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.99	D	0.979	D	0.000	D	0.998	D	1.185	L	-1.76	D	0.232	D	0.581	D	0.751	3.579	18.24	4.38	1.992	7.210	12.66	0.735	0.0839197821799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311055750	2.053e-06	2.052e-06	4.086e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.009	0.66756	D	0.982	0.60036	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.997863	0.44266	D	.	.	.	-1.76	0.83578	D	-1.89	0.44094	N	0.683	0.68950	0.232	0.86443	D	0.581	0.84933	D	10	0.7550568	0.75920	D	0.08392	0.74217	D	0.735	0.90764	0.523	0.62668	0.917826350143	0.91699	0.7289398399414698	0.72837	0.366881939327	0.38250	0.471251100302	0.34853	T	0.039895	0.25345	T	0.245506	0.78179	D	0.114876	0.77896	D	0.978622496128082	0.72419	D	0.861114	0.55479	D	0.7053616	0.78351	0.76279837	0.85986	0.7053616	0.78352	0.76279837	0.85987	-8.124	0.61912	D	.	.	0.284	0.51686	B	.	.	4.020819	0.59386	24.1	0.99308998380676783	0.58943	0.98613	0.84704	D	AEFBI	0.765780	0.70216	D	0.595678882717445	0.72903	5.879732	0.58207538019271	0.73655	6.006202	0.999999985751549	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	4.38	4.38	0.52019	7.193000	0.77307	7.650000	0.63651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.66	0.56172	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	37	chr4	122927693	.	A	G	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=788;ExcessHet=0.0000;FS=11.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=0.498;SOR=1.583	GT:AD:DP:GQ:PL	0/1:56,40:96:99:886,0,1359	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,78,0:78:99:3472,235,0,3472,235,3472	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,78,0:78:99:3472,235,0,3472,235,3472	0	20	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,22:79:99:0|1:140563137_C_G:176,0,1730:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,22:79:99:0|1:140563137_C_G:176,0,1730:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,143,0:143:99:.:.:4754,429,0,4754,429,4754	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,60,0,0,0:61:99:2351,138,0,2354,179,2395,2354,179,2395,2395,2354,179,2395,2395,2395	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,60,0,0,0:61:99:2351,138,0,2354,179,2395,2354,179,2395,2395,2354,179,2395,2395,2395	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,60,0,0,0:61:99:2351,138,0,2354,179,2395,2354,179,2395,2395,2354,179,2395,2395,2395	0	10	4	0
chr4	150852576	150852576	G	A	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon23:c.C3134T:p.A1045V	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1463990	Combined_immunodeficiency_due_to_LRBA_deficiency	MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.724	N	1.000	N	0.55	N	1.08	T	-1.050	T	0.083	T	0.133	0.456	6.477	2.87	1.524	0.398	3.253	0.086	0.0119894247133	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs779195284	7.526e-06	7.524e-06	2.723e-06	1.238e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	1.313e-05	1.312e-05	0	2.685e-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	0.206	0.20759	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.723919	0.09911	N	0.874861	1	0.08975	N	0.695	0.17993	N	1.08	0.55439	T	-0.94	0.25551	N	0.049	0.02272	-1.0497	0.14481	T	0.083	0.32470	T	10	0.0502958	0.04741	T	0.011989	0.30154	T	0.086	0.25016	0.157	0.06070	0.369682402691	0.36581	0.1941193110858232	0.19329	0.114562253734	0.12917	0.193006560206	0.00283	T	0.017764	0.14435	T	-0.412824	0.01904	T	-0.57109	0.15349	T	0.0284736672102037	0.01757	T	0.654634	0.26482	T	0.023715004	0.01135	0.0357198	0.02878	0.023715004	0.01135	0.0357198	0.02878	-3.209	0.12640	T	0.10518970017499224	0.08311	0.076	0.14247	B	.;.;.	.;.;.	0.778707	0.11490	8.090	0.97148143244268359	0.32573	0.08520	0.14438	N	AEFDGBI	0.052384	0.09344	N	-0.659855519076932	0.17174	0.8814787	-0.575433525963395	0.20135	1.083414	0.992704654476209	0.32938	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.602482	0.37289	1	.	.	5.69	2.87	0.32523	0.156000	0.16200	2.028000	0.30240	0.676000	0.76740	0.000000	0.06391	0.026000	0.21063	0.632000	0.32210	0.1524:0.1159:0.5363:0.1954	3.253	0.06418	874	0.30607	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2292.98	34	chr4	150852576	.	G	A	2292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.000e-03;DP=875;ExcessHet=0.0000;FS=3.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-2.500e-02;SOR=0.638	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2307,0,2140	20	0	1	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:42,39:81:99:959,0,913	16	0	5	0
chr4	155722150	155722150	G	A	exonic	GUCY1A1	.	nonsynonymous SNV	GUCY1A1:NM_001130684:exon8:c.G1829A:p.C610Y	.	.	.	.	.	.	.	.	.	.	.	2188620	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.992	D	0.892	P	0.000	D	1.000	D	0.805	L	-1.42	T	-0.227	T	0.500	D	0.888	4.587	25.0	5.62	2.647	9.869	19.654	0.696	0.0840132406053	0.0005	.	0.0003	9.612e-05	8.669e-05	0	0.0002	0.0004	0	0.0003	0.0003234	50	154602	rs201913028	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	8.974e-05	0.0002	0	0	7.489e-05	0	0.0006	0.0003	0.0003	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0	0	0	0.0003	0.0032	0.0006	0.0005	0.0004	0.034	0.44029	D	0.507	0.25438	T	0.992	0.64738	D	0.892	0.63276	P	0.000003	0.62929	D	0.000000	1	0.81001	D	.	.	.	-1.42	0.80645	T	-1.92	0.50992	N	0.827	0.86511	-0.2271	0.76963	T	0.500	0.81120	D	10	0.54244393	0.63796	D	0.084013	0.74236	D	0.696	0.89007	.	.	0.954707308441	0.95422	0.9164316203552745	0.91618	0.552000415259	0.52022	0.853103339672	0.90082	D	0.224446	0.58889	T	0.0789006	0.61912	D	0.240858	0.85188	D	0.0844153463840485	0.10542	T	0.90081	0.70348	D	0.48779836	0.66371	0.63715625	0.78812	0.48779836	0.66372	0.63715625	0.78813	-7.282	0.56067	T	0.27660573507660124	0.37121	0.233	0.51139	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.630352	0.73614	26.0	0.99800048628625182	0.88461	0.99214	0.92914	D	AEFBI	0.977216	0.99712	D	0.640063827288165	0.75728	6.357396	0.705307407055248	0.82781	7.85303	0.999999999999967	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	10.003000	0.99689	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.654	0.95824	558	0.71484	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;.;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1691.98	43	chr4	155722150	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.210e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.47;SOR=0.687	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1706,0,2036	20	0	1	0
chr4	165041118	165041118	G	A	exonic	TRIM60	.	nonsynonymous SNV	TRIM60:NM_152620:exon3:c.G1046A:p.R349Q	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	U	1.000	N	2.14	M	-0.5	T	-0.576	T	0.441	T	0.408	2.941	15.80	1.64	0.607	3.638	7.390	0.275	0.010229271144	0.0014	0.000399361	0.0011	0.0005	0.0006	0	0	0.0017	0.0022	0.0004	0.0010349	160	154602	rs148636261	0.0013	0.0013	0.0012	0.0013	0.0028	0.0012	0.0012	0.0017	0.0014	0.0003	0.0005	0.0073	0	3.744e-05	0.0028	0.0014	0.0012	0.0002	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0003	0	0.0003	0.0072	0	9.42e-05	0	0.0015	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000764	0.41888	U	0.000000	1	0.08975	N	2.735	0.79925	M	-0.5	0.70480	T	-3.83	0.72120	D	0.27	0.31365	-0.5764	0.65760	T	0.441	0.77915	T	10	0.01705432	0.00362	T	0.010229	0.26522	T	0.275	0.59130	.	.	0.682399439722	0.67969	0.14601736312617686	0.14523	0.293245057848	0.31747	0.43987184763	0.30558	T	0.154913	0.49641	T	-0.298052	0.08844	T	-0.230987	0.51678	T	0.0648823815176911	0.07914	T	0.786621	0.42528	T	0.48437026	0.66164	0.3826736	0.63248	0.48437026	0.66165	0.3826736	0.63248	-7.236	0.55739	T	.	.	0.288	0.52010	B	.;.;.;.	.;.;.;.	3.029861	0.40581	21.2	0.99736941757356723	0.83192	0.37174	0.25702	N	AEFBI	0.158287	0.28392	N	-0.162315962413317	0.34711	1.984671	-0.42242944969685	0.24340	1.332336	0.0014323904647785	0.08535	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.49	1.64	0.22949	2.827000	0.47813	4.377000	0.43168	-0.185000	0.09859	0.135000	0.23427	0.817000	0.27092	0.513000	0.29313	0.1423:0.0:0.8577:0.0	7.390	0.26076	969	0.06854	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM60, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1899.98	33	chr4	165041118	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=850;ExcessHet=0.0000;FS=2.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=1.08;SOR=0.908	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1914,0,1861	20	0	1	0
chr4	173314153	173314153	C	A	exonic	GALNT7	.	nonsynonymous SNV	GALNT7:NM_001375601:exon6:c.C1204A:p.P402T	.	.	429	1066	26	1	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.932	P	0.472	P	0.000	U	1.000	D	2.275	M	-1.14	T	-0.382	T	0.334	T	0.81	4.767	26.7	5.6	2.635	6.079	19.605	0.185	0.0424557106276	0.0020	0.00139776	0.0026	0.0009	0.0053	0	0.0012	0.0028	0.0044	0.0029	0.0025744	398	154602	rs144873913	0.0025	0.0025	0.0024	0.0025	0.0125	0.0024	0.0024	0.0102	0.0093	0.0006	0.0035	0.0033	0	0.0020	0.0125	0.0024	0.0030	0.0031	0.0023	0.0023	0.0024	0.0022	0.0029	0.0021	0.0020	0.0026	0.0025	0.0006	0.0417	0.0027	0.0026	0	0.0013	0.0204	0.0029	0.0043	0.0021	0.003	0.68238	D	0.116	0.36497	T	0.932	0.51990	P	0.472	0.46817	P	0.000002	0.62929	U	0.000000	1	0.81001	D	2.565	0.75005	M	-1.14	0.77843	T	-6.37	0.91058	D	0.649	0.66016	-0.3823	0.72580	T	0.334	0.70076	T	10	0.012086481	0.00261	T	0.042456	0.60473	D	0.552	0.81485	.	.	0.910025004601	0.90912	0.628387726119353	0.62771	1.05970399513	0.76441	0.590584754944	0.51576	T	0.122745	0.44663	T	-0.0765548	0.40274	T	0.121263	0.78317	D	0.0585426611486209	0.06937	T	0.953005	0.82069	D	0.73707664	0.80125	0.50029296	0.71110	0.73707664	0.80127	0.50029296	0.71110	-7.207	0.55532	T	.	.	0.208	0.43435	B	.	.	4.037918	0.59763	24.1	0.99769056150810109	0.85750	0.98353	0.81919	D	AEFBI	0.751586	0.69235	D	0.514766814019681	0.67962	5.152233	0.577936793563378	0.73361	5.957862	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	6.159000	0.71664	4.031000	0.41338	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	19.605	0.95572	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	0.02381	480.98	35	chr4	173314153	.	C	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.595;DP=770;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.52;ReadPosRankSum=0.742;SOR=0.512	GT:AD:DP:GQ:PL	0/1:42,22:64:99:495,0,1069	20	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,15:74:92:0|1:176711631_G_C:92,0,1589:176711631	6	0	11	4
chr4	183284277	183284277	C	T	exonic	WWC2	.	nonsynonymous SNV	WWC2:NM_024949:exon19:c.C2935T:p.R979C,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.81	M	0.16	T	-0.068	T	0.374	T	0.921	3.630	18.46	5.02	2.607	2.615	18.537	0.370	.	0.0056	0.00299521	0.0038	0.0019	0.0050	0.0001	0.0015	0.0050	0.0055	0.0016	0.0041397	640	154602	rs45470696	0.0059	0.0059	0.0061	0.0058	0.0071	0.0058	0.0058	0.0069	0.0069	0.0007	0.0037	0.0013	2.519e-05	0.0018	0.0010	0.0071	0.0053	0.0019	0.0039	0.0039	0.0042	0.0035	0.0069	0.0036	0.0035	0.0064	0.0062	0.0014	0.0011	0.0018	0.0009	0	0.0012	0	0.0069	0.0043	0.0019	0.02	0.49613	D	0.015	0.70582	D	0.036	0.90584	B	0.009	0.97372	B	0.000003	0.62929	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.16	0.60610	T	-3.94	0.79743	D	0.711	0.71765	-0.0676	0.80832	T	0.374	0.73242	T	10	0.010034293	0.00225	T	.	.	.	0.370	0.68930	.	.	0.646674526982	0.64375	0.473353654239015	0.47254	0.0374402184528	0.03967	0.527586698532	0.42694	T	0.191139	0.54588	T	-0.0451608	0.45178	T	0.169318	0.81369	D	0.041765206130299	0.04011	T	0.846715	0.55187	T	0.29202786	0.52181	0.20193098	0.44197	0.29202786	0.52180	0.20193098	0.44196	-7.445	0.57933	T	.	.	0.168	0.36947	B	.;.;.;.;.	.;.;.;.;.	4.131474	0.61826	24.4	0.99830634558388909	0.91198	0.96740	0.70685	D	AEFGBI	0.738303	0.68322	D	0.463519525745586	0.64974	4.764554	0.477470166128155	0.66499	4.960144	0.999999999996464	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.799000	0.47586	4.584000	0.43931	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	18.537	0.90966	968	0.07033	.;.;.;.;.	.	.	.	.	.	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	0.04762	2800.11	41	chr4	183284277	.	C	T	2800.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=887;ExcessHet=0.1072;FS=3.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.170;SOR=0.926	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1288,0,1438	19	0	2	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	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	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:81,15:96:96:96,0,2210	12	0	9	0
chr5	34868920	34868920	G	A	exonic	TTC23L	.	nonsynonymous SNV	TTC23L:NM_001317949:exon8:c.G883A:p.V295I	.	.	426	1084	11	1	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.875	P	0.386	N	0.999	N	2.175	M	2.57	T	-1.104	T	0.079	T	0.085	3.072	16.26	3.1	0.760	2.033	4.288	0.095	.	8.2e-05	0.00219649	0.0020	0	0.0007	0	0	0.0005	0.0036	0.0109	0.0010867	168	154602	rs148933690	0.0006	0.0006	0.0004	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	2.992e-05	0.0003	0	2.528e-05	0	0.0043	7.663e-05	0.0010	0.0077	0.0005	0.0005	0.0004	0.0006	0.0068	0.0004	0.0004	0.0050	0.0044	2.407e-05	0	0.0020	0	0	0	0	0.0001	0.0024	0.0068	0.301	0.14449	T	0.057	0.46406	T	0.994	0.66517	D	0.875	0.62107	P	0.386136	0.04450	N	1.440130	0.999487	0.21117	N	2.05	0.56469	M	2.57	0.13552	T	-0.37	0.13226	N	0.125	0.11769	-1.1044	0.03598	T	0.079	0.31344	T	10	0.0075268745	0.00171	T	.	.	.	0.095	0.27398	.	.	0.220303561663	0.21668	0.0426212552666977	0.04207	0.0981529004897	0.11081	0.417615860701	0.27510	T	0.010888	0.09781	T	-0.620682	0.00109	T	-0.660618	0.08224	T	0.0720239998466924	0.08932	T	0.665133	0.27420	T	0.03708324	0.04685	0.042754248	0.05165	0.03708324	0.04685	0.042754248	0.05165	-3.141	0.11773	T	.	.	0.085	0.14108	B	.;.;.	.;.;.	2.861198	0.37805	20.6	0.99631159585110041	0.76020	0.59415	0.30909	D	AEFGBCI	0.083085	0.16830	N	0.399067535779151	0.61371	4.337377	0.338805786792019	0.57834	3.950984	0.999969831962187	0.48965	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.89	3.1	0.34780	1.606000	0.36437	3.547000	0.39031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2702:0.1699:0.5598:0.0	4.288	0.10311	576	0.70006	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1958.98	35	chr5	34868920	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=857;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.595;SOR=0.873	GT:AD:DP:GQ:PL	0/1:77,82:159:99:1973,0,1849	20	0	1	0
chr5	35740214	35740214	G	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon23:c.G3277T:p.D1093Y,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.961	D	0.002	N	1.000	D	1.825	L	3.16	T	-1.212	T	0.069	T	0.551	4.606	25.1	5.83	2.770	5.474	20.134	0.238	0.0437317954748	.	.	5.797e-05	0	0	0	0	1.498e-05	0.0011	0.0003	4.53e-05	7	154602	rs751322523	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0003	1.61e-05	1.416e-05	9.791e-05	7.838e-05	0	0	0	0	0	0.0003	1.349e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.998	0.90584	D	0.87	0.70482	P	0.001535	0.38731	N	0.279156	0.998001	0.44406	D	2.615	0.76484	M	3.16	0.07711	T	-4.02	0.74269	D	0.551	0.57690	-1.2118	0.00081	T	0.069	0.28080	T	10	0.29617023	0.47183	T	0.043732	0.61136	D	0.238	0.54217	0.293	0.25560	0.614488361678	0.61137	0.31452597909782815	0.31365	0.219951956105	0.24538	0.40111336112	0.25224	T	0.156794	0.79023	T	-0.273232	0.11399	T	-0.355956	0.38521	T	0.900831341743469	0.55344	D	0.862614	0.55864	D	0.4989921	0.67037	0.7059621	0.82665	0.4989921	0.67037	0.7059621	0.82666	-10.07	0.75024	D	.	.	0.217	0.44745	B	.;.;.	.;.;.	5.040090	0.83879	28.2	0.9956237815127692	0.71831	0.98039	0.79086	D	AEFBI	0.773550	0.70753	D	0.757193006447374	0.83372	8.000419	0.767394663633383	0.87449	9.22636	0.999999999995025	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.580000	0.67161	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.134	0.98010	591	0.68823	.;.;.	.	.	.	.	.	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	0.02381	1393.98	40	chr5	35740214	.	G	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=910;ExcessHet=0.0000;FS=5.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=1.48;SOR=1.288	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1408,0,1123	20	0	1	0
chr5	40852672	40852672	T	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.T1340C:p.L447P,	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	1.725	L	2.27	T	-1.077	T	0.098	T	0.956	1.375	10.53	5.38	2.261	6.461	13.392	0.429	0.012432885817	.	0.000199681	9.895e-05	9.625e-05	0.0003	0	0	9.004e-05	0	0.0001	0.0001229	19	154602	rs143022216	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	8.723e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.808e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000422	0.44522	D	0.000000	1	0.81001	D	2.27	0.64531	M	2.27	0.17431	T	-5.98	0.89334	D	0.867	0.86404	-1.0765	0.08043	T	0.098	0.36677	T	10	0.6851915	0.71519	D	0.012433	0.30996	T	0.429	0.73590	.	.	0.415055319159	0.41122	0.7552021941774799	0.75467	0.249479662165	0.27528	0.438466489315	0.30368	T	0.170054	0.51765	T	0.00419462	0.52231	T	0.0742255	0.75193	D	0.214120922741859	0.21166	T	0.437256	0.12012	T	0.899575	0.91345	0.88316613	0.93784	0.899575	0.91346	0.88316613	0.93784	-8.8	0.66400	D	.	.	0.255	0.48928	B	.	.	2.917260	0.38715	20.8	0.98911227897141518	0.48381	0.87934	0.47649	D	AEFBI	0.765485	0.70196	D	0.437832267151663	0.63516	4.586854	0.337237355742674	0.57743	3.941146	0.999999998517306	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.830000	0.75110	7.179000	0.57745	0.665000	0.62972	0.898000	0.31380	0.999000	0.35428	0.509000	0.29221	0.0:0.0:0.0:1.0	13.392	0.60274	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4548.11	34	chr5	40852672	.	T	C	4548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.817e+00;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.295;SOR=0.695	GT:AD:DP:GQ:PL	0/1:58,93:151:99:2452,0,1490	19	0	2	0
chr5	40854194	40854194	C	G	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2862G:p.H954Q,	.	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.004	B	0.004	B	0.713	N	1.000	N	0.255	N	-3.87	D	-0.348	T	0.535	D	0.09	0.590	7.183	-5.02	-0.814	-2.333	1.629	0.152	0.0394264508397	.	0.000199681	0.0001	9.623e-05	0.0003	0	0	0.0001	0	0.0001	0.0001294	20	154602	rs201446776	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	9.083e-05	0.0003	0.0001	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.81e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.241	0.17643	T	0.433	0.13595	T	0.004	0.12183	B	0.004	0.10090	B	0.712547	0.10001	N	0.848917	1	0.08975	N	0.06	0.08197	N	-3.87	0.95922	D	-1.35	0.33598	N	0.081	0.05670	-0.3481	0.73608	T	0.535	0.82781	D	10	0.017871916	0.00384	T	0.039426	0.58802	D	0.152	0.39956	0.191	0.10171	0.336400405673	0.33241	0.08653269121019383	0.08587	0.027603009662	0.02824	0.282833516598	0.07891	T	0.001253	0.00742	T	-0.289981	0.09637	T	-0.348337	0.39396	T	0.00617309077308871	0.00068	T	0.469553	0.13876	T	0.03169919	0.03057	0.03542567	0.02792	0.03169919	0.03056	0.03542567	0.02792	-3.537	0.16954	T	.	.	0.135	0.29200	B	.	.	-0.622202	0.01512	0.096	0.59612998613800361	0.06265	0.01843	0.05707	N	AEFGBI	0.063454	0.12262	N	-1.43227389727204	0.02360	0.1041202	-1.49319357418328	0.02399	0.1102996	0.999954185858649	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.38	-5.02	0.02759	-1.546000	0.02292	-1.552000	0.05187	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.127:0.1765:0.2745:0.4219	1.629	0.02565	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2977.98	34	chr5	40854194	.	C	G	2977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.321;DP=942;ExcessHet=0.0000;FS=0.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.08;SOR=0.641	GT:AD:DP:GQ:PL	0/1:111,112:223:99:2992,0,2932	20	0	1	0
chr5	53083349	53083349	A	T	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon27:c.A3154T:p.T1052S,	.	.	11	1495	16	0	0	16	0.00532269	.	.	304110	not_provided|Platelet-type_bleeding_disorder_9	MedGen:C3661900|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.194	B	0.049	B	0.001	D	0.835	N	0.46	N	0.86	T	-1.033	T	0.067	T	0.124	1.015	9.147	4.79	1.080	3.768	10.852	0.038	0.0100717527135	0.0018	0.00119808	0.0017	0.0003	0.0011	0	0.0002	0.0015	0.0011	0.0052	0.0016559	256	154602	rs150997093	0.0015	0.0015	0.0013	0.0017	0.0101	0.0014	0.0014	0.0080	0.0073	0.0002	0.0010	0.0053	0	0.0002	0.0101	0.0012	0.0020	0.0049	0.0013	0.0013	0.0012	0.0014	0.0035	0.0011	0.0011	0.0022	0.0018	0.0004	0	0.0012	0.0046	0	0.0002	0.0034	0.0017	0.0038	0.0035	0.308	0.14111	T	0.711	0.05506	T	.	.	.	.	.	.	0.000528	0.43581	D	0.222198	0.835462	0.28703	N	.	.	.	0.86	0.46777	T	0.12	0.05604	N	0.117	0.10626	-1.0329	0.19522	T	0.067	0.27606	T	10	0.007706195	0.00175	T	0.010072	0.26169	T	0.038	0.09825	0.435	0.48664	0.789854212453	0.78790	0.43204601794977227	0.43121	0.154822667807	0.17480	0.395790934563	0.24483	T	.	.	.	-0.551257	0.00287	T	-0.563665	0.16034	T	0.0125553680293446	0.00208	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	1.568344	0.20082	14.58	0.95467588244027402	0.27011	0.93699	0.58939	D	AEFDBI	0.237835	0.36005	N	-0.363103645771931	0.26794	1.465058	-0.185448689973304	0.32070	1.820975	0.999992556846656	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	4.79	0.60909	3.155000	0.50398	3.448000	0.38427	0.756000	0.94297	0.999000	0.42656	0.967000	0.29559	0.530000	0.29707	0.9259:0.0:0.0741:0.0	10.852	0.45983	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	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	0.02381	1454.98	39	chr5	53083349	.	A	T	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.180e-01;DP=799;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.137;SOR=0.842	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1469,0,1135	20	0	1	0
chr5	59039095	59039095	G	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001197222:exon1:c.C13A:p.P5T,	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	1	1515	6	0	0	6	0.00197628	.	.	438944	not_provided|PDE4D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0159	0.0060	0.0066	0	0.0224	0.0232	0.0227	0.0022	0.0023027	356	154602	rs16889108	0.0105	0.0100	0.0104	0.0107	0.0119	0.0104	0.0103	0.0117	0.0116	0.0013	0.0046	0.0033	0	0.0180	0.0004	0.0119	0.0067	0.0024	0.0085	0.0085	0.0084	0.0086	0.0135	0.0081	0.0079	0.0128	0.0125	0.0018	0	0.0042	0.0037	0	0.0189	0	0.0135	0.0043	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	850.98	34	chr5	59039095	.	G	T	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.850e-01;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=0.060;SOR=0.662	GT:AD:DP:GQ:PL	0/1:59,37:96:99:865,0,1544	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,19,0:43:99:.:.:676,0,951,749,1008,1758	11	1	6	0
chr5	75104749	75104749	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon21:c.T4639G:p.S1547A	.	.	428	1088	6	0	0	6	0.00274977	.	.	3278406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	1.935	M	-0.01	T	-0.864	T	0.250	T	0.185	1.657	11.50	3.06	1.002	1.086	10.861	0.066	0.0450366899847	.	.	5.71e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs752446409	4.26e-05	4.036e-05	3.279e-05	5.268e-05	0.0011	3.355e-05	3.072e-05	0.0005	0.0003	3.165e-05	0	0	2.799e-05	0	0.0011	2.966e-05	8.634e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.011	0.55530	D	0.534	0.09965	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.2	0.62015	M	-0.01	0.62762	T	-0.97	0.25770	N	0.231	0.28381	-0.8637	0.50995	T	0.250	0.62004	T	7	0.11529091	0.21717	T	0.045037	0.61784	D	0.066	0.19193	0.322	0.30226	0.139678290688	0.13603	0.023792133616050835	0.02330	.	.	0.265491098166	0.05562	T	0.084476	0.37286	T	-0.266625	0.12137	T	-0.424463	0.30564	T	0.097513245611346	0.12081	T	0.524848	0.17228	T	0.11139826	0.26325	0.14425655	0.34255	0.11139826	0.26325	0.14425655	0.34254	-4.536	0.31356	T	.	.	0.104	0.18787	B	.;.	.;.	2.256948	0.28836	17.93	0.98964991100239141	0.49403	0.84715	0.43802	D	AEFI	0.092442	0.18715	N	-0.171414790650751	0.34328	1.958076	-0.161403787034218	0.32971	1.88123	2.10907296784703E-4	0.05948	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	3.06	0.34374	1.091000	0.30526	1.156000	0.24517	-0.050000	0.17177	0.996000	0.39380	0.050000	0.21810	0.939000	0.47918	0.8517:0.0:0.1483:0.0	10.861	0.46036	803	0.44167	.;.	.	.	.	.	.	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	0.02381	2255.98	35	chr5	75104749	.	A	C	2255.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=939;ExcessHet=0.0000;FS=12.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.12;SOR=1.037	GT:AD:DP:GQ:PL	0/1:94,82:176:99:2270,0,2456	20	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.749	P	0.000	D	1.000	D	-0.205	N	-1.44	T	-0.130	T	0.367	T	0.889	4.515	24.3	5.29	2.134	7.877	15.569	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	0.09524	163.69	50	chr5	79044510	.	T	C	163.69	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.041e+00;DP=1356;ExcessHet=0.6776;FS=85.976;InbreedingCoeff=-0.1009;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.743;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,12:96:5:0|1:79044510_T_C:5,0,3071:79044510	17	0	4	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/1:60,22:82:31:31,0,1271	16	0	5	0
chr5	80559007	80559007	A	G	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.T1013C:p.V338A,	.	.	436	1061	25	0	0	25	0.0116442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.811	N	1.000	N	-0.205	N	2.39	T	-0.955	T	0.013	T	0.099	0.714	7.802	2.32	0.152	1.814	6.188	0.022	.	0.0028	0.00439297	0.0042	0.0010	0.0022	0	0.0003	0.0029	0.0044	0.0164	0.0039003	603	154602	rs148564433	0.0038	0.0038	0.0033	0.0042	0.0156	0.0037	0.0037	0.0149	0.0147	0.0005	0.0021	0.0001	7.557e-05	0.0006	0.0088	0.0034	0.0026	0.0156	0.0027	0.0027	0.0026	0.0028	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0039	0	0	0.0002	0	0.0034	0.0038	0.0137	0.38	0.11191	T	0.469	0.12281	T	0.0	0.02946	B	0.001	0.04355	B	0.810656	0.06825	N	1.135360	1	0.08975	N	-0.345	0.03330	N	2.39	0.15724	T	-0.17	0.09627	N	0.021	0.00339	-0.9551	0.40078	T	0.013	0.05129	T	10	0.0030637383	0.00051	T	.	.	.	0.022	0.04323	.	.	0.0666544352282	0.05500	0.36264810162296324	0.36178	0.129338878314	0.14584	0.250252187252	0.03794	T	0.00534	0.04790	T	-0.674948	0.00051	T	-0.728667	0.04388	T	0.00538134100217449	0.00058	T	0.29847	0.05558	T	0.05018048	0.09025	0.044652242	0.05834	0.05018048	0.09025	0.044652242	0.05834	-3.707	0.19422	T	.	.	0.097	0.15921	B	.	.	0.980013	0.13573	10.10	0.88781875991788861	0.18251	0.78876	0.38984	D	AEFBI	0.148571	0.27249	N	-0.792774858898037	0.13498	0.6653429	-0.637421739839242	0.18534	0.9905531	0.00174956441571191	0.08839	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.17	2.32	0.27895	1.824000	0.38710	2.686000	0.34052	0.756000	0.94297	0.311000	0.25423	0.940000	0.28757	0.905000	0.44082	0.7149:0.1345:0.1506:0.0	6.188	0.19722	677	0.60274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1220.98	35	chr5	80559007	.	A	G	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=801;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-4.460e-01;SOR=0.931	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1235,0,1266	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/2:34,0,56,0:90:99:2149,2252,3659,0,1408,1237,2252,3659,1408,3659	7	0	1	0
chr5	103186407	103186407	G	A	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345871:exon26:c.G3083A:p.R1028H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.023	B	0.009	B	0.000	D	1.000	D	0.695	N	2.44	T	-1.088	T	0.037	T	0.698	3.768	19.13	5.81	2.747	9.545	20.079	0.269	0.0133089949265	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs781956657	8.21e-06	8.209e-06	6.807e-06	9.627e-06	0.0001	4.38e-06	3.46e-06	5.805e-05	3.952e-05	0	0.0001	0	0	0	0	2.698e-06	0	3.478e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.166	0.23183	T	0.12	0.37589	T	0.023	0.18885	B	0.008	0.14300	B	0.000003	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	2.44	0.15145	T	-0.75	0.21003	N	0.787	0.80964	-1.0878	0.05908	T	0.037	0.15943	T	10	0.3775167	0.53944	T	0.013309	0.32613	T	0.269	0.58381	0.324	0.30549	0.344483371355	0.34058	0.554096052359456	0.55336	0.142195288803	0.16031	0.830634534359	0.86659	D	0.012596	0.15378	T	-0.17098	0.25086	T	-0.214077	0.53304	T	0.238103946650459	0.22331	T	0.953205	0.82144	D	0.105955675	0.25054	0.09406278	0.22247	0.105955675	0.25054	0.09406278	0.22247	-4.1	0.26534	T	.	.	0.241	0.64233	B	.;.;.;.;.	.;.;.;.;.	5.149688	0.86250	28.8	0.99890188142266056	0.96436	0.99758	0.99249	D	AEFBI	0.890208	0.82502	D	0.15415985244287	0.49010	3.106213	0.383370518783999	0.60540	4.242609	0.999999999998034	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	9.592000	0.97408	11.825000	0.97352	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.079	0.97766	966	0.07191	.;.;.;.;.	.	.	.	.	.	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	0.02381	1877.98	33	chr5	103186407	.	G	A	1877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-1.064e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/1:53,74:127:99:1892,0,1175	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/2:0,87,37,0:124:99:3586,1515,2275,2243,0,3536,3848,2085,3117,4934	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:43,53,0:96:99:2210,0,2239,2268,1829,5270	3	5	12	0
chr5	119150163	119150163	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.C4336T:p.L1446F	.	.	.	.	.	.	.	.	.	.	.	2325593	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.65	M	2.55	T	-0.947	T	0.128	T	0.501	2.964	15.88	5.42	2.705	3.376	19.576	0.192	0.0295049341261	.	.	4.958e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs772618591	8.895e-06	8.893e-06	9.531e-06	8.252e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0	0	0	0.0003	0	0	1.799e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.995	0.97372	D	0.000000	0.84330	D	0.052492	0.999992	0.58761	D	3.27	0.90083	M	2.54	0.13916	T	-3.43	0.67359	D	0.618	0.63374	-0.9472	0.41448	T	0.128	0.43625	T	10	0.21211022	0.37660	T	0.029505	0.52003	D	0.192	0.47115	0.275	0.22687	0.298199939746	0.29431	0.5821734151666957	0.58146	0.373947390385	0.38853	0.487354576588	0.37072	T	0.088094	0.58109	T	-0.295264	0.09113	T	-0.331901	0.41258	T	0.768275022506714	0.44336	D	0.886611	0.61335	D	0.6199908	0.73762	0.55103415	0.74040	0.6199908	0.73764	0.55103415	0.74040	-4.288	0.28008	T	.	.	0.478	0.65740	A	.;.	.;.	3.622927	0.51284	23.1	0.99878439872842484	0.95491	0.94055	0.59977	D	AEFBI	0.272814	0.38836	N	0.746372972366431	0.82668	7.820	0.698345213785724	0.82251	7.721481	0.99650445491037	0.34791	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.42	5.42	0.78666	3.452000	0.52735	4.938000	0.46187	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	19.576	0.95440	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	42	chr5	119150163	.	C	T	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e+00;DP=927;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-4.160e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:76,60:136:99:1450,0,2163	20	0	1	0
chr5	128084110	128084110	C	G	exonic	SLC12A2	.	nonsynonymous SNV	SLC12A2:NM_001046:exon1:c.C156G:p.D52E	.	.	382	1129	11	0	0	11	0.00484795	.	.	1662089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.009	B	0.616	N	1.000	N	0	N	-1.85	D	-0.793	T	0.275	T	0.069	-1.620	0.013	0.618	0.544	-0.276	5.998	0.229	.	.	0.00399361	0.0450	0	0.125	0	.	0	0.1	0.0502	0.0008603	133	154602	rs540907216	0.0013	0.0015	0.0011	0.0016	0.0146	0.0013	0.0013	0.0136	0.0132	0.0002	0.0005	0.0038	0.0001	7.908e-05	0.0047	0.0008	0.0020	0.0146	0.0012	0.0012	0.0009	0.0014	0.0149	0.0010	0.0010	0.0121	0.0111	0.0002	0	0.0015	0.0029	0	0	0	0.0009	0.0014	0.0149	1.0	0.00964	T	1.0	0.01155	T	0.001	0.09854	B	0.003	0.14300	B	0.615914	0.05728	N	1.241770	1	0.08975	N	0.69	0.16971	N	-1.85	0.84341	D	0.06	0.06253	N	0.049	0.02559	-0.7928	0.55566	T	0.275	0.64629	T	10	0.0023020804	0.00034	T	.	.	.	0.229	0.52916	0.07	0.00395	0.335916738318	0.33200	0.18475788579697644	0.18393	0.646648351517	0.58073	0.890226721764	0.95289	D	0.169723	0.51720	T	-0.52467	0.00413	T	-0.512149	0.21094	T	0.00903742630969716	0.00113	T	0.634936	0.24909	T	0.0369383	0.04641	0.033514716	0.02260	0.03461549	0.03918	0.033514716	0.02260	-3.441	0.16195	T	.	.	0.076	0.17317	B	.;.;.	.;.;.	0.352858	0.07257	3.861	0.65902254356451717	0.07905	0.09044	0.14877	N	AEFGBHCI	0.058444	0.10966	N	-1.18246302758639	0.05265	0.239603	-1.13172377916255	0.07100	0.3441349	0.99999977645087	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	3.86	0.618	0.16800	-1.628000	0.02134	0.012000	0.13456	0.442000	0.21104	0.000000	0.06391	0.301000	0.24220	0.040000	0.14268	0.0:0.5047:0.2784:0.2168	5.998	0.18732	737	0.53483	.;.;.	.	.	.	.	.	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	0.02381	61.02	20	chr5	128084110	.	C	G	61.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=403;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.05;ReadPosRankSum=-4.260e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,4:20:75:75,0,432	20	0	1	0
chr5	128261768	128261768	T	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon64:c.A8332C:p.K2778Q,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	209653	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Connective_tissue_disorder|not_provided|FBN2-related_disorder|Congenital_contractural_arachnodactyly	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|.|MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.455	P	0.11	B	0.000	D	1.000	D	1.39	L	-1.95	D	-0.042	T	0.433	T	0.365	2.399	13.98	4.29	1.064	2.577	12.594	0.379	.	7.7e-05	0.00199681	0.0015	0	0.0003	0	0	5.994e-05	0.0022	0.0103	0.0012548	194	154602	rs371715068	0.0007	0.0007	0.0004	0.0011	0.0107	0.0007	0.0007	0.0101	0.0099	0	2.236e-05	0	2.519e-05	0	0.0012	8.004e-05	0.0008	0.0107	0.0003	0.0003	0.0002	0.0005	0.0089	0.0002	0.0002	0.0068	0.0060	4.809e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0089	0.028	0.46129	D	.	.	.	0.455	0.36245	P	0.11	0.31460	B	0.000169	0.48594	D	0.089755	0.648583	0.32942	D	2.19	0.61577	M	-1.95	0.85003	D	-1.33	0.33197	N	0.378	0.47857	-0.0423	0.81369	T	0.433	0.77381	T	10	0.0089434385	0.00202	T	.	.	.	0.379	0.69696	.	.	0.731595758872	0.72920	0.43575670581211745	0.43492	0.342415349429	0.36184	0.379352450371	0.22165	T	0.250057	0.62011	T	-0.282861	0.10366	T	-0.169692	0.57471	T	0.0301095422234892	0.02007	T	0.611339	0.23205	T	0.112824924	0.26650	0.08668732	0.20101	0.13665086	0.31670	0.08352664	0.19148	-7.425	0.57081	T	0.19265991467515794	0.25322	0.217	0.44720	B	.;.;.	.;.;.	3.036482	0.40690	21.2	0.97879717112879006	0.36594	0.95459	0.64805	D	AEFBI	0.546246	0.56042	D	-0.105089182732931	0.37170	2.158746	-0.0336027925218552	0.38207	2.247773	0.999508203568386	0.40062	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	4.29	0.50359	2.544000	0.45420	4.047000	0.41475	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.1387:0.8613	12.594	0.55813	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1231.98	34	chr5	128261768	.	T	G	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.380e-01;DP=795;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-4.750e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1246,0,1409	20	0	1	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:69,0,11:80:99:0|1:128288437_C_G:125,333,3189,0,2856,2823:128288437	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:69,0,11:80:99:0|1:128288437_C_G:125,333,3189,0,2856,2823:128288437	14	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:99:0|1:128288437_C_G:125,0,2823:128288437	1	0	11	9
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.409	D	0.906	D	0.995	4.376	23.1	4.86	2.698	7.609	18.546	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,11,0:84:99:0|1:128288437_C_G:113,0,2973,333,3006,3339:128288437	18	0	2	0
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.991	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.407	D	0.906	D	0.989	4.535	24.5	4.86	2.698	7.609	18.546	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,11,0:84:99:0|1:128288437_C_G:113,0,2973,333,3006,3339:128288437	18	0	2	0
chr5	128288444	128288444	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.T6751C:p.C2251R,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.78	D	0.348	D	0.898	D	0.995	4.054	20.8	4.72	2.110	9.087	14.659	0.854	0.20491362062	7.7e-05	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377678254	0	4.109e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	1	0.81001	D	3.695	0.94570	H	-2.78	0.90962	D	-8.67	0.97580	D	0.973	0.99015	0.348	0.88301	D	0.898	0.96618	D	10	0.9484539	0.94175	D	0.204914	0.86956	D	0.854	0.95507	.	.	0.953610712289	0.95311	0.9912745761668067	0.99122	0.944026267107	0.72331	0.878701329231	0.93785	D	0.925175	0.98690	D	0.504643	0.94436	D	0.487108	0.94357	D	0.999381065368652	0.97194	D	0.950805	0.81197	D	0.9238388	0.93623	0.88105124	0.93635	0.9238388	0.93624	0.88105124	0.93635	-12.745	0.88285	D	0.8721025990884144	0.93250	0.998	0.97573	P	.;.;.	.;.;.	5.128776	0.85820	28.7	0.9978510937982501	0.87131	0.99720	0.98948	D	AEFBI	0.954903	0.97235	D	0.872216392941965	0.90336	10.35719	0.795737407634473	0.89493	9.998643	0.999999875885111	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.72	4.72	0.59248	9.325000	0.96006	11.217000	0.89620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.659	0.68458	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|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	0	0	0	0	0	0	0	0	0	0	0	0.04762	540.11	41	chr5	128288444	.	A	G	540.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.714e+00;DP=1480;ExcessHet=0.1072;FS=175.858;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.66;ReadPosRankSum=2.65;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,11:84:99:0|1:128288437_C_G:113,0,2973:128288437	19	0	2	0
chr5	131671732	131671732	G	C	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon13:c.C2628G:p.D876E	.	.	428	1091	3	0	0	3	0.001373	.	.	2102489	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.008	B	0.014	B	.	.	1.000	D	1.955	M	2.47	T	-1.099	T	0.045	T	0.643	1.673	11.55	4.43	1.233	4.114	13.911	0.121	0.00906666602618	0.0007	.	0.0005	9.694e-05	0.0003	0	0.0002	0.0007	0	0.0008	0.0005045	78	154602	rs144448122	0.0007	0.0007	0.0007	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	2.987e-05	0.0006	0	0	7.49e-05	0.0019	0.0008	0.0007	0.0010	0.0005	0.0005	0.0006	0.0004	0.0012	0.0004	0.0004	0.0007	0.0005	4.815e-05	0	0.0010	0	0	0.0003	0.0034	0.0007	0.0005	0.0012	0.045	0.41915	D	0.71	0.05863	T	0.008	0.14655	B	0.014	0.16862	B	.	.	.	.	0.998899	0.81001	D	2.045	0.56016	M	2.43	0.15261	T	-1.12	0.28906	N	0.14	0.19055	-1.0994	0.04164	T	0.045	0.19478	T	9	0.021566361	0.00519	T	0.009067	0.23869	T	0.121	0.33580	0.138	0.04187	0.0934897674506	0.08844	0.3487595176094762	0.34789	0.0598001417922	0.06652	.	.	.	0.018107	0.14658	T	-0.334177	0.05801	T	-0.309146	0.43751	T	0.0168132154750954	0.00435	T	0.741226	0.36032	T	0.15457225	0.34978	0.12969416	0.31179	0.15457225	0.34978	0.12969416	0.31178	-2.884	0.08984	T	.	.	0.17	0.44872	B	.;.;.;.	.;.;.;.	2.486227	0.32067	18.93	0.97931400813164871	0.36956	0.87272	0.46761	D	AEFDBHCI	0.561268	0.56933	D	-0.135815289905262	0.35840	2.063801	0.0137751227030813	0.40354	2.406948	0.999999999899221	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.3	4.43	0.52967	4.244000	0.58522	5.853000	0.50357	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0735:0.0:0.9265:0.0	13.911	0.63368	375	0.84013	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	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	0.02381	1481.98	33	chr5	131671732	.	G	C	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=819;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.305;SOR=0.863	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1496,0,1938	20	0	1	0
chr5	133101780	133101780	A	G	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon17:c.A2059G:p.I687V,	.	.	433	1085	4	0	0	4	0.00183993	.	.	3274364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.484	N	0.996	N	0.69	N	2.62	T	-0.970	T	0.022	T	0.067	1.294	10.23	2.68	0.873	2.897	3.574	0.047	0.00429408476786	0.0002	.	0.0004	0	0.0002	0	0	0.0007	0	0	0.0003558	55	154602	rs200858773	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	8.99e-05	0.0003	0.0005	0	0.0001	0.0007	0.0004	0.0005	2.337e-05	0.0003	0.0003	0.0004	0.0003	0.0009	0.0003	0.0002	0.0006	0.0004	4.81e-05	0	0.0009	0	0	0.0002	0.0068	0.0004	0.0009	0.0002	0.298	0.14595	T	0.288	0.21277	T	0.0	0.02946	B	0.001	0.04355	B	0.484448	0.05000	N	1.231630	0.996137	0.23105	N	0.625	0.15840	N	2.62	0.12988	T	0.32	0.03955	N	0.1	0.17416	-0.9700	0.37200	T	0.022	0.09513	T	10	0.021812111	0.00530	T	0.004294	0.10404	T	0.047	0.12962	.	.	0.296721761885	0.29290	0.0868697372786833	0.08620	0.184394451327	0.20741	0.246679961681	0.03426	T	0.22447	0.58891	T	-0.606314	0.00133	T	-0.737619	0.03992	T	0.0162355157624331	0.00396	T	0.717128	0.32987	T	0.017138418	0.00249	0.023487143	0.00362	0.017138418	0.00249	0.023487143	0.00362	-3.25	0.13101	T	.	.	0.061	0.03773	B	.;.	.;.	2.361356	0.30291	18.39	0.89281969998733257	0.18663	0.65642	0.32806	D	AEFDBI	0.110406	0.21895	N	-0.607870241727748	0.18707	0.9733682	-0.435437486295416	0.23965	1.309725	0.153561891771939	0.17480	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	2.68	0.30839	2.974000	0.48964	4.693000	0.44374	-0.210000	0.08370	0.997000	0.40164	0.999000	0.35428	0.881000	0.42162	0.6528:0.0:0.1595:0.1877	3.574	0.07480	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	900.98	37	chr5	133101780	.	A	G	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=809;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-8.660e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:59,45:104:99:915,0,1299	20	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S	.	.	447	1072	3	0	0	3	0.0013973	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.988	D	0.000	D	1.000	D	3.205	M	-1.75	D	0.733	D	0.788	D	0.88	4.908	28.3	5.71	2.701	7.689	19.849	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	257.98	33	chr5	134682375	.	C	T	257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=744;ExcessHet=0.0000;FS=1.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.79;ReadPosRankSum=0.456;SOR=0.437	GT:AD:DP:GQ:PL	0/1:26,12:38:99:272,0,678	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,16:116:99:.:.:128,0,3446	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:98,2,16:116:99:.:.:128,312,3858,0,3454,3446	9	0	7	2
chr5	140876311	140876311	G	C	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G839C:p.G280A	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.033	B	.	.	1.000	N	-0.5	N	0.84	T	-1.034	T	0.048	T	0.096	0.785	8.141	-0.596	0.154	-2.781	3.370	0.039	0.00436000111258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.17	0.35582	T	0.002	0.12996	B	0.007	0.22329	B	.	.	.	.	1	0.08975	N	-0.435	0.02851	N	0.84	0.47477	T	0.91	0.01595	N	0.071	0.05414	-1.0343	0.19078	T	0.048	0.20434	T	9	0.053412974	0.05529	T	0.00436	0.10624	T	0.039	0.10176	0.498	0.58835	0.359763055319	0.35592	0.05684907494315386	0.05625	.	.	0.223926588893	0.01548	T	0.002218	0.01614	T	-0.302359	0.08439	T	-0.672094	0.07474	T	0.0665317244994423	0.08155	T	0.375462	0.08961	T	0.056248393	0.11040	0.07864988	0.17635	0.056248393	0.11039	0.07864988	0.17634	-1.632	0.02205	T	.	.	0.086	0.15430	B	.;.	.;.	1.912029	0.24286	16.34	0.92175235712842352	0.21540	0.02570	0.07113	N	AEFDBI	0.125910	0.24263	N	-0.959381346781453	0.09483	0.4490078	-0.876227040071358	0.12659	0.6524299	0.965745393465007	0.28853	0.65757	0.49021	0	0.573888	0.26702	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.07	-0.596	0.11072	-2.677000	0.00911	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1521:0.3981:0.2986:0.1512	3.370	0.06797	65	0.97253	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2673.98	37	chr5	140876311	.	G	C	2673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.804;DP=1177;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.156;SOR=0.701	GT:AD:DP:GQ:PL	0/1:87,103:190:99:2688,0,2194	20	0	1	0
chr5	141194098	141194098	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1546T:p.L516F,	.	.	199	1322	1	0	0	1	0.000378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.97	D	.	.	1.000	N	3.68	H	4.51	T	-1.092	T	0.040	T	0.37	2.373	13.89	2.64	0.810	-0.115	9.311	0.063	0.00789078730606	.	0.000599042	0.0002	0	8.645e-05	0.0026	0	0	0	0.0001	0.0001811	28	154602	rs201065874	8.392e-05	8.345e-05	8.752e-05	8.028e-05	0.0027	7.176e-05	6.722e-05	0.0023	0.0021	0	0	0	0.0027	0	0	0	9.996e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0029	6.512e-05	5.323e-05	0.0018	0.0014	0	0	6.542e-05	0	0.0029	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.97	0.72226	D	.	.	.	.	1	0.08975	N	3.34	0.90961	M	4.51	0.02015	T	-3.85	0.72353	D	0.277	0.31365	-1.0919	0.05223	T	0.040	0.17404	T	9	0.022702157	0.00574	T	0.007891	0.20929	T	0.063	0.18251	0.668	0.80602	0.693435513012	0.69079	0.09954447345940201	0.09885	.	.	0.676252603531	0.63732	T	0.122921	0.44693	T	-0.39169	0.02623	T	-0.338776	0.40482	T	0.229810539716226	0.21942	T	0.978169	0.92312	D	0.32639906	0.55174	0.25505334	0.51181	0.32639906	0.55174	0.25505334	0.51180	-12.413	0.86805	D	.	.	0.362	0.57361	A	.	.	2.294648	0.29357	18.10	0.99634936630008708	0.76264	0.05281	0.11123	N	AEFI	0.074786	0.14999	N	0.15760717145327	0.49173	3.120645	-0.111374759958172	0.34932	2.014954	0.0031078731442692	0.09929	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.53	2.64	0.30504	-0.211000	0.09336	.	.	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1609:0.6829:0.1562:0.0	9.311	0.37067	672	0.60758	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2023.98	60	chr5	141194098	.	C	T	2023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1275;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.16;MQRankSum=-6.510e-01;QD=20.87;ReadPosRankSum=-2.181e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/1:38,59:97:99:2038,0,1199	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,62,0:210:99:0|1:141303079_C_G:1293,0,4732,1734,4915,6649:141303079	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,62,0:210:99:0|1:141303079_C_G:1293,0,4732,1734,4915,6649:141303079	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,62:210:99:0|1:141303079_C_G:1293,0,4732:141303079	1	0	20	0
chr5	141346068	141346068	G	A	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.G2035A:p.E679K	.	.	12	1498	12	0	0	12	0.00398936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.005	B	0.008	B	0.017	U	1.000	N	1.04	L	0.8	T	-1.094	T	0.005	T	0.045	1.429	10.72	-8.83	-1.320	-0.717	7.207	0.015	.	0.0002	0.0119808	0.0040	0	0.0004	0.0470	0	0.0004	0.0045	0.0021	0.0037268	97	26028	rs201885897	0.0018	0.0018	0.0018	0.0018	0.0536	0.0018	0.0018	0.0517	0.0509	5.975e-05	6.712e-05	0.0007	0.0536	0	0.0004	0.0002	0.0028	0.0022	0.0019	0.0019	0.0016	0.0022	0.0438	0.0017	0.0016	0.0391	0.0373	2.406e-05	0	0.0001	0.0012	0.0438	0	0	0.0004	0.0028	0.0039	0.358	0.11994	T	0.442	0.17217	T	0.005	0.12996	B	0.008	0.13708	B	0.017088	0.01457	U	418.642000	1	0.08975	N	0.6	0.15550	N	0.8	0.48769	T	-1.1	0.28497	N	0.086	0.06322	-1.0937	0.04944	T	0.005	0.01688	T	10	0.0026790798	0.00041	T	.	.	.	0.015	0.02232	.	.	0.369867359543	0.36593	0.6191855353020055	0.61851	0.477986179833	0.46890	.	.	.	0.00485	0.04270	T	-0.711151	0.00031	T	-0.748734	0.03535	T	0.0130645707129822	0.00228	T	0.0732927	0.00563	T	0.030292528	0.02669	0.041555088	0.04748	0.030292528	0.02668	0.041555088	0.04748	-5.203	0.38972	T	.	.	0.068	0.02861	B	.;.	.;.	0.125081	0.05219	1.726	0.88088100932119573	0.17707	0.01231	0.04354	N	AEFBI	0.079480	0.16054	N	-1.58782662025525	0.01326	0.05776808	-1.70497686907486	0.01115	0.05013864	0.976031649841797	0.29688	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.74	-8.83	0.00696	-0.311000	0.08164	.	.	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1244:0.0981:0.6311:0.1463	7.207	0.25085	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4679.11	33	chr5	141346068	.	G	A	4679.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1608;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.36;MQRankSum=0.373;QD=14.18;ReadPosRankSum=-8.900e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/1:95,86:181:99:2331,0,2525	19	0	2	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925: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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:205,72:277:99:315,0,4024	6	0	15	0
chr5	150129832	150129832	G	A	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon9:c.C1312T:p.R438W	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	.	9	1503	10	0	0	10	0.00331565	.	.	691786	Infantile_myofibromatosis|Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome|Acroosteolysis-keloid-like_lesions-premature_aging_syndrome|Basal_ganglia_calcification,_idiopathic,_4	MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550,Orphanet:2591|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592,Orphanet:477831|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812,Orphanet:363665|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007,Orphanet:1980	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.987	D	0.462	P	0.153	N	0.988	N	0	N	-0.99	T	-0.868	T	0.194	T	0.155	3.371	17.36	4.05	1.245	2.740	7.953	0.244	0.17604741671	0.0009	0.000599042	0.0012	0.0002	0.0005	0	0.0008	0.0011	0	0.0035	0.0011384	176	154602	rs142992960	0.0011	0.0011	0.0011	0.0012	0.0034	0.0011	0.0011	0.0030	0.0029	5.974e-05	0.0004	0.0017	5.038e-05	0.0012	0.0012	0.0010	0.0013	0.0034	0.0008	0.0008	0.0007	0.0009	0.0041	0.0007	0.0006	0.0027	0.0023	0.0001	0	0.0003	0.0023	0	0.0013	0	0.0009	0.0019	0.0041	0.004	0.65419	D	0.012	0.63918	D	0.987	0.61912	D	0.394	0.44277	B	0.153054	0.17904	N	0.510024	0.988299	0.24426	N	0.895	0.22405	L	-0.99	0.75911	T	-1.88	0.43906	N	0.224	0.25130	-0.8683	0.50657	T	0.194	0.54710	T	10	0.010773361	0.00238	T	0.176047	0.85193	D	0.244	0.55061	.	.	0.522710055283	0.51916	0.4928754038390284	0.49208	1.55043525411	0.87889	0.215069547296	0.01045	T	0.587593	0.86591	D	-0.388394	0.02755	T	-0.334042	0.41019	T	0.0195838704209447	0.00661	T	0.934407	0.75457	D	0.082097694	0.18895	0.097309776	0.23157	0.082097694	0.18895	0.097309776	0.23157	-8.809	0.66459	D	0.11459484419628667	0.10158	0.100	0.16973	B	.	.	4.891807	0.80320	27.3	0.99656843108552062	0.77694	0.90533	0.51788	D	AEFDGBHCI	0.432715	0.49448	N	-0.0571964068766796	0.39282	2.313943	-0.0255533165133783	0.38564	2.273863	0.999999999982318	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.471687	0.07189	1	0.691587	0.68394	0	.	.	4.95	4.05	0.46415	3.051000	0.49576	11.840000	0.97786	0.674000	0.70861	0.994000	0.38300	1.000000	0.68203	0.592000	0.31189	0.0:0.1773:0.6393:0.1834	7.953	0.29186	561	0.71236	.	.	.	.	.	.	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	0.02381	2009.98	35	chr5	150129832	.	G	A	2009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.560;DP=872;ExcessHet=0.0000;FS=8.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-3.980e-01;SOR=0.285	GT:AD:DP:GQ:PL	0/1:70,78:148:99:2024,0,1721	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:107,33:148:99:156,0,2168	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,256,305:561:99:.:.:24108,12506,11674,10490,0,9477	0	12	1	0
chr5	157743959	157743964	GCGGGC	-	exonic	LSM11	.	nonframeshift deletion	LSM11:NM_173491:exon1:c.209_214del:p.G75_R76del,	.	.	411	1097	11	1	2	15	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	.	8.918e-05	0	0.0004	0	0	0.0001	0	0	0.0001921	5	26028	rs746823463	0.0003	0.0004	0.0004	0.0003	0.0016	0.0003	0.0003	0.0007	0.0005	0.0008	0.0004	0.0003	0.0001	6.509e-05	0.0016	0.0004	0.0004	7.507e-05	0.0003	0.0003	0.0002	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0004	0.0009	0	0	0.0034	0.0005	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1438.94	35	chr5	157743958	.	GGCGGGC	G	1438.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=823;ExcessHet=0.0000;FS=4.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=-9.780e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1453,0,1844	20	0	1	0
chr5	160565617	160565617	T	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.A4222T:p.M1408L	.	.	428	1091	3	0	0	3	0.001373	.	.	3301049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.168	N	1.000	N	-0.205	N	1.08	T	-1.075	T	0.040	T	0.097	1.283	10.20	-3.34	-0.175	-0.569	0.290	0.061	0.00281509428216	.	0.000199681	5.798e-05	0	0.0002	0	0	1.498e-05	0	0.0002	5.82e-05	9	154602	rs564583647	4.036e-05	4.036e-05	2.45e-05	5.638e-05	0.0017	3.179e-05	2.91e-05	0.0009	0.0007	0	0	0	0	0	0.0017	3.597e-06	0.0001	0.0004	2.626e-05	2.625e-05	0	5.369e-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	0.371	0.11514	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.168421	0.03092	N	1.566650	1	0.08975	N	0	0.06538	N	1.08	0.39401	T	-0.54	0.16598	N	0.106	0.09066	-1.0745	0.08452	T	0.040	0.17020	T	9	0.024899572	0.00702	T	0.002815	0.05869	T	0.061	0.17616	0.197	0.10975	0.263612267334	0.25957	0.12314436343434507	0.12240	0.0729359774762	0.08171	0.204060912132	0.00584	T	0.001356	0.00824	T	-0.559166	0.00257	T	-0.724823	0.04566	T	0.107111863791943	0.13121	T	0.358964	0.08219	T	0.06554185	0.14017	0.048929933	0.07371	0.06554185	0.14016	0.048929933	0.07371	-1.368	0.01514	T	.	.	0.086	0.12323	B	.;.	.;.	-0.766893	0.01174	0.056	0.3647727986506259	0.02349	0.01322	0.04567	N	AEFDHI	0.034204	0.04195	N	-1.36577426175907	0.02964	0.1317186	-1.37348239447228	0.03537	0.1651821	0.0247916932914774	0.13604	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.44	-3.34	0.04635	-0.793000	0.04695	-3.069000	0.03089	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2772:0.2603:0.1473:0.3152	0.290	0.00239	887	0.27948	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2396.98	34	chr5	160565617	.	T	A	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.93;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.495;SOR=0.694	GT:AD:DP:GQ:PL	0/1:105,86:191:99:2411,0,2836	20	0	1	0
chr5	168772899	168772899	C	T	exonic	SLIT3	.	stopgain	SLIT3:NM_001271946:exon14:c.G1341A:p.W447X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.400	39	5.63	2.654	7.818	19.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231933530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.915	0.91736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	10.927380	0.99876	50	0.9971981858933755	0.81984	0.95599	0.65367	D	AEFDBHCIJ	0.465150	0.51334	N	0.974403188253802	0.94901	13.13677	0.869211514554081	0.94087	12.49486	0.999999999999721	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.905000	0.86479	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.691	0.95998	945	0.12563	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	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	0.02381	1444.98	33	chr5	168772899	.	C	T	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=808;ExcessHet=0.0000;FS=6.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.534;SOR=0.588	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1459,0,1594	20	0	1	0
chr5	172093930	172093930	-	AGA	exonic	STK10	.	nonframeshift insertion	STK10:NM_005990:exon9:c.1035_1036insTCT:p.S345_E346insS,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0003	0.0001	0.0003	0	0	0.0004	0.0039	0	0.0002264	35	154602	rs777255193	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0.0002	0.0001	0.0032	0	0	0.0048	8.749e-05	0.0006	2.856e-05	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	8.881e-05	9.634e-05	0	0.0001	0.0046	0	0	0.0068	0.0002	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	717.94	33	chr5	172093930	.	C	CAGA	717.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=604;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.61;ReadPosRankSum=1.11;SOR=0.491	GT:AD:DP:GQ:PL	0/1:8,18:26:99:732,0,282	20	0	1	0
chr5	173608292	173608292	-	CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGGTG	exonic	BOD1	.	nonframeshift insertion	BOD1:NM_001159651:exon3:c.362_363insCACCCCCTCCAGAGCCCGAAGGCCAGGACCCTCCAGCTCCATCCCAGGACACTTCCTAAG:p.Q121delinsHTPSRARRPGPSSSIPGHFLR,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.988e-05	0.0001	4.518e-05	3.453e-05	0.0001	3.129e-05	2.861e-05	4.364e-05	2.77e-05	9.008e-05	0.0001	0.0001	0	7.504e-05	0	3.257e-05	8.308e-05	2.323e-05	0.0002	0.0013	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0002	0	0	0.0003	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	116.94	133	chr5	173608292	.	T	TCTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGGTG	116.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-5.744e+00;QD=1.44;ReadPosRankSum=-9.220e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,9:81:99:0|1:173608288_G_A:131,0,2970:173608288	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:20,6,0:26:99:172,0,769,232,787,1018	14	0	6	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,46,0:98:99:0|1:179522611_C_T:1764,0,2045,1921,2183,4104:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,46,0:98:99:0|1:179522611_C_T:1764,0,2045,1921,2183,4104:179522611	9	3	5	3
chr5	179643149	179643149	C	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.G403T:p.G135W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	N	1.24	L	0.15	T	-0.864	T	0.241	T	0.315	1.090	9.450	-0.376	-0.160	0.399	.	0.102	0.0106743411658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.08975	N	1.545	0.39105	L	.	.	.	.	.	.	.	.	-0.8643	0.50952	T	0.241	0.60869	T	8	0.2428211	0.41485	T	0.010674	0.27473	T	.	.	0.383	0.40134	.	.	0.02819601404017556	0.02769	.	.	.	.	.	.	.	.	-0.0935336	0.37493	T	-0.372131	0.36639	T	0.874239239196363	0.52409	D	0.489451	0.15024	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	.	.	.	.	.	0.001373	0.04291	1.077	0.98492337241095862	0.42108	0.00262	0.01432	N	AEFBI	0.052628	0.09412	N	-0.525036336654505	0.21272	1.12773	-0.84092631791393	0.13506	0.7009747	1.20857068607466E-5	0.02871	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.702	-0.376	0.11883	0.936000	0.28536	-3.694000	0.02600	-0.425000	0.05218	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	522.15	21	chr5	179643149	.	C	A	522.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=645;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=41.95;MQRankSum=-1.623e+00;QD=13.74;ReadPosRankSum=0.881;SOR=1.012	GT:AD:DP:GQ:PL	0/1:21,17:38:99:536,0,706	20	0	1	0
chr5	179774297	179774297	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2471T:p.P824L,	.	.	425	1069	25	3	0	31	0.0142923	.	.	699038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.14	B	0.014	B	0.022	N	0.908	N	0	N	1.95	T	-1.050	T	0.018	T	0.06	0.567	7.063	0.661	0.225	2.609	13.527	0.042	.	0.0081	0.00379393	0.0079	0.0021	0.0049	0.0001	0.0089	0.0121	0.0079	0.0010	0.0082729	1279	154602	rs61753466	0.0099	0.0099	0.0101	0.0096	0.0139	0.0097	0.0097	0.0114	0.0112	0.0016	0.0051	0.0084	0.0019	0.0077	0.0139	0.0114	0.0089	0.0013	0.0073	0.0073	0.0079	0.0067	0.0115	0.0069	0.0068	0.0109	0.0106	0.0020	0.0077	0.0054	0.0061	0.0002	0.0091	0.0272	0.0115	0.0090	0.0010	0.016	0.51853	D	0.141	0.33442	T	0.14	0.27540	B	0.014	0.16862	B	0.021575	0.26806	N	0.360529	0.90788	0.27569	N	1.1	0.28011	L	1.95	0.22474	T	-1.56	0.37759	N	0.15	0.15328	-1.0499	0.14425	T	0.018	0.07423	T	10	0.0033201277	0.00057	T	.	.	.	0.042	0.11227	.	.	0.110392049598	0.10638	0.21418346042024294	0.21334	0.125099360097	0.14101	0.293613195419	0.09451	T	0.341973	0.71081	T	-0.620466	0.00109	T	-0.652356	0.08790	T	0.0153146781190649	0.00339	T	.	.	.	0.04226435	0.06378	0.052958187	0.08829	0.04226435	0.06377	0.052958187	0.08828	-4.249	0.27455	T	.	.	0.086	0.10594	B	.	.	2.096629	0.26672	17.20	0.8690216223610614	0.16851	0.71167	0.34897	D	AEFDBI	0.034060	0.04154	N	-0.777018038746771	0.13910	0.6887983	-0.664925945783745	0.17841	0.9504084	0.999914810423061	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	0.661	0.17044	2.383000	0.44008	3.954000	0.40696	-0.136000	0.12710	1.000000	0.71638	0.997000	0.33255	0.108000	0.18652	0.6005:0.3995:0.0:0.0	13.527	0.61057	882	0.29131	.	.	.	.	.	.	Likely benign	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	0.02381	1686.98	34	chr5	179774297	.	C	T	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.22;DP=898;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-4.730e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:88,60:148:99:1701,0,2291	20	0	1	0
chr5	181059404	181059404	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1150T:p.H384Y,	.	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.204	B	0.78	P	0.049	U	1.000	N	2.355	M	-0.33	T	-0.322	T	0.270	T	0.631	4.096	21.1	4.71	2.365	2.310	15.578	0.462	.	.	0.00379393	0.0091	0.0046	0	0	0	0.0074	0	0.0102	0.00174	269	154602	rs186444058	0.0093	0.0089	0.0093	0.0093	0.0104	0.0092	0.0091	0.0102	0.0102	0.0010	0.0047	0.0069	6.055e-05	0.0063	0.0077	0.0104	0.0071	0.0071	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0095	0.0093	0.0016	0.0033	0.0062	0.0072	0.0002	0.0073	0.0068	0.0102	0.0052	0.0056	0.0	0.91255	D	0.0	0.92824	D	0.204	0.29802	B	0.78	0.57283	P	0.049449	0.23159	U	0.217602	0.804617	0.29074	N	2.155	0.60227	M	-0.33	0.68329	T	-4.77	0.80425	D	0.491	0.52475	-0.3221	0.74363	T	0.270	0.64204	T	10	0.011678845	0.00254	T	.	.	.	0.462	0.75889	.	.	0.786551924775	0.78457	0.5107423983958618	0.50996	0.984627870661	0.73861	0.872152686119	0.92875	D	0.224	0.58830	T	-0.26595	0.12213	T	-0.146833	0.59525	T	0.0459653985849032	0.04777	T	0.925307	0.72522	D	0.790044	0.83275	0.8463283	0.91258	0.790044	0.83277	0.8463283	0.91259	-9.251	0.69299	D	.	.	0.138	0.30184	B	.	.	3.493665	0.48848	22.7	0.99665024118694867	0.78202	0.68061	0.33661	D	AEFDBHI	0.443193	0.50061	N	0.200396882495283	0.51219	3.304896	0.213521098429424	0.50598	3.250084	0.999999630721595	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	1.138000	0.31103	4.644000	0.44168	0.454000	0.21428	0.314000	0.25450	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	15.578	0.76153	.	.	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	rs186444058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1917.11	48	chr5	181059404	.	C	T	1917.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.98;DP=1094;ExcessHet=0.1072;FS=3.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-5.850e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1056,0,1322	19	0	2	0
chr6	7231434	7231436	CCA	-	exonic	RREB1	.	nonframeshift deletion	RREB1:NM_001003698:exon10:c.3335_3337del:p.T1114del	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0002	0.00011	17	154602	rs769732144	0.0001	0.0001	0.0001	0.0001	0.0014	8.924e-05	8.408e-05	0.0007	0.0005	5.977e-05	0.0005	0	0	1.903e-05	0.0014	7.286e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0.0068	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2686.94	69	chr6	7231433	.	GCCA	G	2686.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=1379;ExcessHet=0.0000;FS=1.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.22;ReadPosRankSum=-7.940e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/1:82,74:156:99:2701,0,3154	20	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.898	P	0.352	B	0.000	D	1.000	D	0	N	3.34	T	-0.753	T	0.007	T	0.514	4.428	23.5	5.62	2.648	8.682	18.632	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1333	104.37	43	chr6	7411419	.	G	C	104.37	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.187e+00;DP=1695;ExcessHet=0.6776;FS=158.280;InbreedingCoeff=-0.2215;MLEAC=5;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.406;SOR=10.867	GT:AD:DP:GQ:PL	0/1:63,22:85:25:25,0,884	11	0	4	6
chr6	16327663	16327663	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCA:p.Q215_Q216insH	Spinocerebellar ataxia 1, Autosomal dominant	.	5	1457	32	0	28	60	0.0108622	.	.	3203057	ATXN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0.0030	0	2.698e-05	0	0.0003	6.5e-06	1	154602	rs766029394	0.0029	0.0032	0.0025	0.0033	0.0637	0.0028	0.0028	0.0614	0.0605	0.0003	0.0032	0.0007	0.0637	0.0012	0.0021	0.0005	0.0035	0.0116	0.0051	0.0059	0.0044	0.0058	0.0947	0.0048	0.0046	0.0862	0.0829	0.0007	0	0.0067	0.0012	0.0947	0.0013	0	0.0019	0.0106	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	690.94	58	chr6	16327663	.	C	CTGA	690.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=1750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=3.63;SOR=0.821	GT:AD:DP:GQ:PL	0/1:41,20:63:99:705,0,1572	20	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	.	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	0.71	T	-1.033	T	0.013	T	0.184	0.138	4.744	.	-2.096	-0.244	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	709	0.56835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	771.98	58	chr6	16327669	.	C	A	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.358e+00;DP=1750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=3.75;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,22:65:99:0|1:16327669_C_A:786,0,1608:16327669	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:22,0,22,0,0,0:44:99:1464,1327,2819,0,1267,1346,1327,2819,1267,2819,1327,2819,1267,2819,2819,1327,2819,1267,2819,2819,2819	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:22,0,22,0,0,0:44:99:1464,1327,2819,0,1267,1346,1327,2819,1267,2819,1327,2819,1267,2819,2819,1327,2819,1267,2819,2819,2819	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:22,0,22,0,0,0:44:99:1464,1327,2819,0,1267,1346,1327,2819,1267,2819,1327,2819,1267,2819,2819,1327,2819,1267,2819,2819,2819	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:34,7,19:60:99:289,156,1303,0,516,460	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:34,7,19:60:99:289,156,1303,0,516,460	2	0	6	2
chr6	27873204	27873204	C	T	exonic	H4C13	.	nonsynonymous SNV	H4C13:NM_003546:exon1:c.G307A:p.G103S,	.	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.000	D	1.000	D	.	.	.	.	-0.422	T	0.312	T	0.636	2.982	15.94	4.49	2.430	7.201	16.667	0.226	.	0.0039	0.00339457	0.0068	0.0010	0.0012	0.0001	0.0048	0.0102	0.0079	0.0044	0.0064488	997	154602	rs45526033	0.0063	0.0063	0.0062	0.0063	0.0101	0.0062	0.0061	0.0080	0.0073	0.0010	0.0017	0.0119	0	0.0066	0.0101	0.0069	0.0057	0.0035	0.0048	0.0048	0.0050	0.0047	0.0074	0.0045	0.0044	0.0069	0.0067	0.0012	0.0230	0.0032	0.0104	0	0.0041	0.0204	0.0074	0.0033	0.0037	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999741	0.48716	D	.	.	.	.	.	.	.	.	.	0.653	0.66358	-0.4222	0.71319	T	0.312	0.68264	T	6	0.007812321	0.00177	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.6635360055952264	0.66290	.	.	0.73140925169	0.71713	T	0.059698	0.31187	T	-0.0568513	0.43396	T	0.151958	0.80307	D	0.0600398676424806	0.07176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.524533	0.49421	22.8	0.99048207168593982	0.51185	0.95945	0.66836	D	ALL	0.862432	0.78072	D	0.270502246397553	0.54660	3.631068	0.266824308157461	0.53611	3.52935	0.999999999999999	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.171818	0.04044	3	0.249971	0.05119	0	.	.	4.49	4.49	0.54177	7.365000	0.78793	3.709000	0.39550	0.594000	0.32500	1.000000	0.71638	0.994000	0.32194	0.024000	0.12247	0.0:1.0:0.0:0.0	16.667	0.85114	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1807.98	36	chr6	27873204	.	C	T	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=894;ExcessHet=0.0000;FS=5.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-3.900e-01;SOR=1.111	GT:AD:DP:GQ:PL	0/1:121,72:193:99:1822,0,3010	20	0	1	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,53,0:92:99:1|0:29942975_G_C:2088,0,1478,2205,1638,3843:29942975	3	4	8	2
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,31,0:93:99:.:.:958,0,1816,1144,1909,3054	6	0	13	1
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S,	.	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.002	B	0.0	B	.	.	0.679	N	0	N	2.93	T	-0.906	T	0.003	T	0.111	0.125	4.670	-2.07	-0.539	-1.174	3.524	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	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	0.04762	3627.11	89	chr6	31138459	.	G	A	3627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1838;ExcessHet=0.1072;FS=2.666;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.16;SOR=0.551	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1879,0,1504	19	0	2	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	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	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,59,0:157:99:.:.:1278,0,2569,1571,2745,4315	0	13	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,37,0,15:144:99:.:.:1277,0,3663,1559,3792,5397,930,3164,4784,4791	0	0	16	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,13:155:94:0|1:31355338_T_C:94,0,5877:31355338	14	0	6	1
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,113,0:113:99:1|1:31356168_A_C:5085,340,0,5085,340,5085:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:48,50,56:154:70:0|1:31356168_A_C:2313,336,2198,70,0,1932:31356168	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:43,0,34:77:99:0|1:31356407_C_G:1298,1428,3213,0,1785,1683:31356407	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,28,0:96:99:0|1:31356711_C_CGG:971,0,2771,1176,2855,4031:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:68,0,28:96:99:0|1:31356711_C_CGG:971,1176,4031,0,2855,2771:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,30,0:103:99:0|1:31356711_C_CGG:1040,0,2975,1260,3065,4325:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134,0:134:99:1|1:31356747_GCC_G:6010,403,0,6010,403,6010:31356747	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:99,0,87:186:99:0|1:31356809_C_T:3335,3633,7778,0,4146,3884:31356809	0	5	0	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,21:136:99:0|1:31625601_T_C:139,0,3991:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:115,0,21:136:99:0|1:31625601_T_C:139,482,4533,0,4051,3991:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999345	0.46733	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	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	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	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:115,0,21:136:99:0|1:31625601_T_C:139,482,4533,0,4051,3991:31625601	0	0	18	2
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:15,8:23:99:272,0,551	17	1	3	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1234,616,571,623,0,668,1243,622,672,1285,1243,622,672,1285,1285	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1234,616,571,623,0,668,1243,622,672,1285,1243,622,672,1285,1285	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1234,616,571,623,0,668,1243,622,672,1285,1243,622,672,1285,1285	0	1	4	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	0/1:78,86:164:99:2256,0,1914	15	1	5	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,24,0:24:72:1|1:32519613_T_G:1080,72,0,1080,72,1080:32519613	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,23,0:23:69:1|1:32519613_T_G:1035,69,0,1035,69,1035:32519613	8	5	2	5
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:32521957_G_A:2250,2250,2250,151,151,0:32521957	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,0,0,0:41:99:1|1:32521957_G_A:1845,123,0,1845,123,1845,1845,123,1845,1845,1845,123,1845,1845,1845:32521957	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,41:41:99:1|1:32521957_G_A:1845,1845,1845,123,123,0:32521957	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,0,0:41:99:1|1:32521957_G_A:1845,123,0,1845,123,1845,1845,123,1845,1845:32521957	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,22:128:99:0|1:32522086_T_C:576,895,5346,0,4451,4385:32522086	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,126,22,0,0:148:99:.:.:6214,924,544,5291,0,5224,6214,924,5291,6214,6214,924,5291,6214,6214	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,51,6:154:99:0|1:32522157_C_*:1849,0,3919,1890,3821,5944:32522157	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:95,0,51:146:99:0|1:32522157_C_*:1856,2141,6131,0,3989,3836:32522157	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:65,0,36:101:99:.:.:1236,1431,4106,0,2674,2566	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,63,35,0:98:99:.:.:4168,1407,1200,2633,0,2514,4108,1404,2632,4089	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,33,61:94:99:.:.:3992,3959,3949,2564,2564,2462,1357,1356,0,1162	0	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,123,34,0:235:99:0|1:32584151_G_A:4884,0,2864,3699,1807,6869,5125,3235,6955,8376:32584151	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,122,35:231:99:0|1:32584162_G_T:4900,0,2740,3653,1638,6655:32584162	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,70,157:227:99:.:.:9520,6580,6370,2939,0,2635	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:133,0,68,0:237:99:.:.:2454,2855,8420,0,5550,5341,2855,8420,5550,8420	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:133,0,68,0:237:99:.:.:2454,2855,8420,0,5550,5341,2855,8420,5550,8420	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:133,0,68:237:99:.:.:2454,2855,8420,0,5550,5341	10	0	5	1
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:343,38,0:408:99:.:.:563,0,14279,1596,14395,15993	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,36,0:289:99:0|1:32584335_A_G:589,0,10206,1350,10315,11664:32584335	15	0	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,248,0:284:99:1|0:32584335_A_G:10001,0,604,10109,1350,11459:32584335	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,218,0,0:281:99:.:.:8660,0,1820,8849,2475,11324,8849,2475,11324,11324	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,83,20:218:99:.:.:3125,0,4546,2657,3986,7729	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,82,104:186:99:0|1:32584366_C_T:7945,4376,4120,3452,0,3130:32584366	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,38:251:99:0|1:32589684_A_G:944,0,8809:32589684	12	0	9	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,43,54:97:99:0|1:32641436_G_A:4073,2267,2138,1806,0,1643:32641436	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,53,43:96:99:0|1:32641436_G_A:4031,1806,1646,2225,0,2096:32641436	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,49,50:99:99:0|1:32641436_G_A:4247,2106,1952,2053,0,1892:32641436	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,49,49:98:99:0|1:32641436_G_A:4205,2064,1910,2053,0,1895:32641436	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,79,41,0:120:99:.:.:5309,1602,1280,2772,0,2511,5001,1576,2748,4866	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,97,41:138:99:.:.:6380,6133,6090,1754,1753,1420,4089,4087,0,3920	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,97,41:138:99:.:.:6380,6133,6090,1754,1753,1420,4089,4087,0,3920	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,139,19:158:99:.:.:6679,801,379,5746,0,5666	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,25:165:99:0|1:32664926_G_A:628,0,5783:32664926	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,44,35:79:99:.:.:3318,1418,1277,1257,0,1036	1	1	0	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	.	3	1475	43	1	0	45	0.015025	.	.	363959	not_provided|MHC_class_I_deficiency	MedGen:C3661900|MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.029	N	1.000	N	-1.485	N	-0.17	T	-0.842	T	0.106	T	0.421	-0.158	3.227	-6.99	-1.295	0.003	9.966	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	1285.68	37	chr6	32838190	.	A	G	1285.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.913;DP=704;ExcessHet=0.3300;FS=1.472;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-3.690e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:13,20:33:99:450,0,328	18	0	3	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	.	0	1475	46	1	0	48	0.0160107	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Autoinflammatory_syndrome|Proteosome-associated_autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.395	M	0.59	T	-0.033	T	0.384	T	0.367	5.483	35	5.91	2.256	7.118	14.295	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6322.68	40	chr6	32843017	.	T	A	6322.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.07;DP=1067;ExcessHet=0.3300;FS=2.252;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.81;ReadPosRankSum=-8.850e-01;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,52:117:99:0|1:32843015_G_T:1967,0,2542:32843015	18	0	3	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,23:61:99:.:.:174,0,569	3	0	9	9
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,14:151:72:0|1:36291365_A_G:72,0,5459:36291365	15	0	6	0
chr6	41033109	41033109	C	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon4:c.G724A:p.E242K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.025	B	0.003	B	0.526	N	1.000	N	0.345	N	2.55	T	-0.963	T	0.006	T	0.239	-1.260	0.048	2.73	0.274	1.031	7.275	0.034	0.00392198019231	.	.	8.795e-05	0.0001	0.0004	0	0	3.482e-05	0	0.0001	5.82e-05	9	154602	rs773255844	3.15e-05	3.215e-05	2.997e-05	3.304e-05	0.0003	2.415e-05	2.16e-05	0.0002	0.0002	2.989e-05	0.0003	0	0	0	0.0002	1.35e-05	1.659e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	0	0	0.0002	0.895	0.02454	T	0.791	0.04181	T	0.025	0.19245	B	0.003	0.08700	B	0.526352	0.05231	N	1.324110	1	0.08975	N	1.5	0.37844	L	2.55	0.13795	T	-0.07	0.08033	N	0.382	0.42345	-0.9626	0.38684	T	0.006	0.01944	T	10	0.0487386	0.04365	T	0.003922	0.09242	T	0.034	0.08419	0.412	0.44887	0.215109475489	0.21095	0.33316024061081917	0.33229	0.145030752052	0.16392	0.407984286547	0.26177	T	0.002064	0.01471	T	-0.493357	0.00623	T	-0.624483	0.10836	T	0.0106901718769807	0.00150	T	0.727827	0.34232	T	0.03820988	0.05047	0.04286184	0.05203	0.03820988	0.05047	0.04286184	0.05203	-3.644	0.18495	T	.	.	0.090	0.12797	B	.;.	.;.	0.619934	0.09883	6.644	0.48741383082939466	0.04093	0.02769	0.07467	N	AEFDBI	0.056574	0.10468	N	-1.19365718394303	0.05095	0.2314886	-1.14300054630357	0.06894	0.3334347	0.999423208026873	0.39630	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.49	2.73	0.31266	1.062000	0.30164	1.684000	0.28029	-0.182000	0.10109	0.008000	0.17931	0.052000	0.21854	0.000000	0.00833	0.0:0.7184:0.0:0.2816	7.275	0.25451	452	0.79239	.;.	.	.	.	.	.	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	0.02381	1364.98	33	chr6	41033109	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=1.79;SOR=0.636	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1379,0,1076	20	0	1	0
chr6	41192476	41192476	C	T	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon5:c.G917A:p.R306H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.606	P	0.064	B	0.154	N	1.000	N	1.5	L	2.81	T	-0.978	T	0.006	T	0.088	1.656	11.50	-5.84	-1.311	-0.666	5.603	0.029	0.00170969526914	.	0.00139776	0.0006	0	8.922e-05	0	0	1.527e-05	0	0.0040	0.0004916	76	154602	rs541887130	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	2.519e-05	0	0	7.195e-06	0.0003	0.0032	0.0001	0.0001	8.994e-05	0.0002	0.0039	9.739e-05	8.254e-05	0.0026	0.0021	2.407e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0039	0.25	0.17126	T	0.211	0.26631	T	0.606	0.39465	P	0.064	0.27215	B	0.154234	0.02987	N	1.720980	1	0.08975	N	1.795	0.47270	L	2.81	0.10975	T	-0.2	0.10136	N	0.106	0.09066	-0.9783	0.35390	T	0.006	0.01981	T	10	0.0033641458	0.00059	T	0.00171	0.02856	T	0.029	0.06676	0.172	0.07774	0.107399877778	0.10242	0.15784726011360609	0.15705	0.47858477225	0.46929	0.242092818022	0.02981	T	0.005371	0.04821	T	-0.657248	0.00065	T	-0.718024	0.04892	T	0.0209775907533637	0.00798	T	0.523848	0.17156	T	0.015177982	0.00126	0.018123839	0.00047	0.015177982	0.00126	0.018123839	0.00047	-4.342	0.28761	T	.	.	0.127	0.27100	B	.	.	0.771529	0.11413	8.025	0.89252613015960325	0.18638	0.02077	0.06181	N	AEFDBCI	0.025127	0.01667	N	-1.22954935844336	0.04577	0.2068315	-1.4100808901355	0.03151	0.1463972	0.997658112461356	0.35867	0.732398	0.92422	0	0.743671	0.97443	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.23	-5.84	0.02127	-0.433000	0.07017	-0.570000	0.08431	-0.313000	0.06017	0.002000	0.15269	0.000000	0.08366	0.667000	0.33166	0.2626:0.1618:0.0:0.5755	5.603	0.16646	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1697.98	33	chr6	41192476	.	C	T	1697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.087e+00;DP=840;ExcessHet=0.0000;FS=5.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.262;SOR=0.399	GT:AD:DP:GQ:PL	0/1:67,77:144:99:1712,0,1738	20	0	1	0
chr6	46688994	46688994	G	C	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G866C:p.G289A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.026	B	0.027	B	0.036	N	1.000	N	0.895	L	3.13	T	-0.947	T	0.006	T	0.018	-3.132	0.001	-4.01	-0.539	-0.288	12.989	0.052	0.00169885513599	.	.	8.367e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs752265968	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03972	T	1.0	0.01155	T	0.026	0.19406	B	0.027	0.21085	B	0.035671	0.01806	N	2.145470	1	0.08975	N	1.15	0.29295	L	3.13	0.08014	T	0.01	0.06868	N	0.032	0.01911	-0.9472	0.41448	T	0.006	0.01870	T	10	0.050587714	0.04812	T	0.001699	0.02830	T	0.052	0.14661	0.221	0.14371	0.101711395817	0.09552	0.31992137400331105	0.31905	0.0309867176458	0.03205	0.265254259109	0.05533	T	0.022983	0.17620	T	-0.446327	0.01187	T	-0.863409	0.00807	T	0.0416120099706881	0.03984	T	0.617538	0.23656	T	0.031967744	0.03133	0.052076053	0.08507	0.031967744	0.03133	0.052076053	0.08507	-3.831	0.21268	T	.	.	0.081	0.08368	B	.;.	.;.	-0.093148	0.03683	0.745	0.59206385968025088	0.06170	0.10184	0.15760	N	AEFDBI	0.077619	0.15643	N	-1.53264214718695	0.01639	0.07165517	-1.56833697077555	0.01853	0.08442671	6.99180599129081E-4	0.07645	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.34	-4.01	0.03775	-0.076000	0.11374	-0.129000	0.11639	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.166000	0.20848	0.0:0.6478:0.1599:0.1923	12.989	0.58013	508	0.75398	.;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1632.98	33	chr6	46688994	.	G	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1048;ExcessHet=0.0000;FS=4.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-4.030e-01;SOR=0.942	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1647,0,1646	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:34,6,2:42:15:15,0,743,89,696,869	6	0	12	1
chr6	75256109	75256109	G	C	exonic	TMEM30A	.	nonsynonymous SNV	TMEM30A:NM_001143958:exon6:c.C971G:p.T324S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.006	B	0.007	B	0.000	D	0.979	D	-0.205	N	.	.	-1.007	T	0.045	T	0.057	2.374	13.90	5.51	2.611	9.191	19.481	0.170	0.00136452390785	.	.	6.6e-05	0	0	0	0	5.19e-05	0	0.0003	4.53e-05	7	154602	rs758427537	2.903e-05	2.873e-05	2.2e-05	3.614e-05	0.0002	2.174e-05	1.928e-05	0.0001	9.579e-05	0	0	0	0.0002	0	0.0002	1.272e-05	3.346e-05	0.0002	1.316e-05	1.313e-05	0	2.693e-05	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	0.242	0.19710	T	0.31	0.25907	T	0.006	0.13644	B	0.003	0.12992	B	0.000001	0.84330	D	0.098040	0.978565	0.39474	D	-0.345	0.03330	N	.	.	.	0.1	0.05810	N	0.08	0.06990	-1.0072	0.27789	T	0.045	0.19356	T	9	0.08153123	0.13357	T	0.001365	0.01961	T	0.170	0.43303	0.156	0.05964	0.620476206791	0.61740	0.6072220041961444	0.60654	0.494461366654	0.48007	0.593554615974	0.51995	T	0.051761	0.28969	T	-0.412072	0.01925	T	-0.53213	0.19075	T	0.187973715993565	0.19724	T	0.662434	0.27137	T	0.14438339	0.33143	0.17929204	0.40654	0.14438339	0.33143	0.17929204	0.40653	-2.917	0.09736	T	.	.	0.082	0.19639	B	.;.;.	.;.;.	2.455567	0.31623	18.80	0.96391804720678076	0.29654	0.99842	0.99792	D	AEFBI	0.932746	0.92356	D	-0.135794628354604	0.35840	2.063866	0.141406363973524	0.46689	2.910819	0.999999999852451	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	9.319000	0.95469	11.121000	0.86550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.481	0.95001	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2022.08	33	chr6	75256109	.	G	C	2022.08	.	AC=2;AF=0.048;AN=42;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.70;SOR=1.942	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2050,180,0	20	1	0	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,5:33:58:0|1:80007992_G_C:58,142,1078,0,936,921:80007992	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,5:33:58:0|1:80007992_G_C:58,142,1078,0,936,921:80007992	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,5:33:58:0|1:80007992_G_C:58,142,1078,142,1078,1078,0,936,936,921:80007992	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,5:33:58:0|1:80007992_G_C:58,142,1078,142,1078,1078,0,936,936,921:80007992	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,5:33:58:0|1:80007992_G_C:58,142,1078,142,1078,1078,0,936,936,921:80007992	1	0	7	8
chr6	110892809	110892813	GAATG	-	exonic	AMD1	.	frameshift deletion	AMD1:NM_001287216:exon3:c.330_334del:p.G112Efs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1010.94	37	chr6	110892808	.	TGAATG	T	1010.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=777;ExcessHet=0.0000;FS=2.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.82;ReadPosRankSum=0.663;SOR=0.432	GT:AD:DP:GQ:PL	0/1:23,28:51:99:1025,0,882	20	0	1	0
chr6	116922131	116922131	G	C	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon13:c.G1417C:p.V473L,	Mitchell-Riley syndrome, Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.849	P	0.276	B	0.000	D	1.000	D	1.965	M	0.15	T	-0.763	T	0.143	T	0.739	3.190	16.68	5.19	2.434	7.467	18.729	0.296	0.0361949040066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3e-06	3.431e-06	1.546e-06	3.042e-06	0.0002	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0.0002	0	1.821e-05	1.212e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.104	0.38160	T	0.849	0.46879	P	0.276	0.40142	B	0.000004	0.62929	D	0.060969	0.999987	0.54805	D	1.91	0.51138	L	0.15	0.60734	T	-2.45	0.53577	N	0.711	0.71410	-0.7629	0.57248	T	0.143	0.46495	T	10	0.6944088	0.72053	D	0.036195	0.56837	D	0.296	0.61616	0.611	0.74418	0.484985748688	0.48131	0.6107918419179988	0.61011	0.540360582224	0.51234	0.621403098106	0.55928	T	0.587395	0.86581	D	0.12137	0.66509	D	-0.0634365	0.66090	T	0.965342938899994	0.67238	D	0.844016	0.52137	T	0.44952357	0.64010	0.39447236	0.64140	0.44952357	0.64011	0.39447236	0.64140	-10.871	0.78945	D	0.3355813810798721	0.43351	0.448	0.62088	A	.	.	3.251005	0.44415	21.9	0.99446162669960947	0.65021	0.98044	0.79127	D	AEFI	0.932103	0.92195	D	0.516284743275793	0.68053	5.164454	0.572549234458295	0.72979	5.895969	0.815752283593446	0.24435	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	7.583000	0.81848	9.972000	0.82868	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.729	0.91691	381	0.83684	.	.	.	.	.	.	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	0.02381	753.98	38	chr6	116922131	.	G	C	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.954;DP=888;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-8.910e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,32:69:99:768,0,879	20	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.013	B	0.043	N	1.000	D	1.61	L	2.58	T	-0.942	T	0.014	T	0.02	0.297	5.607	-2.89	-0.835	-0.182	10.866	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	61.27	33	chr6	118975984	.	T	C	61.27	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.654e+00;DP=942;ExcessHet=0.6776;FS=108.073;InbreedingCoeff=-0.1017;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.59;SOR=9.553	GT:AD:DP:GQ:PL	0/1:40,13:53:4:4,0,517	17	0	4	0
chr6	123438071	123438071	T	C	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon12:c.A1046G:p.E349G	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	933153	Catecholaminergic_polymorphic_ventricular_tachycardia_1|Cardiovascular_phenotype	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.039	B	0.025	B	0.046	N	0.628	D	0.345	N	-0.29	T	-1.049	T	0.078	T	0.198	1.639	11.44	4.31	1.006	2.039	9.860	0.055	0.0200491416417	.	.	1.382e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs755708624	6.923e-06	8.893e-06	5.501e-06	8.364e-06	0.0004	3.5e-06	2.55e-06	6.173e-05	2.551e-05	0	0	0	2.544e-05	0	0.0004	4.523e-06	1.675e-05	1.215e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.546e-05	0	0	0	0	0	0.0005	0	0.015	0.52492	D	0.041	0.50514	D	0.039	0.21116	B	0.025	0.20508	B	0.045531	0.23528	N	0.365054	0.999998	0.08975	N	0.55	0.14455	N	-0.29	0.67712	T	-2.04	0.46842	N	0.079	0.05414	-1.0493	0.14593	T	0.078	0.30982	T	10	0.1107997	0.20722	T	0.020049	0.42561	T	0.055	0.15663	0.246	0.18139	0.259761712551	0.25597	0.010322602181282283	0.00993	.	.	0.367878586054	0.20527	T	0.186283	0.53953	T	-0.129375	0.31597	T	-0.423615	0.30662	T	0.203846530413706	0.20626	T	0.457954	0.13172	T	0.13275544	0.30901	0.16471963	0.38143	0.13275544	0.30901	0.16471963	0.38142	-3.444	0.15656	T	0.22319322710986106	0.30123	0.094	0.14431	B	.	.	2.083215	0.26494	17.14	0.98495858822054272	0.42156	0.34250	0.25023	N	AEFBI	0.133544	0.25324	N	-0.532277520630635	0.21043	1.113848	-0.4286946567927	0.24159	1.32143	3.71349231208339E-4	0.06745	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	4.31	0.50718	2.264000	0.42959	1.875000	0.29413	0.665000	0.62972	0.686000	0.28494	0.931000	0.28545	0.972000	0.54974	0.0:0.0:0.1721:0.8279	9.860	0.40276	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1277.98	33	chr6	123438071	.	T	C	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.325e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-3.080e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1292,0,1079	20	0	1	0
chr6	127195854	127195854	A	T	exonic	RSPO3	.	nonsynonymous SNV	RSPO3:NM_032784:exon5:c.A666T:p.K222N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.197	B	0.039	B	0.112	N	0.998	N	0.805	L	-1.12	T	-0.971	T	0.078	T	0.28	1.440	10.76	0.585	0.376	1.203	5.403	0.099	0.0360977728686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.994e-07	6.84e-07	1.386e-06	0	9.116e-07	0	0	.	.	0	0	0	0	0	0	9.116e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.04251	T	0.496	0.20164	T	0.005	0.29559	B	0.005	0.23607	B	0.111983	0.19376	N	0.547506	0.997739	0.22531	N	0.895	0.22405	L	-1.12	0.77593	T	-0.8	0.23590	N	0.275	0.33140	-0.9709	0.37009	T	0.078	0.31042	T	10	0.07316971	0.11021	T	0.036098	0.56772	D	0.099	0.28413	0.282	0.23801	0.50343701615	0.49981	0.36914880106757464	0.36828	1.23549493298	0.81448	0.595363974571	0.52251	T	0.19108	0.54582	T	-0.0581563	0.43196	T	-0.321314	0.42431	T	0.261600226163864	0.23385	T	0.749925	0.37107	T	0.06996702	0.15373	0.051610723	0.08339	0.06996702	0.15373	0.051610723	0.08339	-4.562	0.32184	T	.	.	0.180	0.47016	B	.;.	.;.	3.066092	0.41192	21.3	0.99433680720632334	0.64374	0.51565	0.28925	D	AEFBI	0.133729	0.25349	N	-0.596298741707679	0.19056	0.9943863	-0.447491775338288	0.23619	1.28905	0.988748971421372	0.31614	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.65	0.585	0.16611	1.215000	0.32035	4.083000	0.41752	0.691000	0.84096	1.000000	0.71638	0.998000	0.33993	0.968000	0.53726	0.5708:0.1437:0.2855:0.0	5.403	0.15606	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	285.98	24	chr6	127195854	.	A	T	285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=582;ExcessHet=0.0000;FS=2.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.587e+00;SOR=0.252	GT:AD:DP:GQ:PL	0/1:15,12:27:99:300,0,486	20	0	1	0
chr6	138321170	138321170	G	A	exonic	ARFGEF3	.	nonsynonymous SNV	ARFGEF3:NM_020340:exon29:c.G4711A:p.A1571T,	.	.	433	1078	11	0	0	11	0.00507614	.	.	721743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.269	B	0.048	B	0.001	D	0.598	D	1.1	L	0.99	T	-1.063	T	0.053	T	0.423	2.339	13.78	5.67	2.649	4.458	17.946	0.075	.	.	0.00599042	0.0064	0	0	0.0313	0	0.0002	0.0034	0.0171	0.0020181	312	154602	rs3736706	0.0015	0.0015	0.0012	0.0018	0.0238	0.0014	0.0014	0.0225	0.0220	0	0	0	0.0238	1.992e-05	0.0009	0.0001	0.0011	0.0129	0.0008	0.0008	0.0006	0.0011	0.0125	0.0007	0.0007	0.0099	0.0090	7.221e-05	0	0	0	0.0100	0	0	0.0002	0.0005	0.0125	0.07	0.35349	T	0.025	0.56192	D	0.269	0.31731	B	0.048	0.24975	B	0.000845	0.41440	D	0.240000	0.597641	0.32510	D	1.79	0.46772	L	0.99	0.41750	T	-0.61	0.18042	N	0.385	0.42639	-1.0634	0.10926	T	0.053	0.22462	T	10	0.012219518	0.00264	T	.	.	.	0.075	0.21907	.	.	0.357630699053	0.35373	0.20091090986243756	0.20008	0.2888234695	0.31292	0.602076053619	0.53197	T	0.056351	0.30264	T	-0.419934	0.01712	T	-0.364951	0.37479	T	0.0312439744637887	0.02185	T	0.881012	0.60027	D	0.06531595	0.13945	0.10524582	0.25295	0.06531595	0.13945	0.10524582	0.25295	-3.901	0.22318	T	.	.	0.083	0.09045	B	.	.	3.697331	0.52717	23.3	0.99044790541331051	0.51118	0.94451	0.61208	D	AEFBI	0.376173	0.46042	N	-0.095714094316099	0.37579	2.188426	-0.00199161014524374	0.39626	2.352356	0.95703963230451	0.28281	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.67	5.67	0.87673	4.541000	0.60381	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	17.946	0.88958	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	604.98	36	chr6	138321170	.	G	A	604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.724e+00;DP=761;ExcessHet=0.0000;FS=3.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=1.08;SOR=1.099	GT:AD:DP:GQ:PL	0/1:26,28:54:99:619,0,639	20	0	1	0
chr6	159251326	159251326	A	G	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon17:c.A4859G:p.K1620R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.955	D	0.000	D	1.000	D	2.44	M	2.41	T	-0.882	T	0.144	T	0.474	4.836	27.5	5.53	2.112	9.045	15.666	0.185	0.0250941263175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	0.996	0.68779	D	0.955	0.69585	D	0.000006	0.62929	D	0.105732	0.999952	0.52396	D	2.505	0.72935	M	1.47	0.31987	T	-2.67	0.57110	D	0.489	0.52297	-0.8822	0.49585	T	0.144	0.46587	T	9	0.42198247	0.56925	T	0.025094	0.48081	D	0.185	0.45933	0.361	0.36548	0.660628823993	0.65778	0.7608670193722374	0.76034	0.615547688824	0.56032	0.576504349709	0.49593	T	0.209909	0.57025	T	-0.031099	0.47257	T	-0.282448	0.46553	T	0.99550724029541	0.87546	D	0.923908	0.72182	D	0.61229247	0.73351	0.6689565	0.80581	0.61229247	0.73352	0.6689565	0.80582	-6.806	0.52603	T	.	.	0.252	0.48624	B	.	.	4.388254	0.67704	25.1	0.99920197829193302	0.98721	0.99239	0.93282	D	AEFBI	0.944651	0.95199	D	0.781772260350096	0.84953	8.434033	0.761932950262341	0.87046	9.088728	0.99999999999896	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	9.033000	0.93229	11.082000	0.85768	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	1.0:0.0:0.0:0.0	15.666	0.76986	822	0.40702	.	.	.	.	.	.	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	0.02381	2242.98	37	chr6	159251326	.	A	G	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=872;ExcessHet=0.0000;FS=3.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-4.120e-01;SOR=0.480	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2257,0,2234	20	0	1	0
chr6	159251341	159251341	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon17:c.C4874T:p.P1625L,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.965	D	0.000	D	1.000	D	2.44	M	1.34	T	-0.523	T	0.304	T	0.566	4.502	24.2	5.53	2.613	7.575	19.467	0.399	0.118402628517	.	.	8.411e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs749321503	4.105e-05	4.104e-05	4.084e-05	4.126e-05	0.0010	3.245e-05	2.92e-05	0.0005	0.0003	5.974e-05	0	0	2.519e-05	0	0.0010	3.328e-05	0.0001	6.958e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.965	0.71173	D	0.000202	0.47681	D	0.186553	1	0.81001	D	2.505	0.72935	M	0.35	0.58029	T	-9.11	0.98187	D	0.72	0.72209	-0.5232	0.67796	T	0.304	0.67510	T	9	0.8181764	0.81040	D	0.118403	0.79843	D	0.399	0.71321	.	.	0.826353836488	0.82470	0.6793642122708015	0.67875	0.685193011748	0.60274	0.717677414417	0.69708	T	0.162596	0.50732	T	-0.0706082	0.41229	T	-0.170072	0.57437	T	0.996981084346771	0.90511	D	0.936706	0.76258	D	0.74884766	0.80801	0.5904003	0.76234	0.74884766	0.80803	0.5904003	0.76235	-10.042	0.74163	D	.	.	0.808	0.77674	P	.	.	4.487451	0.70070	25.5	0.99888239048802951	0.96281	0.96630	0.70109	D	AEFBI	0.801343	0.72708	D	0.611559759989104	0.73903	6.043001	0.52469583948648	0.69655	5.391638	1.0	0.98316	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	7.661000	0.82776	7.583000	0.61020	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:1.0:0.0:0.0	19.467	0.94938	822	0.40702	.	.	.	.	.	.	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	0.02381	2357.98	37	chr6	159251341	.	C	T	2357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=888;ExcessHet=0.0000;FS=1.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.593;SOR=0.548	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2372,0,2209	20	0	1	0
chr6	159778764	159778764	C	T	exonic	ACAT2	.	nonsynonymous SNV	ACAT2:NM_001303253:exon9:c.C1216T:p.R406C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.457	P	0.056	B	0.000	N	1.000	D	2.135	M	-1.81	D	-0.138	T	0.394	T	0.717	1.980	12.58	5.05	1.497	3.627	14.067	0.624	0.202809008355	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs749540167	1.437e-05	1.437e-05	1.225e-05	1.65e-05	2.519e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	0	0	0	2.519e-05	0	0	1.529e-05	1.656e-05	2.319e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.028	0.46129	D	0.066	0.44501	T	0.156	0.28196	B	0.035	0.22741	B	0.000168	0.48594	N	0.181085	0.999974	0.81001	D	3.12	0.87914	M	-1.81	0.83970	D	-5.57	0.86372	D	0.617	0.63289	-0.1375	0.79226	T	0.394	0.74692	T	10	0.79619753	0.79092	D	0.202809	0.86841	D	0.624	0.85459	.	.	0.906351920082	0.90541	0.8551953003976276	0.85482	0.177925372043	0.20020	0.457792580128	0.33008	T	0.826318	0.95807	D	0.201619	0.74043	D	0.067321	0.74731	D	0.973870396614075	0.70275	D	0.919408	0.70943	D	0.438637	0.63314	0.22879978	0.47932	0.438637	0.63315	0.22879978	0.47931	-6.074	0.46894	T	.	.	0.190	0.40889	B	.	.	3.888879	0.56570	23.8	0.99261288912183776	0.57222	0.93403	0.58124	D	AEFDBHCI	0.831448	0.74998	D	0.0612312749397872	0.44661	2.73607	0.148818773565674	0.47078	2.943614	0.99999996682804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.05	0.67566	3.668000	0.54290	3.202000	0.36756	0.599000	0.40250	0.994000	0.38300	0.997000	0.33255	0.667000	0.33166	0.2746:0.7254:0.0:0.0	14.067	0.64361	820	0.40914	Thiolase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	38	chr6	159778764	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.539;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-4.550e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1394,0,1561	20	0	1	0
chr6	159906971	159906971	G	A	exonic	MAS1	.	nonsynonymous SNV	MAS1:NM_001366704:exon2:c.G16A:p.V6M	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.007	B	0.004	B	0.172	N	1.000	N	0	N	2.06	T	-0.972	T	0.009	T	0.048	1.471	10.86	-3.4	-0.529	-0.265	7.261	0.001	0.0111567256796	7.7e-05	0.000199681	0.0002	0.0004	0.0003	0.0001	0	7.599e-05	0	0.0003	0.0001294	20	154602	rs369549897	6.467e-05	6.567e-05	4.642e-05	8.32e-05	0.0005	5.392e-05	5.004e-05	0.0003	0.0003	0.0003	0.0004	0	0	0	0.0005	1.81e-05	3.333e-05	0.0005	0.0002	0.0002	0.0001	0.0003	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0003	0	0	0	0	2.94e-05	0.0005	0.0004	0.213	0.19430	T	0.231	0.25061	T	0.007	0.14184	B	0.004	0.10090	B	0.171620	0.03115	N	1.881840	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.08	0.08187	N	0.024	0.00445	-0.9721	0.36755	T	0.009	0.03140	T	10	0.012536883	0.00269	T	0.011157	0.28497	T	0.001	0.00016	.	.	0.119812018005	0.11559	0.27812592636027456	0.27725	0.103091269234	0.11663	0.284965395927	0.08194	T	0.071031	0.34108	T	-0.623614	0.00104	T	-0.790824	0.02142	T	0.00527499010786414	0.00057	T	0.561544	0.19673	T	0.025413515	0.01476	0.034460768	0.02516	0.025413515	0.01476	0.034460768	0.02516	-4.633	0.32583	T	.	.	0.130	0.27762	B	.	.	0.053799	0.04664	1.316	0.91618774123718738	0.20903	0.04719	0.10413	N	AEFBCI	0.044292	0.07108	N	-1.33518752831486	0.03281	0.1462925	-1.35700809667662	0.03723	0.174296	6.44487907773474E-4	0.07527	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-3.4	0.04549	-0.008000	0.12724	-1.363000	0.05617	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3753:0.337:0.2877:0.0	7.261	0.25379	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1282.98	38	chr6	159906971	.	G	A	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.25;DP=825;ExcessHet=0.0000;FS=4.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.881;SOR=1.163	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1297,0,1677	20	0	1	0
chr6	160061927	160061927	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon25:c.C3581T:p.S1194L,	Hepatocellular carcinoma, somatic	.	425	1092	5	0	0	5	0.00228415	0.3354	0.306	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.529	P	0.063	B	0.053	N	1.000	D	0.97	L	3.88	T	-0.778	T	0.003	T	0.248	2.117	13.04	4.61	1.411	0.424	4.856	0.068	.	0.0004	0.00279553	0.0016	0	0	0.0186	0.0006	0.0003	0	0.0006	0.0014489	224	154602	rs117358940	0.0009	0.0009	0.0009	0.0009	0.0244	0.0009	0.0009	0.0231	0.0226	0	2.236e-05	0	0.0244	0.0006	0.0005	0.0002	0.0008	0.0005	0.0008	0.0008	0.0006	0.0009	0.0182	0.0007	0.0006	0.0152	0.0141	2.408e-05	0	0	0	0.0182	9.427e-05	0	0.0003	0.0010	0.0002	0.332	0.13045	T	0.26	0.23029	T	0.529	0.37682	P	0.063	0.27082	B	0.053465	0.22806	N	0.476779	1	0.81001	D	.	.	.	3.88	0.03570	T	-1.31	0.32791	N	0.096	0.07673	-0.7783	0.56398	T	0.003	0.00994	T	10	0.0069360137	0.00158	T	.	.	.	0.068	0.19811	.	.	0.278043722374	0.27408	0.3095039995628523	0.30863	0.374604463847	0.38924	0.358945429325	0.19232	T	0.081147	0.36528	T	-0.565246	0.00236	T	-0.569776	0.15470	T	0.0362030363341509	0.03016	T	0.769823	0.39947	T	0.1089114	0.25749	0.06633822	0.13575	0.116627194	0.27504	0.09544075	0.22636	-5.502	0.41886	T	.	.	0.080	0.07889	B	.;.	.;.	2.651063	0.34516	19.65	0.99657765565020362	0.77757	0.34461	0.25073	N	AEFBI	0.077738	0.15668	N	-0.270123582060095	0.30308	1.68869	-0.188001502120474	0.31976	1.814743	0.567399276580451	0.21464	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.61	0.56724	0.629000	0.24229	1.017000	0.23376	0.599000	0.40250	0.085000	0.22462	0.481000	0.25102	0.916000	0.45140	0.1562:0.6133:0.1505:0.08	4.856	0.12922	759	0.50631	.;.	.	.	.	.	.	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	0.02381	1079.98	33	chr6	160061927	.	C	T	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=827;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=1.24;SOR=0.569	GT:AD:DP:GQ:PL	0/1:72,46:118:99:1094,0,1760	20	0	1	0
chr6	160122197	160122197	T	C	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.T262C:p.C88R	.	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.92	H	-1.15	T	0.803	D	0.757	D	0.938	3.617	18.41	5.5	2.086	7.397	15.608	0.884	0.372545883564	0.0026	0.000599042	0.0022	0.0006	0.0006	0	0.0006	0.0034	0.0045	0.0011	0.0021345	330	154602	rs55918055	0.0027	0.0027	0.0027	0.0027	0.0056	0.0026	0.0026	0.0040	0.0035	0.0004	0.0009	0.0029	0	0.0009	0.0056	0.0031	0.0034	0.0013	0.0018	0.0018	0.0019	0.0018	0.0031	0.0016	0.0016	0.0028	0.0027	0.0003	0	0.0018	0.0014	0	0.0008	0.0102	0.0031	0.0019	0.0008	0.0	0.91255	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	3.8	0.95404	H	-1.15	0.80730	T	-10.74	0.99367	D	0.921	0.92901	0.803	0.94454	D	0.757	0.91735	D	10	0.4071395	0.55971	T	0.372546	0.92781	D	0.884	0.96614	.	.	0.650362002609	0.64745	0.944871037429589	0.94469	0.81086799148	0.66720	0.79184615612	0.80724	T	0.72055	0.92099	D	0.140623	0.68384	D	0.426797	0.92954	D	0.20658478140831	0.20774	T	0.785321	0.42297	T	0.9801025	0.99118	0.9777043	0.99753	0.9801025	0.99118	0.9777043	0.99754	-8.773	0.66224	D	.	.	0.888	0.82022	P	.;.;.;.	.;.;.;.	4.285761	0.65326	24.8	0.99676539987292223	0.78977	0.99470	0.96426	D	AEFDBI	0.973551	0.99502	D	0.898960480952529	0.91708	11.02287	0.790086601173094	0.89097	9.836575	0.999999942161984	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.376000	0.78918	7.635000	0.62917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:0.0:0.0:1.0	15.608	0.76443	560	0.71333	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.04762	2006.11	42	chr6	160122197	.	T	C	2006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.170e-01;DP=916;ExcessHet=0.1072;FS=1.110;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=0.989;SOR=0.595	GT:AD:DP:GQ:PL	0/1:54,33:87:99:754,0,1515	19	0	2	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27,0:82:99:1|0:170561925_A_ACAG:924,0,1676,1090,1761,2850:170561925	1	15	4	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,0,36:98:99:.:.:1034,1242,4683,0,2624,2363	1	1	3	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,9:30:4:.:.:4,0,356	5	0	14	2
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C	.	.	428	1011	77	6	0	89	0.0421601	.	.	457959	Emery-Dreifuss_muscular_dystrophy|not_provided|SUN1-related_disorder	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	1.83	L	1.86	T	-0.730	T	0.157	T	0.885	3.327	17.19	4.75	1.503	3.162	16.949	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, 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	0.02381	1129.98	39	chr7	851463	.	G	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.496e+00;DP=1139;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.252;SOR=0.597	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1144,0,1356	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,19,0:32:99:.:.:415,0,312,454,368,822	0	6	14	0
chr7	5388814	5388814	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.C1010T:p.P337L,	.	.	388	1128	6	0	0	6	0.00265252	.	.	722582	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.01	B	0.004	B	.	.	0.560	N	0.805	L	2.71	T	-0.962	T	0.021	T	0.299	0.869	8.523	2.06	0.673	0.366	9.844	0.024	0.322948488235	.	0.00119808	0	.	.	.	0	.	.	0	0.0012294	32	26028	rs557962394	0.0034	0.0029	0.0035	0.0033	0.0059	0.0033	0.0033	0.0036	0.0032	0.0005	0.0021	0.0316	5.484e-05	0.0005	0.0059	0.0033	0.0043	0.0006	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0003	0.0022	0.0019	0.0298	0	0.0007	0.0069	0.0032	0.0043	0.0008	0.021	0.49613	D	0.138	0.33780	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.991	0.24122	N	0.695	0.17993	N	2.71	0.12055	T	-1.98	0.45769	N	0.306	0.34552	-0.9624	0.38723	T	0.021	0.08963	T	9	0.006262839	0.00141	T	0.322948	0.91528	D	0.024	0.04979	.	.	.	.	0.1066599531955589	0.10595	2.02942043651	0.94063	0.8397564888	0.88058	D	0.010251	0.09270	T	-0.553295	0.00279	T	-0.553266	0.17013	T	0.0659644716839945	0.08072	T	0.518548	0.16835	T	0.0373426	0.04771	0.095098324	0.22539	0.0373426	0.04770	0.095098324	0.22539	-4.705	0.33465	T	.	.	0.101	0.17742	B	.;.	.;.	1.961594	0.24919	16.57	0.96237921489727196	0.29141	0.03828	0.09172	N	AEFDBCI	0.028662	0.02568	N	-0.885229577202427	0.11194	0.5388487	-0.843176184922383	0.13451	0.6978884	0.0147879454883753	0.12638	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.94	2.06	0.25932	1.696000	0.37392	5.806000	0.49972	-0.232000	0.07691	0.933000	0.32380	1.000000	0.68203	0.070000	0.16646	0.1739:0.0:0.8261:0.0	9.844	0.40186	893	0.26510	.;.	.	.	.	.	.	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	0.02381	555.99	18	chr7	5388814	.	G	A	555.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=435;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0255;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=2.07;SOR=0.673	GT:AD:DP:GQ:PL	0/1:19,22:41:99:570,0,533	20	0	1	0
chr7	6036129	6036129	C	A	exonic	ANKRD61	.	nonsynonymous SNV	ANKRD61:NM_001271700:exon3:c.C1000A:p.L334I,	.	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	D	.	.	1.06	T	-0.955	T	0.091	T	0.669	1.710	11.68	3.71	0.691	0.060	8.519	0.219	.	.	0.00359425	0.0056	0.0021	0.0102	0.0021	0.0141	0.0103	0.0095	0.0008	0.0020246	313	154602	rs117715040	0.0089	0.0085	0.0090	0.0087	0.0130	0.0087	0.0087	0.0106	0.0097	0.0011	0.0058	0.0141	2.798e-05	0.0146	0.0130	0.0097	0.0083	0.0008	0.0064	0.0064	0.0062	0.0067	0.0084	0.0061	0.0060	0.0078	0.0076	0.0022	0.0033	0.0041	0.0156	0.0002	0.0160	0.0408	0.0084	0.0062	0.0008	0.0	0.91255	D	0.02	0.58613	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.999825	0.49512	D	2.75	0.80375	M	1.06	0.39781	T	-1.15	0.29525	N	0.431	0.47022	-0.9550	0.40096	T	0.091	0.34955	T	7	0.009520173	0.00215	T	.	.	.	0.219	0.51417	.	.	0.146414634003	0.14194	0.4042201142318326	0.40338	.	.	0.525072216988	0.42340	T	0.016966	0.13922	T	-0.250482	0.14039	T	-0.121545	0.61675	T	0.113345832179516	0.13767	T	0.522448	0.17034	T	0.43481648	0.63067	0.5732601	0.75283	0.43481648	0.63068	0.5732601	0.75284	-6.161	0.47607	T	.	.	0.171	0.37558	B	.	.	2.106957	0.26808	17.25	0.99352550740671919	0.60656	0.82184	0.41451	D	AEFBI	0.143616	0.26636	N	-0.231731538815071	0.31839	1.789343	-0.304273811030339	0.27961	1.555316	0.023710298744365	0.13526	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.49	3.71	0.41733	0.079000	0.14636	.	.	0.599000	0.40250	0.919000	0.31930	0.000000	0.08366	0.091000	0.17840	0.0:0.7441:0.0:0.2559	8.519	0.32423	692	0.58729	Ankyrin repeat-containing domain	PMS2|CCZ1B	Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	CCZ1B|CCZ1B	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs117715040	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2097.98	35	chr7	6036129	.	C	A	2097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.833e+00;DP=899;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.920e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:104,86:190:99:2112,0,2763	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/1:0,23,0,0,0,0,0:23:70:1029,70,0,1029,70,1029,1029,70,1029,1029,1029,70,1029,1029,1029,1029,70,1029,1029,1029,1029,1029,70,1029,1029,1029,1029,1029	1	3	5	0
chr7	11543106	11543106	T	C	exonic	THSD7A	.	nonsynonymous SNV	THSD7A:NM_015204:exon5:c.A1465G:p.M489V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.987	N	-3.145	N	0.29	T	-0.996	T	0.021	T	0.126	-0.402	2.117	4.91	1.590	4.642	15.474	0.135	0.00581413233594	0.0009	0.000798722	0.0004	0.0048	8.652e-05	0	0	0	0	0	0.0003687	57	154602	rs138036985	0.0001	0.0001	0.0001	9.373e-05	0.0038	9.133e-05	8.662e-05	0.0032	0.0030	0.0038	0.0002	0	0	0	0	6.302e-06	0.0002	0	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0015	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.103111	0.986619	0.24599	N	-2.84	0.00021	N	0.29	0.58897	T	1.76	0.00537	N	0.258	0.29197	-0.9957	0.31109	T	0.021	0.09009	T	10	0.00421685	0.00084	T	0.005814	0.15101	T	0.135	0.36572	.	.	0.043077524339	0.03247	0.30871569046603464	0.30784	0.0437940796917	0.04719	0.417300999165	0.27466	T	0.015367	0.12902	T	-0.521241	0.00433	T	-0.5211	0.20182	T	0.0095576643816003	0.00124	T	0.433757	0.11839	T	0.15369938	0.34825	0.15548	0.36444	0.15369938	0.34825	0.15548	0.36443	2.264	0.00040	T	.	.	0.045	0.00051	B	.;.	.;.	1.909121	0.24245	16.33	0.41569062878856677	0.03008	0.20872	0.21199	N	AEFGBI	0.084564	0.17139	N	-0.866213194570826	0.11653	0.5635405	-0.477150340240966	0.22784	1.23927	0.885353813023549	0.25716	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.78	4.91	0.63897	4.750000	0.61857	5.927000	0.51257	-0.237000	0.07570	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.9333:0.0:0.0667	15.474	0.75196	923	0.18507	.;.	.	.	.	.	.	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	0.02381	695.98	37	chr7	11543106	.	T	C	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=763;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-1.251e+00;SOR=0.334	GT:AD:DP:GQ:PL	0/1:41,31:72:99:710,0,1152	20	0	1	0
chr7	21599891	21599891	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon15:c.G2772A:p.M924I,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	522867	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.013	B	0.006	B	0.140	N	0.993	N	.	.	2.01	T	-1.052	T	0.038	T	0.269	1.795	11.96	5.58	2.797	2.360	19.539	0.111	0.00459500448605	.	.	0.0002	0	0	0	0	0.0001	0.0023	0.0006	0.0001164	18	154602	rs766050153	9.927e-05	9.919e-05	8.582e-05	0.0001	0.0012	8.585e-05	8.054e-05	0.0006	0.0004	2.989e-05	2.241e-05	0	2.522e-05	0	0.0012	7.199e-05	0.0002	0.0005	5.92e-05	5.913e-05	6.43e-05	5.386e-05	0.0004	3.08e-05	2.212e-05	7.31e-05	3.036e-05	0	0	0	0	0.0002	9.448e-05	0	4.412e-05	0.0010	0.0004	0.254	0.16903	T	.	.	.	0.013	0.16609	B	0.006	0.12133	B	0.139766	0.18332	N	0.586420	0.993284	0.23740	N	2	0.54354	M	2.01	0.21291	T	-1.52	0.36980	N	0.365	0.40665	-1.0516	0.13954	T	0.038	0.16246	T	9	0.06870806	0.09755	T	0.004595	0.11346	T	0.111	0.31313	0.432	0.48171	0.119812018005	0.11559	0.26186817357771996	0.26099	.	.	0.393619418144	0.24178	T	0.049374	0.28290	T	-0.440894	0.01278	T	-0.513606	0.20944	T	0.0391772867404332	0.03541	T	0.272073	0.04599	T	0.33415732	0.55809	0.48612612	0.70258	0.33415732	0.55809	0.48612612	0.70259	-3.597	0.17813	T	0.3010667175922627	0.39842	0.365	0.57542	A	.;.;.	.;.;.	2.391690	0.30716	18.52	0.97681644710942994	0.35317	0.60875	0.31321	D	AEFBI	0.293356	0.40400	N	-0.223372224453016	0.32175	1.811835	-0.0716540244837278	0.36568	2.129732	0.00290110653193939	0.09788	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	2.550000	0.45472	8.614000	0.77782	0.676000	0.76740	0.289000	0.25224	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.539	0.95259	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1508.98	40	chr7	21599891	.	G	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=793;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-2.299e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1523,0,1052	20	0	1	0
chr7	21617725	21617725	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon23:c.A4202G:p.Q1401R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	0	1473	48	1	0	50	0.0166889	.	.	252688	not_provided|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.949	P	0.697	P	0.000	D	1.000	D	.	.	0.27	T	-0.893	T	0.192	T	0.406	3.639	18.51	4.45	0.966	4.901	10.531	0.237	.	0.0010	0.00259585	0.0026	0	0.0006	0	0	0.0017	0.0034	0.0114	0.0023092	357	154602	rs199629774	0.0016	0.0016	0.0013	0.0019	0.0112	0.0015	0.0015	0.0107	0.0104	0.0003	0.0003	0.0049	2.519e-05	0.0001	0.0101	0.0009	0.0018	0.0112	0.0010	0.0010	0.0008	0.0012	0.0083	0.0009	0.0008	0.0063	0.0055	0.0001	0	0.0006	0.0058	0.0002	0	0.0034	0.0011	0.0005	0.0083	0.083	0.33091	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	.	.	.	0.27	0.59176	T	-3.39	0.66896	D	0.586	0.62950	-0.8927	0.48696	T	0.192	0.54477	T	9	0.010043949	0.00225	T	.	.	.	0.237	0.54074	.	.	0.511503663882	0.50791	0.20893293679731403	0.20809	.	.	0.381819546223	0.22515	T	0.41079	0.76543	T	-0.368029	0.03695	T	-0.291036	0.45666	T	0.0379698708326417	0.03327	T	0.854315	0.54093	D	0.41109198	0.61492	0.391699	0.63934	0.44120803	0.63481	0.39904547	0.64478	-6.735	0.52073	T	0.5885128790951722	0.65531	0.098	0.16099	B	.;.;.	.;.;.	2.859971	0.37787	20.6	0.99761483852063804	0.85091	0.74822	0.36612	D	AEFBCI	0.597612	0.59133	D	0.25268694175051	0.53772	3.544679	0.276227376072199	0.54154	3.581354	0.999999802838549	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.6	4.45	0.53365	5.182000	0.64897	4.171000	0.42274	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.923:0.0:0.077:0.0	10.531	0.44164	669	0.61081	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1288.98	33	chr7	21617725	.	A	G	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=829;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=0.611;SOR=0.836	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1303,0,1741	20	0	1	0
chr7	24687601	24687601	G	T	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon12:c.G1610T:p.S537I	.	.	427	1074	20	1	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.913	P	0.66	P	0.000	D	1.000	D	2.81	M	3.34	T	-1.113	T	0.072	T	0.935	4.432	23.6	5.98	2.834	5.285	20.445	0.350	0.0439885719245	0.0007	0.00179712	0.0020	9.681e-05	0.0003	0	0	0.0011	0.0011	0.0099	0.001837	284	154602	rs142149525	0.0013	0.0014	0.0011	0.0016	0.0141	0.0013	0.0013	0.0116	0.0107	0.0001	0.0007	0.0019	2.537e-05	3.751e-05	0.0141	0.0008	0.0016	0.0102	0.0009	0.0009	0.0007	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0007	0.0012	0	9.439e-05	0.0102	0.0008	0.0033	0.0104	0.001	0.91255	D	0.002	0.79402	D	0.913	0.50474	P	0.66	0.52803	P	0.000001	0.62929	D	0.000000	1	0.81001	D	3	0.85872	M	3.34	0.08194	T	-4.54	0.78472	D	0.624	0.65245	-1.1129	0.02832	T	0.072	0.29195	T	10	0.012391508	0.00266	T	0.043989	0.61262	D	0.350	0.67142	.	.	0.610883664196	0.60775	0.8922022150819102	0.89190	1.14449723415	0.79039	0.701496481895	0.67360	T	0.251316	0.62155	T	-0.0935965	0.37480	T	0.10017	0.76919	D	0.133596318129755	0.15710	T	0.987501	0.95747	D	0.51981324	0.68249	0.6000708	0.76767	0.51981324	0.68250	0.6000708	0.76768	-9.571	0.71301	D	.	.	0.492	0.64695	A	.;.;.	.;.;.	4.461684	0.69446	25.4	0.99564366136587557	0.71953	0.98074	0.79377	D	AEFGBI	0.613563	0.60121	D	0.770493349038317	0.84231	8.230658	0.777722671291852	0.88204	9.495794	0.999999016047173	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	5.389000	0.66004	7.522000	0.59778	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.445	0.99125	613	0.66686	.;.;.	.	.	.	.	.	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	0.02381	479.98	34	chr7	24687601	.	G	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e+00;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-7.630e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/1:28,22:50:99:494,0,756	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,147,0:147:99:.:.:4958,441,0,4958,441,4958	0	18	1	0
chr7	30655662	30655662	A	G	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202482:exon10:c.T968C:p.M323T	.	.	403	1117	1	1	0	3	0.00134108	.	.	2379304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.996	D	0.95	D	0.000	D	1.000	D	1.475	L	1.22	T	-0.971	T	0.155	T	0.871	3.765	19.12	5.11	2.049	9.303	13.158	0.424	0.0165391072663	7.7e-05	.	4.125e-05	0	0	0.0001	0	1.5e-05	0	0.0002	3.23e-05	5	154602	rs373659532	3.215e-05	3.215e-05	3.267e-05	3.163e-05	0.0009	2.478e-05	2.221e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	1.169e-05	6.623e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.984	0.67487	D	0.917	0.68788	D	0.000000	0.84330	D	0.037397	1	0.81001	D	0.99	0.25021	L	1.22	0.37052	T	-3.03	0.62747	D	0.844	0.84922	-0.9710	0.36988	T	0.155	0.48568	T	10	0.70503724	0.72683	D	0.016539	0.37845	T	0.424	0.73226	.	.	0.738048952288	0.73570	0.6963197846827153	0.69572	0.438787105072	0.43904	0.844663619995	0.88806	D	0.261677	0.63318	T	0.0307936	0.55828	T	0.0807561	0.75628	D	0.471743229612136	0.31595	T	0.851115	0.68064	D	0.7905998	0.83310	0.73432237	0.84298	0.7905998	0.83312	0.73432237	0.84299	-9.797	0.74223	D	.	.	0.616	0.71497	P	.;.;.;.	.;.;.;.	4.626426	0.73518	26.0	0.99305417604567625	0.58795	0.98074	0.79377	D	AEFDGBI	0.931783	0.92115	D	0.627470110154281	0.74919	6.215093	0.633344419237174	0.77374	6.667354	0.999999359481349	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	9.290000	0.95109	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.158	0.58949	695	0.58372	.;.;GPCR, family 2-like;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1825.98	35	chr7	30655662	.	A	G	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.334e+00;DP=962;ExcessHet=0.0000;FS=1.081;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-6.200e-02;SOR=0.604	GT:AD:DP:GQ:PL	0/1:122,88:210:99:1840,0,3138	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,70,0:155:99:.:.:1655,0,2274,1910,2479,4388	8	5	7	0
chr7	45074280	45074280	A	G	exonic	CCM2	.	nonsynonymous SNV	CCM2:NM_001167935:exon7:c.A653G:p.K218R	Cerebral cavernous malformations-2, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	1904347	Cerebral_cavernous_malformation_2|CCM2-related_disorder	MONDO:MONDO:0011304,MedGen:C1864041,OMIM:603284,Orphanet:221061|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.994	D	0.000	D	1.000	D	2.08	M	0.95	T	-0.813	T	0.213	T	0.471	3.848	19.55	4.38	0.932	6.311	10.580	0.123	0.0222999986156	.	0.000199681	0.0004	0	8.678e-05	0	0	4.574e-05	0.0011	0.0025	0.0003105	48	154602	rs535112809	0.0002	0.0002	8.443e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	0	0.0001	0.0003	0	0	0.0003	1.709e-05	0.0003	0.0020	8.533e-05	8.53e-05	6.423e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0.0001	0.0012	0	0	0	1.47e-05	0	0.0012	0.21	0.21385	T	0.094	0.39954	T	0.069	0.23796	B	0.043	0.24256	B	0.000000	0.84330	D	0.000000	0.999447	0.48141	D	2.72	0.79541	M	0.95	0.43279	T	-1.7	0.43717	N	0.552	0.72656	-0.8130	0.54368	T	0.213	0.57428	T	10	0.020220488	0.00462	T	0.022	0.45174	T	0.123	0.34020	0.185	0.09388	0.481839736002	0.47815	0.46725758910003895	0.46644	0.897202074903	0.70499	0.637927770615	0.58269	T	0.180566	0.53194	T	-0.380406	0.03098	T	-0.324751	0.42052	T	0.106862617655676	0.13095	T	0.929607	0.76420	D	0.3594364	0.57793	0.20942879	0.45288	0.38879427	0.59946	0.26600584	0.52439	-5.668	0.43880	T	0.36726880359443415	0.46316	0.302	0.58411	B	.;.;.;.;.;.	.;.;.;.;.;.	4.412086	0.68264	25.2	0.99801091825162658	0.88550	0.81224	0.40673	D	AEFDGBCI	0.855395	0.77251	D	0.277585257035882	0.55013	3.665862	0.325707837167268	0.57056	3.870083	0.999999965752277	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.54	4.38	0.52019	6.274000	0.72607	11.071000	0.85588	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.923:0.0:0.077:0.0	10.580	0.44442	726	0.54788	Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain;.;.;Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain;.;Cerebral cavernous malformations 2, harmonin-homology domain|Cerebral cavernous malformations 2, harmonin-homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1615.98	33	chr7	45074280	.	A	G	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=823;ExcessHet=0.0000;FS=4.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.608e+00;SOR=1.078	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1630,0,1652	20	0	1	0
chr7	47369121	47369121	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1525T:p.P509S,	.	.	413	1080	28	1	0	30	0.0136986	.	.	711014	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.075	B	0.027	B	0.202	N	1.000	D	1.61	L	-2.78	D	-0.476	T	0.677	D	0.136	1.310	10.29	0.968	-0.029	0.494	7.135	0.268	0.0547789573645	0.0024	0.000798722	0.0028	0.0007	0.0040	0	0.0002	0.0031	0.0067	0.0041	0.0025032	387	154602	rs139781998	0.0023	0.0023	0.0021	0.0024	0.0208	0.0022	0.0022	0.0178	0.0166	0.0015	0.0033	0.0106	2.519e-05	9.425e-05	0.0208	0.0019	0.0034	0.0045	0.0018	0.0018	0.0019	0.0017	0.0031	0.0016	0.0016	0.0022	0.0021	0.0002	0	0.0016	0.0109	0	9.414e-05	0.0170	0.0025	0.0043	0.0031	0.521	0.16251	T	0.455	0.12776	T	0.075	0.24198	B	0.027	0.21085	B	0.202242	0.03328	N	1.566310	0.920884	0.28340	N	1.61	0.41143	L	-2.78	0.91589	D	-0.62	0.18248	N	0.144	0.14480	-0.4762	0.69505	T	0.677	0.88840	D	10	0.0055606365	0.00123	T	0.054779	0.65984	D	0.268	0.58254	.	.	0.33174030287	0.32783	0.18648739001522333	0.18566	.	.	0.299625277519	0.10345	T	0.055284	0.29963	T	-0.383113	0.02978	T	-0.324248	0.42107	T	0.00297999212123485	0.00031	T	0.865513	0.56452	D	0.031373337	0.02964	0.0399412	0.04203	0.031373337	0.02964	0.0399412	0.04203	-3.167	0.12082	T	.	.	0.07	0.06756	B	.;.	.;.	1.848904	0.23491	16.04	0.95257235972702403	0.26522	0.77706	0.38238	D	AEFDBI	0.237691	0.35994	N	-0.50973592861825	0.21764	1.157413	-0.414355782166396	0.24575	1.346534	0.999947086568722	0.47345	0.562547	0.31514	0	0.588066	0.40923	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.45	0.968	0.18799	0.515000	0.22507	1.729000	0.28315	0.676000	0.76740	0.782000	0.29497	0.978000	0.30204	0.982000	0.59238	0.0:0.3389:0.268:0.3931	7.135	0.24700	899	0.25060	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4080.98	83	chr7	47369121	.	G	A	4080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=1849;ExcessHet=0.0000;FS=3.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.940;SOR=0.511	GT:AD:DP:GQ:PL	0/1:114,158:272:99:4095,0,2852	20	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,11:90:63:0|1:48103308_C_T:63,0,2757:48103308	10	0	9	2
chr7	48272603	48272603	G	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.G2937C:p.Q979H,	.	.	437	1073	11	1	0	13	0.00602131	.	.	722562	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.98	D	0.635	P	0.147	N	1.000	N	1.995	M	-2.28	D	-0.200	T	0.607	D	0.354	0.814	8.274	1.84	0.124	0.549	8.844	0.292	.	0.0015	0.00439297	0.0049	0.0001	0.0019	0.0001	0.0006	0.0023	0.0034	0.0243	0.0041526	642	154602	rs200327749	0.0027	0.0027	0.0020	0.0035	0.0246	0.0027	0.0026	0.0237	0.0233	0.0003	0.0016	0.0014	7.563e-05	0.0006	0.0068	0.0014	0.0025	0.0246	0.0020	0.0020	0.0017	0.0024	0.0224	0.0018	0.0018	0.0190	0.0177	0.0001	0	0.0008	0.0009	0	0.0005	0.0034	0.0024	0.0028	0.0224	0.002	0.72154	D	0.006	0.70582	D	.	.	.	.	.	.	0.147420	0.18081	N	0.462575	1	0.08975	N	.	.	.	-2.28	0.87512	D	-1.41	0.34795	N	0.113	0.10056	-0.2004	0.77661	T	0.607	0.86064	D	10	0.004913777	0.00105	T	.	.	.	0.292	0.61157	0.199	0.11247	0.516381326315	0.51281	0.2571811469139952	0.25632	0.0278542002052	0.02857	0.210208445787	0.00820	T	.	.	.	-0.325212	0.06479	T	-0.221667	0.52576	T	0.0118497070820996	0.00184	T	0.324568	0.06628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.	.	1.065849	0.14476	11.05	0.97054069848551128	0.32163	0.16381	0.19362	N	AEFBI	0.061589	0.11784	N	-0.524323010757289	0.21295	1.129107	-0.701649602738571	0.16920	0.8973089	2.05257292146415E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.67	1.84	0.24348	0.592000	0.23685	0.189000	0.15722	-0.633000	0.04490	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.2951:0.0:0.7049:0.0	8.844	0.34321	701	0.57775	.	.	.	.	.	.	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	0.02381	1883.98	85	chr7	48272603	.	G	C	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1406;ExcessHet=0.0000;FS=2.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.080e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1898,0,2101	20	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	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,43:199:80:.:.:80,0,2360	5	0	11	5
chr7	55846558	55846558	C	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon3:c.G134C:p.R45T,	.	.	430	1048	39	5	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.774	P	0.423	B	0.019	N	0.997	N	1.385	L	1.36	T	-1.062	T	0.058	T	0.218	2.230	13.41	2.38	0.431	0.472	7.127	0.044	.	0.0035	0.0071885	0.0075	0.0007	0.0022	0.0001	0.0142	0.0049	0.0089	0.0266	0.0067787	1048	154602	rs146350220	0.0064	0.0066	0.0057	0.0071	0.0256	0.0063	0.0063	0.0247	0.0244	0.0005	0.0012	0.0078	0	0.0149	0.0155	0.0051	0.0056	0.0256	0.0049	0.0049	0.0038	0.0060	0.0300	0.0046	0.0045	0.0261	0.0245	0.0014	0	0.0017	0.0092	0	0.0161	0.0102	0.0044	0.0043	0.0300	0.001	0.78490	D	0.002	0.79402	D	0.774	0.44062	P	0.423	0.45170	B	0.018620	0.27444	N	0.233204	0.996543	0.22981	N	1.995	0.54099	M	1.36	0.34452	T	-3.34	0.66325	D	0.52	0.55019	-1.0624	0.11166	T	0.058	0.24167	T	10	0.009386629	0.00212	T	.	.	.	0.044	0.11924	.	.	0.457377140028	0.45363	0.618325121068738	0.61765	0.199465451003	0.22341	0.36678853631	0.20370	T	0.088269	0.38122	T	-0.529448	0.00387	T	-0.514368	0.20867	T	0.0379570245532962	0.03324	T	0.970403	0.89360	D	0.22744139	0.45444	0.24017282	0.49385	0.22744139	0.45444	0.24017282	0.49384	-6.304	0.48754	T	.	.	0.162	0.35788	B	.	.	1.156355	0.15446	11.86	0.96980753890656735	0.31859	0.72568	0.35515	D	AEFI	0.273546	0.38893	N	-0.201172272507631	0.33086	1.873169	-0.286955453795462	0.28527	1.591315	3.33323393972252E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.4	2.38	0.28415	0.309000	0.19094	-2.270000	0.03971	0.587000	0.30956	0.616000	0.27880	0.000000	0.08366	0.634000	0.32262	0.0:0.6861:0.0:0.3139	7.127	0.24654	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3418.68	34	chr7	55846558	.	C	G	3418.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.248e+00;DP=908;ExcessHet=0.3300;FS=0.904;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.713;SOR=0.633	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1264,0,871	18	0	3	0
chr7	76058025	76058025	G	T	exonic	MDH2	.	nonsynonymous SNV	MDH2:NM_001282404:exon3:c.G55T:p.A19S	Epileptic encephalopathy, early infantile, 51, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2467958	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.017	B	0.049	B	0.004	N	1.000	N	1.235	L	1.02	T	-0.630	T	0.430	T	0.168	1.757	11.83	1.64	0.433	1.617	5.232	0.026	0.0692402039338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.387e-05	0	0	0	0	0.0006	0	0	0	0	0	0.218	0.26740	T	0.463	0.14412	T	0.012	0.16265	B	0.049	0.25116	B	0.003564	0.34767	N	0.359607	0.999937	0.19363	N	1.07	0.27075	L	1.02	0.87750	T	0.27	0.04613	N	0.177	0.21319	-0.6305	0.63549	T	0.430	0.77193	T	10	0.12916055	0.24573	T	0.06924	0.70675	D	0.026	0.05648	0.453	0.51612	0.838385003735	0.83683	0.3222727092827486	0.32140	0.163663304052	0.18455	0.423031628132	0.28253	T	0.256252	0.62714	T	-0.0439099	0.45366	T	-0.30085	0.44635	T	0.138159334659576	0.16115	T	0.694431	0.32034	T	0.034268145	0.03813	0.04546862	0.06123	0.034268145	0.03812	0.04546862	0.06122	-2.522	0.07593	T	0.10954978046691156	0.09158	0.083	0.10787	B	.;.;.	.;.;.	1.526401	0.19590	14.34	0.94915292328264345	0.25783	0.81728	0.41074	D	AEFDBCIJ	0.592041	0.58790	D	-0.634058847184868	0.17928	0.926702	-0.559099048543837	0.20564	1.108521	0.998997901027343	0.38161	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.64	0.22949	1.685000	0.37277	3.376000	0.37968	-0.114000	0.14653	0.954000	0.33273	0.998000	0.33993	0.732000	0.35165	0.2004:0.0:0.5392:0.2605	5.232	0.14744	616	0.66398	Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	36	chr7	76058025	.	G	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=840;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=-2.183e+00;SOR=0.769	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1304,0,1431	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,27:184:99:.:.:157,0,5592	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,32:184:99:.:.:196,0,5593	2	0	19	0
chr7	99396696	99396696	A	G	exonic	PDAP1	.	nonsynonymous SNV	PDAP1:NM_014891:exon6:c.T532C:p.S178P,	.	.	427	1092	3	0	0	3	0.00137174	.	.	722775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.909	P	0.91	D	0.000	D	1.000	D	1.79	L	.	.	-0.358	T	0.290	T	0.719	4.180	21.6	4.58	2.049	5.877	14.411	0.127	.	0.0010	0.00119808	0.0029	9.612e-05	0.0003	0	0.0138	0.0037	0.0055	0.0005	0.0025744	398	154602	rs146420545	0.0019	0.0019	0.0019	0.0019	0.0016	0.0018	0.0018	0.0015	0.0015	0.0003	0.0002	0.0010	0	0.0140	0	0.0016	0.0017	0.0007	0.0028	0.0028	0.0024	0.0033	0.0030	0.0026	0.0025	0.0027	0.0025	0.0002	0.0471	0.0006	0.0014	0	0.0148	0	0.0030	0.0014	0.0006	0.0	0.91255	D	0.048	0.48594	D	0.909	0.50183	P	0.91	0.64641	D	0.000000	0.84330	D	0.055442	0.999989	0.54805	D	2.2	0.62015	M	.	.	.	-1.17	0.29933	N	0.622	0.63713	-0.3579	0.73325	T	0.290	0.66192	T	9	0.008838624	0.00200	T	.	.	.	0.127	0.34888	.	.	0.545045102275	0.54158	0.5666243198176231	0.56590	1.52269724241	0.87452	0.654085576534	0.60566	T	0.04855	0.28050	T	-0.113221	0.34238	T	0.0656807	0.74621	D	0.0400001861829261	0.03691	T	0.816718	0.47282	T	0.6616543	0.75987	0.65343696	0.79715	0.6616543	0.75989	0.65343696	0.79716	-12.439	0.86924	D	.	.	0.317	0.54309	B	.	.	4.225360	0.63937	24.6	0.99843766680718082	0.92403	0.98276	0.81177	D	AEFBHCI	0.842530	0.75963	D	0.571969803409272	0.71428	5.649613	0.543826426989419	0.70969	5.584047	0.999999285881047	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	5.922000	0.69759	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.411	0.66688	496	0.76301	.	.	.	.	.	chr7:98994319	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	0.02381	1207.98	39	chr7	99396696	.	A	G	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.726;SOR=0.617	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1222,0,1160	20	0	1	0
chr7	100093380	100093380	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon13:c.G1342A:p.V448M	.	.	.	.	.	.	.	.	.	.	.	2778729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.037	B	0.068	B	0.958	N	0.999	N	2.415	M	2.7	T	-0.977	T	0.048	T	0.051	1.261	10.11	4.21	1.060	0.318	6.372	0.114	0.0109095065229	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs377697159	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.18000	T	0.225	0.25514	T	0.037	0.20876	B	0.068	0.27651	B	0.958042	0.07699	N	1.019460	0.999904	0.22098	N	2.65	0.77586	M	2.7	0.12162	T	-1.02	0.28290	N	0.097	0.08646	-0.9774	0.35593	T	0.048	0.20592	T	10	0.145518	0.27601	T	0.01091	0.27979	T	0.114	0.32008	.	.	0.299427821978	0.29548	0.2581082542671685	0.25724	0.304257324427	0.32734	0.322473198175	0.13796	T	0.162558	0.50727	T	-0.346541	0.04947	T	-0.735559	0.04080	T	0.196657925844193	0.20229	T	0.857914	0.58729	D	0.15215948	0.34554	0.076592796	0.16979	0.15215948	0.34553	0.076592796	0.16979	-4.19	0.27853	T	0.2378874110891964	0.32219	0.078	0.08705	B	.;.;.	.;.;.	0.674982	0.10433	7.155	0.99135331596606047	0.53383	0.13968	0.18151	N	AEFDBHCI	0.040900	0.06148	N	-0.617471816444342	0.18420	0.9561375	-0.582555574401467	0.19948	1.072573	0.999999806152595	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.34	4.21	0.48984	0.092000	0.14905	0.304000	0.17011	-1.112000	0.01489	0.003000	0.16062	0.071000	0.22219	0.199000	0.21867	0.0:0.1919:0.0:0.8081	6.372	0.20691	164	0.93620	.;.;MCM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	36	chr7	100093380	.	C	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=889;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.355;SOR=0.995	GT:AD:DP:GQ:PL	0/1:72,81:153:99:1978,0,1703	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,28:132:99:0|1:100175805_G_C:546,0,3909:100175805	0	0	21	0
chr7	100752676	100752801	CACCATCCCCACAGAAAAACCCACCATCTCCCCAGAAAAACTCACCATCCCCACGGAAAAACTCACCATCCCCACGGAAAAACCCACCATCCCCATTGAAGAGACTACCATCTCCACAGAAAAACT	-	exonic	ZAN	.	nonframeshift deletion	ZAN:NM_003386:exon14:c.2571_2696del:p.L871_K912del	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0003	0.0003	0	0.0002	.	.	.	.	0.0014	0.0018	0.0015	0.0014	0.0024	0.0014	0.0013	0.0015	0.0013	0.0003	0.0011	0.0055	0.0004	0.0020	0.0024	0.0014	0.0016	0.0013	0.0044	0.0054	0.0049	0.0039	0.0063	0.0041	0.0040	0.0058	0.0056	0.0018	0.0011	0.0024	0.0079	0.0024	0.0052	0.0296	0.0063	0.0029	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4515.94	34	chr7	100752675	.	CCACCATCCCCACAGAAAAACCCACCATCTCCCCAGAAAAACTCACCATCCCCACGGAAAAACTCACCATCCCCACGGAAAAACCCACCATCCCCATTGAAGAGACTACCATCTCCACAGAAAAACT	C	4515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1290;ExcessHet=0.0000;FS=2.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.50;MQRankSum=-4.163e+00;QD=8.35;ReadPosRankSum=-4.975e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/1:266,275:541:99:4530,0,9864	20	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,100:100:99:1|1:100773849_CCAT_C:4439,4439,4439,301,301,0:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,100,0:100:99:1|1:100773849_CCAT_C:4439,301,0,4439,301,4439:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:515,157,150:822:99:0|1:100952784_C_A:5042,0,21152,294,15326,21467:100952784	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:707,0,39:746:99:.:.:3202,1465,31015,0,29401,29264	6	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:417,57,110:584:99:0|1:100953098_G_C:3364,2225,19564,0,15116,17179:100953098	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:417,104,43:578:99:3112,0,17197,2561,15704,19942	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:412,33,0:445:89:.:.:89,0,16871,1335,16801,18509	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:363,172,0:634:99:.:.:6130,0,14725,7222,15242,22465	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:810,124,0:934:99:0|1:100953486_C_A:2766,0,33617,5204,33991,39195:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:844,88,0:932:99:0|1:100953471_A_C:1114,0,34881,3655,35145,38800:100953471	7	0	10	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:863,152,0:1015:99:.:.:3785,0,35780,6382,36237,42620	3	0	15	0
chr7	100954158	100954158	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2379G:p.I793M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293765468	2.331e-06	6.36e-06	0	4.289e-06	.	0	0	.	.	0	0	0	0	3.334e-05	0	0	0	0	0.0005	0.0039	0.0005	0.0005	0.0017	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0011	0.0003	0	0.0004	0	0.0017	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.08646	.	.	.	.	.	.	.	0.044038594	0.03318	T	.	.	.	.	.	.	.	.	.	0.018937706257390052	0.01847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244176	0.03564	T	.	.	.	.	.	.	.	.	-5.36	0.40533	T	.	.	0.125	0.26263	B	.;.	.;.	0.590388	0.09587	6.363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.012000	0.12637	-7.416000	0.01161	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.04762	643.11	375	chr7	100954158	.	C	G	643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.213e+00;DP=8690;ExcessHet=0.1072;FS=1.024;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.39;MQRankSum=-9.995e+00;QD=0.63;ReadPosRankSum=0.168;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,41:486:99:0|1:100953996_C_A:382,0,18562:100953996	19	0	2	0
chr7	100954168	100954168	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2389T:p.P797S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405297788	4.764e-06	3.975e-05	0	8.796e-06	3.85e-06	7.9e-07	3e-07	.	.	0	0	0	0	3.373e-05	0	3.85e-06	0	0	0.0008	0.0049	0.0006	0.0009	0.0016	0.0006	0.0005	0.0007	0.0005	0.0005	0.0036	0.0016	0.0019	0.0014	0.0003	0	0.0006	0	0.0014	.	.	.	0.251	0.23707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.02861	.	.	.	.	.	.	.	0.049508095	0.04550	T	.	.	.	.	.	.	.	.	.	0.059614147182007055	0.05901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39586	0.09952	T	.	.	.	.	.	.	.	.	-3.669	0.18861	T	.	.	0.158	0.34862	B	.;.	.;.	-0.053016	0.03930	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.780000	0.01872	-4.039000	0.02378	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.04762	616.11	375	chr7	100954168	.	C	T	616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=8699;ExcessHet=0.1072;FS=1.028;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.48;MQRankSum=-1.006e+01;QD=0.60;ReadPosRankSum=-1.780e-01;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,40:492:99:0|1:100953996_C_A:319,0,18859:100953996	19	0	2	0
chr7	100954171	100954176	ACTACG	-	exonic	MUC3A	.	nonframeshift deletion	MUC3A:NM_005960:exon2:c.2392_2397del:p.T798_T799del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173923186	2.375e-06	6.36e-06	0	4.386e-06	.	0	0	.	.	0	0	0	0	3.366e-05	0	0	0	0	0.0005	0.0040	0.0004	0.0005	0.0013	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0013	0.0007	0.0012	0.0003	0	0.0003	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	372.07	375	chr7	100954170	.	CACTACG	C	372.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.800e-01;DP=8735;ExcessHet=0.1072;FS=2.364;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.58;MQRankSum=-1.008e+01;QD=0.35;ReadPosRankSum=-1.200e-02;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:471,38:509:99:0|1:100953996_C_A:178,0,19663:100953996	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:612,80,0:692:99:0|1:100954953_T_A:1517,0,25457,3359,25698,29057:100954953	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:397,114,0:511:99:0|1:100955577_C_T:3593,0,16326,4788,16669,21457:100955577	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,113,29:542:99:0|1:100955577_C_T:3542,0,16455,3527,15577,20235:100955577	3	0	14	1
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:787,61,0:848:99:0|1:100955908_C_T:192,0,32858,2561,33046,35607:100955908	4	0	15	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,74,0:183:99:.:.:1487,0,2662,1811,2882,4693	0	3	5	12
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,265,0:699:99:0|1:100960582_T_A:9730,0,17188,11037,17986,29022:100960582	0	0	15	0
chr7	101000158	101000158	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9595C:p.T3199P,	.	.	320	1201	1	0	0	1	0.000416146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	0	N	2.71	T	-0.976	T	0.014	T	0.078	-0.112	3.452	-1.43	-1.122	-1.133	.	0.024	0.00865523201168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	2.71	0.12162	T	-2.43	0.53258	N	0.075	0.06190	-0.9758	0.35948	T	0.014	0.05417	T	6	0.08608365	0.14596	T	0.008655	0.22854	T	0.024	0.04979	0.121	0.02793	0.0297737177859	0.01360	0.2412312042937645	0.24037	.	.	0.542991995811	0.44869	T	0.051532	0.28907	T	-0.364318	0.03892	T	-0.761094	0.03073	T	0.0616107470080019	0.07420	T	0.152385	0.01298	T	0.1990035	0.41824	0.25693125	0.51401	0.1990035	0.41824	0.25693125	0.51400	-7.725	0.59181	D	.	.	0.137	0.29860	B	.;.	.;.	1.151415	0.15394	11.82	0.33576882905082273	0.02007	0.00096	0.00628	N	AEFBI	0.045773	0.07523	N	-1.12748131504601	0.06158	0.282748	-1.32764797121285	0.04076	0.1915249	3.32026267177474E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-0.391000	0.07383	-5.754000	0.01607	-0.408000	0.05273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	838.98	2589	chr7	101000158	.	A	C	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.30;DP=39136;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.79;MQRankSum=-3.031e+00;QD=0.42;ReadPosRankSum=-8.490e-01;SOR=0.785	GT:AD:DP:GQ:PL	0/1:1803,212:2015:99:853,0,50029	20	0	1	0
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P,	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.985	D	0.429	B	.	.	1.000	N	0.895	L	4.26	T	-0.928	T	0.007	T	0.195	-0.397	2.141	-1.13	-0.266	1.153	3.858	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	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	0.09524	5841.15	510	chr7	101037015	.	A	AC,C	5841.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.073e+00;DP=11424;ExcessHet=0.6776;FS=0.857;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=55.12;MQRankSum=-1.246e+01;QD=1.95;ReadPosRankSum=4.83;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:803,83,0:886:99:0|1:101037012_AG_A:1069,0,33195,3485,33445,36930:101037012	17	0	3	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	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	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/1:67,20:88:95:95,0,1457	11	0	6	4
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:26,27,0:53:99:1036,0,1010,1114,1092,2206	13	1	6	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,22:211:99:0|1:128479325_T_C:355,0,7792:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,22:211:99:0|1:128479325_T_C:355,0,7792:128479325	6	0	9	6
chr7	128854868	128854868	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon41:c.G6992A:p.R2331H	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	194622	not_provided|not_specified|FLNC-related_disorder|Cardiovascular_phenotype|Cardiomyopathy|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5	MedGen:C3661900|MedGen:CN169374|.|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	0.999	D	0.455	N	-1.93	D	0.219	D	0.574	D	0.329	1.931	12.41	5.29	2.451	3.211	12.74	0.399	0.0661231270777	0.0020	0.000599042	0.0019	0.0012	0.0007	0	0.0021	0.0030	0.0011	6.056e-05	0.0019469	301	154602	rs201672146	0.0029	0.0029	0.0029	0.0028	0.0035	0.0028	0.0027	0.0034	0.0033	0.0005	0.0007	7.652e-05	0.0001	0.0016	0	0.0035	0.0027	2.319e-05	0.0016	0.0016	0.0018	0.0015	0.0027	0.0015	0.0014	0.0024	0.0022	0.0009	0	0.0004	0	0	0.0023	0	0.0027	0.0014	0	0.482	0.08609	T	0.365	0.16717	T	0.175	0.90584	B	0.027	0.88582	B	0.000000	0.84330	D	0.000000	0.999389	0.46865	D	0.965	0.23975	L	-1.93	0.84842	D	-2.65	0.58896	D	0.324	0.36464	0.219	0.86223	D	0.574	0.84635	D	10	0.018609494	0.00406	T	0.066123	0.69782	D	0.399	0.71321	.	.	0.78420162893	0.78221	0.5915553317548239	0.59085	1.93917376431	0.93224	0.637266516685	0.58175	T	0.622273	0.88178	D	-0.306039	0.08102	T	-0.210461	0.53652	T	0.0232450858137391	0.01052	T	0.928207	0.73493	D	0.20834325	0.43068	0.116629295	0.28154	0.21599825	0.44047	0.114859946	0.27725	-10.218	0.75206	D	.	.	0.464	0.62888	A	.;.	.;.	4.882914	0.80103	27.2	0.94809879704423938	0.25568	0.93016	0.57114	D	AEFBCI	0.492830	0.52930	N	0.226816330803915	0.52501	3.423966	0.339759257434131	0.57893	3.956952	0.999999997642883	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	3.318000	0.51686	7.596000	0.61403	0.672000	0.70159	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.0859:0.0:0.9141:0.0	12.74	0.56620	619	0.66147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	3832.98	33	chr7	128854868	.	G	A	3832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=1020;ExcessHet=0.0000;FS=0.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.567;SOR=0.625	GT:AD:DP:GQ:PL	0/1:146,154:300:99:3847,0,3546	20	0	1	0
chr7	130680974	130680974	A	C	exonic	TSGA13	.	nonsynonymous SNV	TSGA13:NM_052933:exon4:c.T146G:p.L49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.967	D	0.029	N	1.000	N	1.04	L	.	.	-0.997	T	0.149	T	0.823	1.579	11.23	3.86	0.902	4.003	7.877	0.296	0.00318005228415	0.0008	.	0.0007	0	0	0	0.0021	0.0012	0	0	0.0006986	108	154602	rs139224962	0.0007	0.0007	0.0006	0.0007	0.0007	0.0006	0.0006	0.0007	0.0007	2.987e-05	4.472e-05	0.0011	0	0.0021	0.0003	0.0007	0.0005	0	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	2.412e-05	0	0	0.0012	0	0.0017	0	0.0014	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.967	0.71530	D	0.029175	0.25493	N	0.191293	1	0.08975	N	2.085	0.57729	M	.	.	.	-5.07	0.89534	D	0.717	0.71942	-0.9970	0.30755	T	0.149	0.47610	T	9	0.029405385	0.01068	T	0.00318	0.06966	T	0.296	0.61616	.	.	0.33085137897	0.32697	0.4083775895363053	0.40753	0.173389659189	0.19527	0.559463918209	0.47192	T	0.279331	0.65200	T	-0.0939138	0.37428	T	0.0861557	0.75989	D	0.234481927606483	0.22163	T	0.579442	0.21167	T	0.71794015	0.79047	0.6619948	0.80191	0.71794015	0.79049	0.6619948	0.80192	-4.192	0.26635	T	.	.	0.178	0.50799	B	.;.;.;.	.;.;.;.	3.962798	0.58130	23.9	0.9516530966056479	0.26316	0.71291	0.34950	D	AEFBI	0.200226	0.32697	N	0.0831956920421118	0.45680	2.820476	-0.0392725478160781	0.37959	2.229673	0.978590102456957	0.29938	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.04	3.86	0.43689	4.001000	0.56758	7.954000	0.75900	0.750000	0.87069	0.997000	0.40164	1.000000	0.68203	0.051000	0.15275	0.8165:0.0:0.0:0.1835	7.877	0.28762	933	0.16026	.;.;.;.	.	.	.	.	.	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	0.02381	1644.98	34	chr7	130680974	.	A	C	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.348;DP=856;ExcessHet=0.0000;FS=2.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=1.77;SOR=0.746	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1659,0,1760	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,36,0:36:99:1618,108,0,1618,108,1618	5	3	3	0
chr7	138656485	138656485	G	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon3:c.C41T:p.P14L	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.285	M	-0.25	T	0.790	D	0.784	D	0.938	4.411	23.4	5.07	2.513	6.982	17.586	0.890	0.122216114828	0.0002	.	0.0003	0	0	0	0	0.0005	0.0011	0.0001	0.0003169	49	154602	rs143732886	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0	6.708e-05	0.0009	0	0	0.0014	0.0004	0.0006	6.957e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	4.821e-05	0	6.546e-05	0.0014	0	0	0.0068	0.0004	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048330	1	0.81001	D	3.305	0.90531	M	-1.75	0.83495	D	-8.35	0.98277	D	0.979	0.99100	0.790	0.94293	D	0.784	0.92684	D	10	0.9257494	0.91923	D	0.122216	0.80314	D	0.890	0.96836	.	.	0.921008591492	0.92020	0.9466730599153197	0.94650	0.246328691836	0.27172	0.83469247818	0.87282	D	0.555284	0.85015	D	0.187612	0.72742	D	0.398157	0.92052	D	0.951984107494354	0.63686	D	0.941306	0.78096	D	0.87688994	0.89414	0.7629602	0.85996	0.87688994	0.89415	0.7629602	0.85997	-9.004	0.85416	D	.	.	0.930	0.86040	P	.;.;.	.;.;.	5.183980	0.86922	29.1	0.99848150294638971	0.92750	0.95227	0.63909	D	AEFBI	0.803149	0.72838	D	0.912503721556072	0.92358	11.37795	0.837181810754407	0.92244	11.31668	0.999844214541012	0.43971	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.07	5.07	0.68106	7.486000	0.80232	11.621000	0.93620	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.586	0.87880	917	0.20147	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	612.98	34	chr7	138656485	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=751;ExcessHet=0.0000;FS=3.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.546e+00;SOR=0.590	GT:AD:DP:GQ:PL	0/1:25,26:51:99:627,0,647	20	0	1	0
chr7	140091845	140091845	G	A	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon19:c.C2690T:p.P897L,	.	.	9	1452	60	1	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.317	B	0.018	B	0.000	D	1.000	D	1.04	L	2.61	T	-1.084	T	0.021	T	0.569	3.255	16.92	5.8	2.732	6.155	18.224	0.095	.	0.0020	0.00559105	0.0042	0.0002	0.0011	0.0003	0.0006	0.0028	0.0033	0.0184	0.0039003	603	154602	rs192601953	0.0026	0.0026	0.0021	0.0031	0.0179	0.0026	0.0025	0.0171	0.0168	0.0003	0.0010	0.0001	0.0002	0.0007	0.0117	0.0017	0.0033	0.0179	0.0019	0.0020	0.0019	0.0020	0.0158	0.0018	0.0017	0.0129	0.0118	0.0002	0	0.0015	0	0.0006	0.0003	0.0204	0.0025	0.0024	0.0158	0.013	0.53900	D	0.166	0.30828	T	0.317	0.32920	B	0.018	0.18489	B	0.000021	0.55875	D	0.121838	1	0.81001	D	1.745	0.45235	L	2.61	0.13095	T	-1.37	0.33998	N	0.339	0.38027	-1.0844	0.06517	T	0.021	0.08917	T	10	0.005435258	0.00120	T	.	.	.	0.095	0.27398	.	.	0.082315109003	0.07666	0.30939651663886614	0.30852	0.304573988704	0.32764	0.685567378998	0.65068	T	0.02937	0.21062	T	-0.428501	0.01513	T	-0.374008	0.36421	T	0.0226783854346548	0.00986	T	0.89971	0.64861	D	0.13407205	0.31163	0.17044519	0.39155	0.13407205	0.31162	0.17044519	0.39154	-3.286	0.13558	T	.	.	0.153	0.33868	B	.	.	4.419976	0.68456	25.2	0.98970276715049565	0.49520	0.96906	0.71586	D	AEFGBI	0.669212	0.63672	D	0.187533030493372	0.50600	3.248455	0.371443162631876	0.59808	4.162137	0.999959655437087	0.48110	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	5.765000	0.68486	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.224	0.89845	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4491.11	35	chr7	140091845	.	G	A	4491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.24;DP=1048;ExcessHet=0.1072;FS=3.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.92;SOR=0.707	GT:AD:DP:GQ:PL	0/1:102,85:187:99:2256,0,2460	19	0	2	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,72,0,0:72:99:3136,217,0,3136,217,3136,3136,217,3136,3136	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,72,0,0:72:99:3136,217,0,3136,217,3136,3136,217,3136,3136	0	16	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,24:109:51:.:.:51,0,2697	3	0	18	0
chr7	150692486	150692486	G	T	exonic	GIMAP2	.	nonsynonymous SNV	GIMAP2:NM_015660:exon3:c.G200T:p.S67I,	.	.	422	1095	5	0	0	5	0.0022779	.	.	2823328	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.247	B	0.032	B	0.073	N	1.000	N	0.72	N	0.09	T	-1.061	T	0.075	T	0.179	1.656	11.50	-2.55	-0.378	-2.179	4.235	0.042	0.0100834365623	0.0062	0.000798722	0.0032	0.0016	0.0007	0	0.0006	0.0051	0	0.0008	0.0034088	527	154602	rs143364322	0.0056	0.0056	0.0057	0.0055	0.0068	0.0055	0.0055	0.0067	0.0066	0.0009	0.0016	0.0013	0	0.0016	0.0040	0.0068	0.0052	0.0006	0.0038	0.0038	0.0041	0.0036	0.0065	0.0036	0.0035	0.0060	0.0058	0.0013	0.0033	0.0037	0.0009	0	0.0006	0	0.0065	0.0038	0.0012	0.156	0.24090	T	0.439	0.13365	T	0.247	0.31125	B	0.032	0.22131	B	0.072937	0.02271	N	1.845140	1	0.08975	N	1.375	0.34280	L	0.09	0.61443	T	-2.0	0.46146	N	0.078	0.05287	-1.0606	0.11607	T	0.075	0.30272	T	10	0.010026962	0.00225	T	0.010083	0.26191	T	0.042	0.11227	.	.	0.542007956216	0.53853	0.10420609256454201	0.10350	0.0659128895758	0.07352	0.311677634716	0.12159	T	0.005419	0.04871	T	-0.519781	0.00441	T	-0.516794	0.20620	T	0.0012106252071761	0.00012	T	0.563744	0.19863	T	0.2293143	0.45667	0.1129119	0.27246	0.2293143	0.45667	0.1129119	0.27245	-5.445	0.41350	T	.	.	0.087	0.11124	B	.	.	0.318307	0.06928	3.473	0.93856417784080648	0.23859	0.03012	0.07883	N	AEFDGBCI	0.045576	0.07471	N	-1.03239041935048	0.07938	0.3704676	-1.11778024903956	0.07361	0.3577232	0.999997189872991	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.615948	0.41167	0	0.711	0.71501	0	.	.	3.8	-2.55	0.05922	-1.632000	0.02126	-2.272000	0.03968	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4274:0.3469:0.2256:0.0	4.235	0.10073	845	0.36510	AIG1-type guanine nucleotide-binding (G) domain|AIG1-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	0.02381	2231.98	33	chr7	150692486	.	G	T	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.972e+00;DP=917;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=1.02;SOR=0.542	GT:AD:DP:GQ:PL	0/1:76,84:160:99:2246,0,2129	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:250,79:329:99:1062,0,8497	4	0	17	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S,	.	.	943	554	20	5	0	30	0.026362	.	.	3210342	DLGAP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	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	0.04762	1529.11	35	chr8	737814	.	G	T	1529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=806;ExcessHet=0.1072;FS=1.420;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.890e-01;SOR=0.872	GT:AD:DP:GQ:PL	0/1:27,31:58:99:813,0,690	19	0	2	0
chr8	3018650	3018650	A	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon52:c.T7856C:p.V2619A,	.	.	.	.	.	.	.	.	.	0.0030	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.39	B	0.108	B	0.002	N	1.000	D	1.48	L	1.94	T	-1.113	T	0.040	T	0.294	1.264	10.12	5.0	2.001	9.036	14.995	0.140	.	.	.	1.665e-05	0	0	0	0	3.011e-05	0	0	1.29e-05	2	154602	rs201262421	1.988e-05	2.121e-05	1.908e-05	2.068e-05	0.0014	1.395e-05	1.206e-05	0.0007	0.0005	0	2.242e-05	0	0	0	0.0014	1.532e-05	4.979e-05	0	3.298e-05	3.284e-05	5.156e-05	1.35e-05	5.881e-05	1.264e-05	8.01e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0	0.311	0.13971	T	0.001	0.83351	D	0.39	0.34593	B	0.108	0.31289	B	0.002179	0.37095	N	0.175896	0.999998	0.81001	D	.	.	.	1.94	0.22678	T	-3.28	0.65627	D	0.601	0.64223	-1.1134	0.02793	T	0.040	0.17319	T	10	0.24149507	0.41328	T	0.03375	0.55199	D	0.140	0.37593	0.431	0.48007	0.170165803431	0.16609	0.5105738684760998	0.50979	.	.	0.601626753807	0.53134	T	0.075673	0.35344	T	-0.226105	0.17168	T	-0.432109	0.29695	T	0.236301690340042	0.22248	T	0.428457	0.11587	T	0.19679898	0.41522	0.22130658	0.46937	0.19679898	0.41522	0.22130658	0.46936	-8.479	0.64290	D	.	.	0.254	0.48857	B	.;.;.;.	.;.;.;.	2.947265	0.39208	20.9	0.75973669419734269	0.11284	0.99418	0.95776	D	AEFI	0.926986	0.90895	D	-0.137026016826337	0.35789	2.060154	-0.0275663017679998	0.38475	2.267299	0.999580033791525	0.40607	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.077000	0.93422	10.926000	0.84261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	1.0:0.0:0.0:0.0	14.995	0.71084	952	0.10565	Sushi/SCR/CCP domain;Sushi/SCR/CCP domain;Sushi/SCR/CCP domain;Sushi/SCR/CCP domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	35	chr8	3018650	.	A	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=768;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.242;SOR=0.418	GT:AD:DP:GQ:PL	0/1:27,31:58:99:941,0,796	20	0	1	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:38,0,45:83:99:1756,1871,3466,0,1596,1459	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:38,0,45:83:99:1756,1871,3466,0,1596,1459	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,54:213:99:0|1:10609943_C_T:1326,0,6071:10609943	2	0	16	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	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,56,0:217:99:0|1:10609943_C_T:1344,0,6053,1826,6221,8047:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	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	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	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	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,56,0:217:99:0|1:10609943_C_T:1344,0,6053,1826,6221,8047:10609943	0	0	15	4
chr8	22100890	22100890	G	A	exonic	FAM160B2	.	nonsynonymous SNV	FAM160B2:NM_001354250:exon12:c.G1531A:p.G511S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.016	B	0.006	B	0.278	N	0.501	N	0.55	N	2.69	T	-0.939	T	0.018	T	0.075	0.438	6.378	-0.525	-0.169	0.535	9.497	0.018	0.00232477962874	0.0003	0.00199681	0.0005	0.0015	0.0006	0.0002	0	0.0004	0	0.0006	0.0004722	73	154602	rs200904684	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0014	0.0005	3.826e-05	0.0001	5.631e-05	0.0035	0.0002	0.0005	0.0004	0.0006	0.0006	0.0005	0.0007	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0005	0	0	0	0	0.0002	0.0014	0.0010	0.455	0.08865	T	0.758	0.04669	T	0.016	0.17332	B	0.006	0.12133	B	0.277791	0.15002	N	0.670284	0.50114	0.31724	N	1.01	0.25309	L	2.69	0.12268	T	0.35	0.03761	N	0.076	0.05037	-0.9393	0.42727	T	0.018	0.07470	T	10	0.0061944723	0.00140	T	0.002325	0.04479	T	0.018	0.03083	.	.	0.0666544352282	0.05500	0.19582762168203105	0.19499	0.0593556417927	0.06593	0.290980547667	0.09066	T	0.006295	0.05726	T	-0.657185	0.00065	T	-0.730008	0.04327	T	0.0017964364944043	0.00018	T	0.576842	0.20728	T	0.06854135	0.14940	0.03947984	0.04049	0.06854135	0.14940	0.03947984	0.04049	-2.487	0.05693	T	.	.	0.064	0.01622	B	.	.	0.238955	0.06193	2.644	0.68940781913110438	0.08815	0.21359	0.21373	N	AEFBI	0.102409	0.20544	N	-1.34149872574313	0.03214	0.1431783	-1.322530681306	0.04140	0.1946591	0.999712362579141	0.42101	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.59	-0.525	0.11321	0.705000	0.25350	-0.057000	0.12472	-0.667000	0.04321	0.084000	0.22438	0.000000	0.08366	0.001000	0.02609	0.4876:0.0:0.5124:0.0	9.497	0.38158	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2457.98	41	chr8	22100890	.	G	A	2457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=1245;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-2.844e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/1:122,98:220:99:2472,0,2972	20	0	1	0
chr8	25336285	25336285	T	C	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon22:c.T2239C:p.S747P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.001	B	0.000	N	1.000	D	0.055	N	-0.53	T	-1.069	T	0.071	T	0.318	0.451	6.449	3.37	0.530	1.859	5.720	0.021	.	.	0.00279553	0.0011	0	0	0.0153	0	1.524e-05	0	0.0002	0.0010284	159	154602	rs74885248	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0084	0.0081	2.987e-05	0	0	0.0092	0	0.0002	8.095e-06	0.0007	0.0005	0.0006	0.0006	0.0006	0.0007	0.0158	0.0005	0.0005	0.0131	0.0121	2.406e-05	0	0.0001	0	0.0158	0	0	0	0	0.0017	0.488	0.08042	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	N	0.111837	0.973274	0.39011	D	-0.235	0.03917	N	-0.53	0.70833	T	-0.43	0.14390	N	0.105	0.08925	-1.0690	0.09634	T	0.071	0.29001	T	10	0.0033590496	0.00058	T	.	.	.	0.090	0.26093	.	.	0.42081714158	0.41701	0.40900019177542596	0.40816	0.0667242845945	0.07439	0.469298899174	0.34583	T	0.118519	0.43939	T	-0.439678	0.01299	T	-0.390064	0.34544	T	0.00985760271720024	0.00130	T	0.589941	0.21689	T	0.08260148	0.19036	0.10460164	0.25127	0.08260148	0.19036	0.10460164	0.25126	-2.221	0.04143	T	.	.	0.057	0.00533	B	.	.	1.886366	0.23959	16.22	0.93026921489072478	0.22626	0.01964	0.05955	N	ALL	0.396808	0.47314	N	-0.697965768283455	0.16079	0.8160836	-0.503481496177055	0.22058	1.196249	0.997864103044443	0.36124	0.700653	0.57754	0	0.588066	0.40923	0	0.670488	0.60580	0	0.581314	0.35197	2	.	.	5.76	3.37	0.37692	1.442000	0.34656	0.435000	0.18365	-0.157000	0.11712	1.000000	0.71638	0.964000	0.29435	0.957000	0.51019	0.0:0.1447:0.1436:0.7117	5.720	0.17252	417	0.81662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1687.98	33	chr8	25336285	.	T	C	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=848;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.145;SOR=0.614	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1702,0,2100	20	0	1	0
chr8	37831553	37831553	G	A	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon8:c.G1063A:p.A355T,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.993	D	0.784	P	0.000	D	0.990	D	1.355	L	0.59	T	-0.883	T	0.157	T	0.289	2.221	13.38	5.22	2.458	7.714	15.227	0.215	.	0.0052	0.00419329	0.0053	0.0016	0.0017	0.0002	0.0055	0.0047	0.0022	0.0155	0.0052069	805	154602	rs148701575	0.0062	0.0062	0.0060	0.0064	0.0150	0.0061	0.0061	0.0144	0.0141	0.0013	0.0017	0.0006	7.557e-05	0.0041	0.0054	0.0064	0.0053	0.0150	0.0039	0.0039	0.0040	0.0038	0.0141	0.0036	0.0035	0.0114	0.0104	0.0010	0	0.0023	0.0006	0.0002	0.0052	0	0.0057	0.0009	0.0141	0.049	0.39820	D	0.155	0.31936	T	0.993	0.65571	D	0.784	0.57456	P	0.000158	0.49130	D	0.136731	0.901768	0.41096	D	.	.	.	0.59	0.53943	T	-1.33	0.33197	N	0.58	0.66016	-0.8833	0.49497	T	0.157	0.48959	T	10	0.009638995	0.00217	T	.	.	.	0.215	0.50805	.	.	0.420939154896	0.41709	0.6182339843626599	0.61756	0.352897923945	0.37108	0.522005915642	0.41908	T	0.183341	0.53565	T	-0.42039	0.01700	T	-0.364313	0.37552	T	0.0362762037669932	0.03028	T	0.80112	0.75644	T	0.040327933	0.05735	0.07922838	0.17819	0.040327933	0.05735	0.07922838	0.17818	-7.261	0.55918	T	.	.	0.107	0.27161	B	.;.	.;.	3.340449	0.46023	22.2	0.99361598056235911	0.61029	0.92308	0.55412	D	AEFDGBHCI	0.899131	0.84318	D	0.29915241187772	0.56106	3.774881	0.301946978156592	0.55653	3.72825	0.999999999897871	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	6.638000	0.74166	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.1409:0.8591:0.0	15.227	0.73048	783	0.47268	.;GPCR, family 2, extracellular hormone receptor 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	0.04762	2263.11	39	chr8	37831553	.	G	A	2263.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.460e-01;DP=885;ExcessHet=0.1072;FS=1.118;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.921;SOR=0.598	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1216,0,1253	19	0	2	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K,	Cone-rod dystrophy 9	.	3	1467	49	3	0	55	0.0184008	.	.	193527	not_specified|not_provided|Cone-rod_dystrophy_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.97	T	0.084	B	0.097	B	0.003	N	0.633	N	0.28	N	3.24	T	-0.951	T	0.008	T	0.218	0.349	5.892	1.19	0.469	1.084	6.302	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	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	0.04762	3313.11	172	chr8	39011688	.	G	A	3313.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=979;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-2.360e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:88,63:151:99:1364,0,2077	19	0	2	0
chr8	47860965	47860965	T	C	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon45:c.A5992G:p.M1998V	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1923368	Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency	MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.044	B	0.046	B	0.000	D	0.550	D	1.6	L	1.68	T	-1.055	T	0.048	T	0.472	-0.105	3.486	2.27	0.145	0.593	4.137	0.086	0.00317057245081	8.5e-05	.	1.342e-05	0	0	0	0	2.537e-05	0	0	6.5e-06	1	154602	rs373881409	1.387e-05	1.368e-05	1.654e-05	1.116e-05	0.0002	9.06e-06	7.36e-06	2.397e-05	1.264e-05	9.046e-05	0	0	2.538e-05	0	0.0002	1.364e-05	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	0.028	0.54934	D	0.044	0.21686	B	0.046	0.24676	B	0.000007	0.62929	D	0.112377	0.549807	0.32123	D	2.01	0.54746	M	.	.	.	.	.	.	0.406	0.44666	-1.0554	0.12934	T	0.048	0.20592	T	10	0.18068409	0.33264	T	0.003171	0.06936	T	0.086	0.25016	.	.	0.695860412572	0.69323	0.28701011644979535	0.28614	0.174930252921	0.19695	0.317078024149	0.12978	T	0.075662	0.35230	T	-0.131712	0.31220	T	-0.247289	0.50084	T	0.0309156819883965	0.02132	T	0.844016	0.53348	T	0.19021335	0.40596	0.15405782	0.36174	0.19021335	0.40596	0.15405782	0.36173	-1.96	0.03147	T	0.18954296081561867	0.24798	0.077	0.06250	B	.;.	.;.	1.388292	0.18007	13.49	0.61791021834116455	0.06798	0.85626	0.44779	D	AEFBI	0.174068	0.30117	N	-0.359796612357241	0.26914	1.472603	-0.25962286717608	0.29442	1.649482	0.776893094259519	0.23767	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.02	2.27	0.27501	0.621000	0.24112	0.080000	0.14378	0.665000	0.62972	0.927000	0.32177	0.372000	0.24573	0.787000	0.37188	0.1111:0.0677:0.2869:0.5344	4.137	0.09642	568	0.70638	NUC194|NUC194;.	.	.	.	.	.	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	0.02381	430.98	33	chr8	47860965	.	T	C	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=680;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=1.37;SOR=0.744	GT:AD:DP:GQ:PL	0/1:17,20:37:99:445,0,388	20	0	1	0
chr8	55786599	55786599	A	G	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_001317902:exon3:c.A422G:p.K141R	.	.	426	1077	18	1	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.183	B	0.083	B	0.000	N	0.938	D	1.545	L	2.48	T	-1.101	T	0.036	T	0.307	3.012	16.05	4.64	1.026	2.292	11.750	0.033	.	0.0003	0.00299521	0.0025	0.0002	0.0002	0	0	0.0002	0.0044	0.0172	0.0021927	339	154602	rs148830309	0.0012	0.0012	0.0007	0.0018	0.0176	0.0012	0.0012	0.0169	0.0166	2.987e-05	6.708e-05	0.0008	0	0	0.0042	0.0001	0.0009	0.0176	0.0006	0.0006	0.0004	0.0009	0.0149	0.0005	0.0005	0.0121	0.0111	7.213e-05	0	0	0.0003	0.0002	0	0	0.0003	0.0009	0.0149	0.029	0.45756	D	0.101	0.38596	T	0.183	0.29179	B	0.083	0.29179	B	0.000008	0.62929	N	0.106806	0.937853	0.37205	D	2.225	0.63025	M	2.48	0.14657	T	-1.02	0.26843	N	0.15	0.15328	-1.1005	0.04032	T	0.036	0.15553	T	10	0.0075750947	0.00172	T	.	.	.	0.033	0.08068	.	.	0.490352026379	0.48669	0.4517214522943962	0.45090	0.0234045877946	0.02374	0.393132835627	0.24110	T	0.048339	0.27988	T	-0.501267	0.00562	T	-0.477875	0.24673	T	0.0320593373173094	0.02316	T	0.69743	0.30707	T	0.0963177	0.22684	0.12326074	0.29725	0.0963177	0.22683	0.12326074	0.29724	-8.014	0.61165	D	.	.	0.080	0.07602	B	.	.	2.416684	0.31068	18.63	0.99785824236703013	0.87219	0.91287	0.53230	D	AEFGBI	0.317426	0.42142	N	-0.0436488202988635	0.39887	2.359563	0.0930377614157046	0.44198	2.706191	0.999989863806197	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.64	0.57399	2.295000	0.43236	6.087000	0.53406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0685:0.0	11.750	0.51111	850	0.35610	.	.	.	.	.	.	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	0.02381	2183.98	34	chr8	55786599	.	A	G	2183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e-01;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.523e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2198,0,2348	20	0	1	0
chr8	63186720	63186720	T	A	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.T556A:p.S186T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0403124970032	.	.	8.281e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776453859	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.12072	T	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.30687	.	.	.	.	.	.	.	0.24396187	0.41619	T	0.040312	0.59308	D	.	.	.	.	0.123314135267	0.11883	0.6099147785040652	0.60923	0.775270139995	0.64992	0.68753862381	0.65352	T	0.020958	0.16408	T	-0.0227359	0.48463	T	-0.270435	0.47775	T	.	.	.	0.951205	0.81406	D	0.19472462	0.41234	0.49195397	0.70612	0.19472462	0.41234	0.49195397	0.70612	-2.983	0.09999	T	.	.	0.270	0.59279	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.682992	0.52433	23.2	0.92234412860899107	0.21611	0.96085	0.67464	D	AEFBCI	0.823216	0.74337	D	.	.	.	.	.	.	0.999999999999878	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.320204	0.05785	0	0.322829	0.05601	0	.	.	5.65	5.65	0.86881	6.199000	0.72039	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.934	0.79476	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1585.98	36	chr8	63186720	.	T	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.712e+00;DP=822;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.251;SOR=0.817	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1600,0,1927	20	0	1	0
chr8	67105925	67105925	C	A	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.C188A:p.S63Y	Joubert syndrome 21, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	955489	Inborn_genetic_diseases|Joubert_syndrome_21	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.769	P	0.009	N	0.886	N	1.7	L	1.17	T	-0.365	T	0.442	T	0.461	1.196	9.862	3.7	1.162	0.680	8.331	0.126	0.0502879920634	8.5e-05	.	0.0002	0	0	0	0	0.0003	0.0011	6.098e-05	0.0001552	24	154602	rs374330054	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0002	0.0004	0.0001	0.0002	5.839e-05	8.54e-05	8.531e-05	6.426e-05	0.0001	0.0006	4.956e-05	3.962e-05	0.0002	8.394e-05	0	0	0	0	0.0006	9.441e-05	0	0.0001	0	0	0.005	0.63226	D	0.015	0.61642	D	0.988	0.62325	D	0.686	0.53639	P	0.009396	0.30383	N	0.220953	0.886374	0.27960	N	.	.	.	-1.01	0.76168	T	-1.86	0.44094	N	0.22	0.24634	-0.3651	0.73111	T	0.442	0.77983	T	10	0.19296706	0.35047	T	0.050288	0.64177	D	0.126	0.34673	.	.	0.771920703749	0.76982	0.08584602611874989	0.08518	0.350896183506	0.36930	0.357957482338	0.19088	T	.	.	.	-0.210356	0.19329	T	-0.241001	0.50701	T	0.0557082872608414	0.06476	T	0.753825	0.37593	T	.	.	.	.	.	.	.	.	-6.024	0.46480	T	.	.	0.120	0.24934	B	.;.	.;.	2.184669	0.27852	17.60	0.98241511295877826	0.39485	0.70589	0.34653	D	AEFBI	0.088612	0.17964	N	0.0755084647669884	0.45323	2.790671	0.00837378480600887	0.40103	2.388016	0.949140834823175	0.27833	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.59	3.7	0.41607	0.731000	0.25726	.	.	0.545000	0.25583	0.996000	0.39380	0.991000	0.31484	0.006000	0.07323	0.0:0.8922:0.0:0.1078	8.331	0.31348	429	0.80881	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	613.98	34	chr8	67105925	.	C	A	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.832e+00;DP=769;ExcessHet=0.0000;FS=1.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-1.224e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/1:45,33:78:99:628,0,1057	20	0	1	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	362.71	76	chr8	73292778	.	GAACC	G	362.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.040e+00;DP=1647;ExcessHet=0.3300;FS=137.042;InbreedingCoeff=-0.0759;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.41;ReadPosRankSum=1.38;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:73292778_GAACC_G:234,0,2636:73292778	18	0	3	0
chr8	73292779	73292779	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	131.25	81	chr8	73292779	.	A	G,*	131.25	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-2.333e+00;DP=1586;ExcessHet=0.6776;FS=162.685;InbreedingCoeff=-0.1063;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.861;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,13:79:99:0|1:73292778_GAACC_G:234,432,3107,0,2675,2636:73292778	17	0	1	0
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.045	B	0.005	B	0.004	U	1.000	D	0.79	N	.	.	-1.039	T	0.071	T	0.151	0.788	8.155	1.89	0.549	0.308	6.001	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,13:79:99:0|1:73292778_GAACC_G:234,432,3107,0,2675,2636:73292778	9	0	1	8
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:66,0,13:79:99:0|1:73292778_GAACC_G:234,432,3107,0,2675,2636:73292778	9	0	1	8
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	523.71	70	chr8	73292782	.	C	CGGGG	523.71	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.625e+00;DP=1380;ExcessHet=0.6776;FS=99.991;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=1.57;ReadPosRankSum=1.67;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:73292778_GAACC_G:234,0,2636:73292778	15	0	4	2
chr8	98428829	98428829	A	G	exonic	KCNS2	.	nonsynonymous SNV	KCNS2:NM_020697:exon2:c.A850G:p.T284A,	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.002	B	0.009	B	0.196	N	0.962	N	1.04	L	-4.9	D	0.135	D	0.830	D	0.09	0.576	7.112	1.04	0.321	3.059	11.891	0.317	0.0383959060489	0.0017	0.000798722	0.0015	0.0007	0.0015	0	0.0005	0.0022	0	0.0004	0.0014489	224	154602	rs143746607	0.0015	0.0015	0.0015	0.0015	0.0031	0.0014	0.0014	0.0020	0.0017	0.0003	0.0015	0.0072	0	0.0007	0.0031	0.0016	0.0014	0.0005	0.0010	0.0010	0.0011	0.0010	0.0014	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0010	0.0052	0	0.0006	0	0.0014	0.0024	0.0006	0.156	0.24090	T	0.733	0.05109	T	0.002	0.09854	B	0.009	0.14300	B	0.196323	0.16714	N	0.437127	0.999936	0.19363	N	0.55	0.14455	N	-4.9	0.98333	D	-1.07	0.27876	N	0.062	0.03392	0.135	0.84803	D	0.830	0.94306	D	10	0.009027362	0.00204	T	0.038396	0.58198	D	0.317	0.63904	.	.	0.422872527889	0.41901	0.4272986052999258	0.42646	0.576062634877	0.53571	0.472696214914	0.35051	T	0.577607	0.86117	D	-0.326721	0.06362	T	-0.248564	0.49959	T	0.00322929549386895	0.00034	T	0.828817	0.49341	T	0.08202101	0.18876	0.10772605	0.25938	0.08202101	0.18876	0.10772605	0.25937	-3.671	0.18891	T	.	.	0.091	0.15025	B	.;.	.;.	1.760666	0.22396	15.60	0.88352307094635474	0.17909	0.61300	0.31444	D	AEFDBCI	0.124044	0.23993	N	-0.500661127013996	0.22058	1.175221	-0.38737057423802	0.25372	1.394925	0.998820878825933	0.37755	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.83	1.04	0.19220	3.050000	0.49568	3.343000	0.37723	0.756000	0.94297	0.996000	0.39380	0.993000	0.31925	0.996000	0.76049	0.5916:0.0:0.0:0.4084	11.891	0.51908	906	0.23090	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2878.98	34	chr8	98428829	.	A	G	2878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=912;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.596;SOR=0.584	GT:AD:DP:GQ:PL	0/1:105,114:219:99:2893,0,2810	20	0	1	0
chr8	103885747	103885747	T	G	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001282881:exon2:c.T572G:p.I191S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.611	P	0.205	B	.	.	1.000	D	0.69	N	1.24	T	-1.093	T	0.064	T	0.365	1.491	10.93	5.32	2.006	2.972	15.270	0.119	0.0100239672755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.736	0.23638	T	0.21	0.39680	B	0.135	0.37080	B	.	.	.	.	0.93962	0.37267	D	.	.	.	1.24	0.36691	T	-1.89	0.44094	N	0.492	0.52563	-1.0926	0.05112	T	0.064	0.26349	T	9	0.16081724	0.30181	T	0.010024	0.26057	T	0.119	0.33137	.	.	0.147330786459	0.14319	0.5272100905988095	0.52645	.	.	0.605789065361	0.53722	T	0.101904	0.42043	T	-0.096548	0.36995	T	-0.376461	0.36137	T	0.328784859055659	0.26175	T	0.965803	0.87368	D	.	.	.	.	.	.	.	.	-7.618	0.78095	D	.	.	0.202	0.56540	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.919571	0.38750	20.8	0.97736383541879346	0.35653	0.94500	0.61366	D	AEFGI	0.560591	0.56893	D	-0.0819399793727908	0.38185	2.232578	0.0937509466160836	0.44233	2.709071	0.97342121925125	0.29455	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	2.421000	0.44343	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.270	0.73389	631	0.64944	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	2225.98	37	chr8	103885747	.	T	G	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.934;DP=855;ExcessHet=0.0000;FS=4.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=0.877;SOR=1.050	GT:AD:DP:GQ:PL	0/1:71,79:150:99:2240,0,1918	20	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.705	15.01	5.86	2.774	7.829	17.668	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1553.11	38	chr8	109452281	.	G	A	1553.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.44;DP=763;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-1.539e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:18,40:58:99:1039,0,449	19	0	2	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V,	.	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.018	B	0.035	B	0.003	N	0.748	D	0.555	N	.	.	-1.023	T	0.080	T	0.118	0.944	8.847	-4.43	-1.574	1.579	14.105	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	883.11	35	chr8	125009277	.	A	G	883.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.523;DP=790;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.605;SOR=0.651	GT:AD:DP:GQ:PL	0/1:36,22:58:99:467,0,939	19	0	2	0
chr8	131955782	131955784	CTT	-	exonic	EFR3A	.	nonframeshift deletion	EFR3A:NM_001323553:exon7:c.545_547del:p.S184del	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	.	0.0001	9.623e-05	8.676e-05	0	0.0002	7.497e-05	0.0011	0.0005	0.00011	17	154602	rs370171637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.974e-05	0.0005	0.0005	2.99e-05	6.717e-05	0	0.0002	0.0002	0.0005	8.189e-05	3.316e-05	0.0007	9.197e-05	9.187e-05	6.426e-05	0.0001	0.0002	5.526e-05	4.364e-05	3.763e-05	2.576e-05	2.407e-05	0	0.0001	0	0.0002	0.0003	0	8.823e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.94	33	chr8	131955781	.	CCTT	C	861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=750;ExcessHet=0.0000;FS=2.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-9.450e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/1:38,24:62:99:876,0,1498	20	0	1	0
chr8	140283926	140283926	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon13:c.G2050A:p.A684T	Mental retardation, autosomal recessive 13, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	308181	not_provided|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|Intellectual_disability	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.984	D	0.692	P	0.000	D	0.999	D	1.735	L	.	.	-0.537	T	0.343	T	0.354	2.970	15.90	5.55	2.601	4.149	19.503	0.112	0.0231400143245	0.0002	.	0.0004	0	0.0003	0.0008	0	0.0005	0.0033	0	0.0003363	52	154602	rs147044768	0.0002	0.0002	0.0003	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	5.974e-05	0.0001	0.0005	0.0002	5.616e-05	0.0009	0.0003	0.0002	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0006	9.153e-05	7.708e-05	0.0002	0.0001	2.415e-05	0	6.545e-05	0	0.0006	0	0	0.0002	0.0005	0	0.006	0.63226	D	0.012	0.63918	D	0.59	0.59353	P	0.266	0.50368	B	0.000099	0.51296	D	0.174005	0.999106	0.46078	D	1.935	0.51832	L	.	.	.	-2.18	0.49187	N	0.569	0.63120	-0.5375	0.67258	T	0.343	0.70843	T	9	0.14443013	0.27409	T	0.02314	0.46083	T	0.112	0.31546	.	.	0.238705975628	0.23479	0.4082836159971277	0.40744	0.410003930017	0.41799	0.583521842957	0.50582	T	0.18026	0.53154	T	-0.28783	0.09854	T	-0.260338	0.48791	T	0.368584334850311	0.27743	T	0.941706	0.78221	D	0.1426951	0.32826	0.18335241	0.41319	0.1426951	0.32826	0.18335241	0.41318	-9.04	0.69134	D	.	.	0.122	0.25946	B	.;.;.;.	.;.;.;.	3.452650	0.48089	22.6	0.99369111406507948	0.61368	0.93585	0.58620	D	AEFGI	0.389457	0.46867	N	0.182596063836786	0.50364	3.227078	0.188699788417172	0.49226	3.12846	0.999438851364219	0.39683	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	4.318000	0.58981	5.929000	0.51288	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	19.503	0.95094	988	0.01987	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2437.98	38	chr8	140283926	.	C	T	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.051e+00;DP=932;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-7.150e-01;SOR=0.419	GT:AD:DP:GQ:PL	0/1:78,105:183:99:2452,0,1999	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,65,2:67:99:2833,196,0,2760,117,2847	0	17	0	0
chr8	143597931	143597931	C	T	exonic	TIGD5	.	nonsynonymous SNV	TIGD5:NM_032862:exon1:c.C28T:p.P10S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	0.996	N	0.55	N	0.95	T	-1.022	T	0.064	T	0.123	0.830	8.347	1.42	-0.021	1.880	6.082	0.026	0.16535122707	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541013207	0.0020	0.0012	0.0019	0.0021	0.0048	0.0019	0.0019	0.0020	0.0020	0.0001	0.0048	0	0	0	0	0.0021	0.0014	6.645e-05	0.0011	0.0011	0.0013	0.0009	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0014	0	0.0002	0	0	0.0020	0.0010	0	0.404	0.10345	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.23013	N	0.805	0.20218	L	0.95	0.43279	T	-0.62	0.18248	N	0.107	0.09207	-1.0218	0.23129	T	0.064	0.26456	T	7	0.041391462	0.02790	T	0.165351	0.84423	D	0.026	0.05648	0.225	0.14960	0.288352970974	0.28455	0.2639304410727382	0.26306	0.826422662442	0.67426	0.81447404623	0.84179	D	0.013925	0.11951	T	-0.23261	0.16306	T	-0.571905	0.15275	T	0.0646710820705895	0.07882	T	0.281572	0.04927	T	0.020422366	0.00601	0.05331631	0.08958	0.020422366	0.00600	0.05331631	0.08957	-4.656	0.32867	T	.	.	0.082	0.08899	B	.	.	0.560313	0.09286	6.070	0.95209500934471869	0.26414	0.01350	0.04632	N	AEFGBHCI	0.085916	0.17417	N	-0.702941177343741	0.15938	0.8077343	-0.801501982837548	0.14459	0.7555935	0.999999969989811	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.4	1.42	0.21524	1.074000	0.30315	.	.	0.393000	0.20503	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.0:0.6721:0.1632:0.1646	6.082	0.19171	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	179.47	1	chr8	143597931	.	C	T	179.47	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.18;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0058;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,6:10:99:189,0,101	15	0	1	5
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C,	Amelogenesis imperfecta, type III, Autosomal dominant	.	9	1502	10	1	0	12	0.00397878	.	.	790784	FAM83H-related_disorder|Amelogenesis_imperfecta,_hypocalcification_type|not_provided	.|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.628	P	0.004	U	0.999	N	0.895	L	2.42	T	-1.012	T	0.054	T	0.348	0.901	8.661	2.03	0.781	0.935	8.641	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	793.98	21	chr8	143727792	.	C	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e+00;DP=541;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-5.460e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:22,32:54:99:808,0,600	20	0	1	0
chr8	143728365	143728365	C	G	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1096C:p.A366P,	Amelogenesis imperfecta, type III, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.000	U	1.000	N	0.805	L	2.39	T	-1.016	T	0.029	T	0.24	2.230	13.41	-2.0	-0.105	0.351	5.734	0.068	0.0923621668698	.	.	9.623e-05	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs782789939	9.343e-06	8.893e-06	7.084e-06	1.167e-05	2.819e-05	5.21e-06	4.02e-06	3.2e-06	2.31e-06	0	2.819e-05	0	0	0	0	7.438e-06	6.947e-05	0	6.587e-06	6.567e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.011	0.55530	D	0.153	0.32144	T	0.001	0.07471	B	0.002	0.06944	B	0.000005	0.00162	U	15.362100	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	-1.68	0.40082	N	0.081	0.05670	-1.0160	0.25013	T	0.029	0.12541	T	10	0.05153206	0.05049	T	0.092362	0.75877	D	0.068	0.19811	.	.	0.0675242888579	0.06100	0.3166984424106218	0.31582	0.421488314731	0.42653	0.760809361935	0.76049	T	0.00674	0.06169	T	-0.338014	0.05527	T	-0.595532	0.13190	T	0.0832490660203979	0.10398	T	.	.	.	0.20822085	0.43052	0.31755742	0.57729	0.20822085	0.43052	0.31755742	0.57728	-3.129	0.11632	T	.	.	0.087	0.11076	B	.	.	1.303409	0.17054	12.93	0.98495337403994399	0.42144	0.08493	0.14415	N	AEFDBCI	0.128611	0.24646	N	-1.20443399818375	0.04934	0.2237975	-1.23444400646039	0.05365	0.2554631	0.998217545561369	0.36589	0.475244	0.09938	2	0.588066	0.40923	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.97	-2.0	0.07024	0.374000	0.20232	.	.	0.567000	0.28720	0.004000	0.16614	0.017000	0.20586	0.043000	0.14563	0.0:0.2487:0.3837:0.3676	5.734	0.17324	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	612.98	29	chr8	143728365	.	C	G	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=706;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.032;SOR=1.179	GT:AD:DP:GQ:PL	0/1:25,22:47:99:627,0,674	20	0	1	0
chr8	143924453	143924453	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C5434T:p.R1812W	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	.	7	1449	59	7	0	73	0.0245709	.	.	177252	not_specified|Arrhythmogenic_right_ventricular_dysplasia_1|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MedGen:CN169374|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	U	0.996	D	1.61	L	-2.88	D	0.641	D	0.803	D	0.425	0.688	7.675	2.3	0.372	1.925	12.149	0.426	.	.	0.00339457	0.0098	0.0004	0.0033	0.0003	0.0007	0.0107	0.0101	0.0171	0.0040426	625	154602	rs200575795	0.0044	0.0044	0.0041	0.0048	0.0141	0.0043	0.0043	0.0130	0.0127	0.0005	0.0028	0.0307	0.0001	0.0009	0.0141	0.0034	0.0065	0.0137	0.0037	0.0037	0.0037	0.0036	0.0142	0.0034	0.0033	0.0115	0.0105	0.0004	0.0121	0.0026	0.0326	0.0002	0.0009	0	0.0042	0.0062	0.0142	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.002697	0.36102	U	0.108057	0.99568	0.42807	D	2.24	0.63355	M	-2.88	0.91533	D	-1.88	0.46673	N	0.49	0.54234	0.641	0.92429	D	0.803	0.93323	D	10	0.007696271	0.00175	T	.	.	.	0.426	0.73372	.	.	0.538698623518	0.53521	0.6664321229980325	0.66581	.	.	0.520834326744	0.41744	T	0.366939	0.73210	T	-0.225344	0.17271	T	-0.0847904	0.64552	T	0.0308348928505275	0.02119	T	0.990268	0.96984	D	0.1167003	0.27523	0.07219795	0.15548	0.09942296	0.23464	0.09908997	0.23646	-9.825	0.73726	D	0.5669249192020892	0.63433	0.153	0.38924	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.400946	0.47136	22.4	0.98261974105264538	0.39676	0.48628	0.28250	N	AEFDBCI	0.457677	0.50902	N	-0.266233349672278	0.30461	1.698689	-0.464760334146812	0.23131	1.259887	0.999895881367692	0.45129	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.2	2.3	0.27735	2.651000	0.46338	.	.	-0.177000	0.10537	0.124000	0.23245	1.000000	0.68203	0.092000	0.17891	0.0:0.0:0.6888:0.3112	12.149	0.53344	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.04762	2222.11	57	chr8	143924453	.	G	A	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.13;DP=1177;ExcessHet=0.1072;FS=0.617;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=2.67;SOR=0.619	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1273,0,1199	19	0	2	0
chr8	144472854	144472854	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon17:c.G1921A:p.G641S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.096	B	0.033	B	.	.	1.000	N	2.49	M	-1.27	T	-0.930	T	0.141	T	0.262	2.043	12.79	0.122	0.101	0.923	2.843	0.064	0.389280760644	.	0.000399361	0.0004	0	0	0	0	0	0	0.0021	0.0001358	21	154602	rs542668383	8.102e-05	9.166e-05	5.978e-05	0.0001	0.0013	6.846e-05	6.43e-05	0.0011	0.0010	0	0	0	0	0	0.0002	3.665e-06	0.0001	0.0013	4.596e-05	4.593e-05	5.139e-05	4.027e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0008	0.146	0.25055	T	0.108	0.37589	T	0.06	0.23119	B	0.009	0.14300	B	.	.	.	.	1	0.18198	N	2.89	0.83701	M	-1.27	0.79277	T	-2.53	0.54864	D	0.083	0.05929	-0.9303	0.44095	T	0.141	0.46128	T	9	0.0234088	0.00611	T	0.389281	0.93151	D	0.233	0.53499	0.536	0.64585	0.55999961142	0.55660	0.5149018154161938	0.51413	.	.	0.638537049294	0.58356	T	0.703755	0.91492	D	-0.36188	0.04024	T	-0.333125	0.41120	T	0.0723284362572781	0.08975	T	0.659934	0.26896	T	0.10966794	0.25928	0.12517025	0.30162	0.10966794	0.25927	0.12517025	0.30162	-4.636	0.32621	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	0.754594	0.11243	7.873	0.97601388286324342	0.34853	0.02172	0.06367	N	AEFDBHCI	0.028906	0.02632	N	-0.483673325532116	0.22617	1.208836	-0.655190844887835	0.18086	0.9646084	0.99999999997827	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	4.2	0.122	0.14005	-0.728000	0.05029	-0.067000	0.12346	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.341000	0.25455	0.3517:0.0:0.4231:0.2252	2.843	0.05195	940	0.13648	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1585.98	35	chr8	144472854	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.12;DP=882;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-2.201e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1600,0,920	20	0	1	0
chr8	144500515	144500515	G	T	exonic	PPP1R16A	.	nonsynonymous SNV	PPP1R16A:NM_001329443:exon8:c.G734T:p.S245I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.021	B	0.063	B	0.121	N	0.606	N	-0.46	N	0.03	T	-0.956	T	0.097	T	0.275	2.899	15.66	4.16	2.393	1.137	9.606	0.137	0.129010088578	.	.	1.756e-05	0	0	0	0	0	0	9.239e-05	3.84e-05	1	26028	rs748372331	1.391e-06	2.736e-06	1.384e-06	1.398e-06	2.347e-05	2.3e-07	9e-08	3.9e-06	1.46e-06	0	0	0	0	0	0	0	0	2.347e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.206	0.27056	T	0.021	0.18474	B	0.063	0.27082	B	0.121453	0.18995	N	0.549886	0.606125	0.30900	N	-0.425	0.02884	N	0.03	0.62183	T	1.87	0.00472	N	0.262	0.29659	-0.9560	0.39916	T	0.097	0.36496	T	10	0.084136665	0.14070	T	0.12901	0.81102	D	0.137	0.36984	0.472	0.54699	0.770552705467	0.76845	0.3889715717099215	0.38812	0.189103845684	0.21227	0.471642494202	0.34906	T	0.033195	0.22810	T	-0.10596	0.35438	T	-0.38998	0.34554	T	0.141822845055429	0.16431	T	0.749925	0.37107	T	0.10168453	0.24022	0.105996	0.25491	0.10168453	0.24022	0.105996	0.25490	-6.038	0.46596	T	.	.	0.124	0.26232	B	.;.	.;.	2.831111	0.37322	20.5	0.97985473586288008	0.37356	0.18729	0.20379	N	AEFDBCI	0.134094	0.25398	N	-0.528752192943163	0.21154	1.120614	-0.356734149614158	0.26302	1.451872	0.999999768532565	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	5.13	4.16	0.48138	1.582000	0.36177	6.166000	0.54416	0.660000	0.55035	0.004000	0.16614	0.996000	0.32793	0.629000	0.32131	0.0:0.0:0.647:0.353	9.606	0.38797	912	0.21483	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	38	chr8	144500515	.	G	T	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=813;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.63;ReadPosRankSum=0.744;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,54:93:99:0|1:144500515_G_T:2119,0,1472:144500515	20	0	1	0
chr8	144511990	144511990	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon19:c.G3314A:p.G1105D,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	0	1463	53	6	0	65	0.0217319	.	.	138890	not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome	MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00359425	0.0054	0.0009	0.0049	0	0.0009	0.0072	0.0078	0.0057	0.0046636	721	154602	rs36078464	0.0054	0.0054	0.0053	0.0056	0.0120	0.0053	0.0053	0.0097	0.0089	0.0008	0.0044	0.0059	0	0.0008	0.0120	0.0060	0.0056	0.0055	0.0038	0.0038	0.0041	0.0036	0.0059	0.0036	0.0035	0.0055	0.0053	0.0010	0	0.0050	0.0037	0	0.0008	0.0136	0.0059	0.0061	0.0048	.	.	.	0.552	0.18125	T	0.024	0.19075	B	0.028	0.21332	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.316	0.35620	.	.	.	.	.	.	.	0.00393191	0.00075	T	.	.	.	.	.	.	.	0.724635435794	0.72219	0.44854050858578554	0.44772	.	.	0.363676905632	0.19920	T	0.00702	0.17042	T	-0.294703	0.09170	T	-0.192929	0.55314	T	.	.	.	0.70353	0.31362	T	0.16268104	0.36360	0.17259818	0.39527	0.15574713	0.35184	0.1975136	0.43536	-5.937	0.45749	T	0.30497957848529705	0.40258	0.135	0.30791	B	.;.;.	.;.;.	1.028931	0.14089	10.66	0.75393395622667547	0.11058	0.35856	0.25399	N	AEFDGBHCI	0.092741	0.18772	N	.	.	.	.	.	.	0.999999938888088	0.74766	0.283894	0.04978	0	0.278934	0.05175	0	0.299256	0.05649	0	0.221052	0.04502	0	.	.	5.32	3.47	0.38831	0.183000	0.16729	0.890000	0.22465	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7099:0.1938:0.0962	8.553	0.32628	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2759.11	82	chr8	144511990	.	C	T	2759.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.472e+00;DP=1654;ExcessHet=0.1072;FS=0.548;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=1.42;SOR=0.620	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1390,0,1311	19	0	2	0
chr8	144548395	144548395	C	T	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.G691A:p.G231S	.	.	421	1052	47	2	0	51	0.0236659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.894	P	0.438	B	0.014	N	0.552	D	1.245	L	1.95	T	-1.076	T	0.036	T	0.554	2.113	13.02	5.36	2.507	5.819	16.564	0.160	.	0.0044	0.00359425	0.0051	0.0007	0.0044	0	0.0009	0.0068	0.0077	0.0058	0.0046312	716	154602	rs117441152	0.0052	0.0052	0.0051	0.0053	0.0102	0.0051	0.0050	0.0082	0.0074	0.0007	0.0043	0.0068	0	0.0008	0.0102	0.0057	0.0054	0.0052	0.0037	0.0037	0.0039	0.0034	0.0056	0.0034	0.0033	0.0051	0.0050	0.0009	0	0.0049	0.0052	0	0.0008	0.0102	0.0056	0.0052	0.0043	0.155	0.24183	T	0.158	0.31629	T	0.894	0.49185	P	0.438	0.45631	B	0.013757	0.28743	N	0.387071	0.551795	0.32139	D	1.59	0.40313	L	1.95	0.22474	T	-0.78	0.22727	N	0.444	0.48227	-1.0756	0.08225	T	0.036	0.15553	T	10	0.0073208213	0.00166	T	.	.	.	0.160	0.41473	.	.	0.444907495582	0.44111	0.4106961497537202	0.40985	1.01720932989	0.74987	0.536832273006	0.43999	T	0.018792	0.15087	T	-0.414179	0.01865	T	-0.364826	0.37492	T	0.00917352442878759	0.00116	T	0.818018	0.47523	T	0.10252791	0.24229	0.11431584	0.27593	0.10252791	0.24228	0.11431584	0.27592	-4.24	0.27327	T	.	.	0.087	0.11269	B	.;.	.;.	3.182973	0.43212	21.7	0.99535120560583046	0.70150	0.98571	0.84224	D	AEFDGBI	0.810333	0.73360	D	0.118872725980105	0.47343	2.961376	0.186487857527048	0.49107	3.117856	0.999998415264145	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	4.781000	0.62082	3.937000	0.40576	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.099000	0.18236	0.0:1.0:0.0:0.0	16.564	0.84424	879	0.29470	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2413.11	41	chr8	144548395	.	C	T	2413.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-01;DP=955;ExcessHet=0.1072;FS=4.386;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.52;SOR=0.590	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1446,0,1326	19	0	2	0
chr8	144807888	144807888	G	T	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.G951T:p.Q317H	.	.	419	1060	41	2	0	45	0.0207852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.721	P	.	.	1.000	N	0.515	N	0.68	T	-1.038	T	0.051	T	0.199	2.620	14.72	1.92	1.581	0.263	4.035	0.009	.	0.0004	0.000599042	0.0029	0	0.0028	0.0002	0	0.0015	0.0026	0.0170	0.0015653	242	154602	rs142358445	0.0012	0.0012	0.0008	0.0015	0.0106	0.0011	0.0011	0.0099	0.0097	9.43e-05	0.0013	0.0036	2.566e-05	4.283e-05	0.0106	0.0005	0.0018	0.0105	0.0008	0.0009	0.0007	0.0010	0.0099	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0016	0.0017	0	9.413e-05	0.0068	0.0005	0.0024	0.0099	0.002	0.72154	D	0.001	0.83351	D	0.977	0.58535	D	0.721	0.54900	P	.	.	.	.	1	0.08975	N	1.165	0.29723	L	0.68	0.51952	T	-2.4	0.52776	N	0.093	0.07949	-1.0384	0.17802	T	0.051	0.21650	T	9	0.004741341	0.00100	T	.	.	.	0.094	0.27141	0.582	0.70861	0.391000631824	0.38715	0.20662803744608674	0.20578	0.546712786564	0.51655	0.457841545343	0.33015	T	0.073538	0.34722	T	-0.487576	0.00670	T	-0.463751	0.26193	T	0.0529239228263996	0.06006	T	0.917708	0.70434	D	0.18125005	0.39286	0.16418901	0.38047	0.18125005	0.39286	0.16418901	0.38046	-5.988	0.46179	T	.	.	0.505	0.64821	A	.;.	.;.	1.969233	0.25016	16.61	0.99102405723314768	0.52496	0.10551	0.16026	N	AEFGBI	0.043680	0.06934	N	-0.588855039103326	0.19282	1.007933	-0.714412742383216	0.16602	0.8790396	0.31948129485906	0.19369	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	2.83	1.92	0.24912	0.966000	0.28929	1.373000	0.25972	0.670000	0.69193	0.032000	0.20554	0.038000	0.21505	0.122000	0.19250	0.2894:0.0:0.7106:0.0	4.035	0.09211	675	0.60470	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	0.02381	1477.98	33	chr8	144807888	.	G	T	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=959;ExcessHet=0.0000;FS=2.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=1.28;SOR=0.519	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1492,0,1904	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,12,0:39:99:.:.:358,0,866,439,902,1341	3	5	9	0
chr9	2639898	2639898	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001018056:exon3:c.A242G:p.N81S	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	425841	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|not_specified|not_provided	MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.044	B	0.04	B	0.000	D	1.000	D	0.85	L	-2.84	D	0.252	D	0.727	D	0.046	2.742	15.13	5.92	2.263	4.490	10.959	0.428	0.0153376932889	0.0015	0.00239617	0.0020	0.0002	0.0010	0.0001	0	0.0016	0.0055	0.0071	0.0018823	291	154602	rs140526335	0.0018	0.0018	0.0016	0.0019	0.0072	0.0017	0.0017	0.0067	0.0066	0.0003	0.0013	0.0016	7.557e-05	0.0001	0.0062	0.0015	0.0023	0.0072	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0011	0.0055	0.0049	0.0006	0	0.0014	0.0012	0	9.429e-05	0	0.0017	0.0014	0.0075	0.153	0.25255	T	0.142	0.33330	T	0.024	0.20614	B	0.034	0.22546	B	0.000024	0.55875	D	0.000000	0.999878	0.81001	D	0.39	0.12200	N	-3.79	0.95663	D	-2.86	0.65171	D	0.19	0.25130	0.252	0.86785	D	0.727	0.90669	D	10	0.010469168	0.00233	T	0.015338	0.36015	T	0.428	0.73517	.	.	0.776578565586	0.77452	0.44845219494177235	0.44763	0.0983170490784	0.11101	0.365291237831	0.20153	T	0.471293	0.81675	T	-0.338618	0.05485	T	-0.255313	0.49289	T	0.0443868002262097	0.04490	T	0.915608	0.69895	D	0.052636717	0.09847	0.081603274	0.18558	0.04889718	0.08596	0.07262831	0.15692	-2.219	0.04394	T	.	.	0.072	0.22464	B	.;.;.	.;.;.	3.304682	0.45380	22.1	0.99234005145777393	0.56310	0.88098	0.47879	D	AEFDGBCI	0.511179	0.53992	D	0.00406014141867189	0.42039	2.525572	0.215436882139292	0.50704	3.259653	0.999997596077997	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	4.492000	0.60054	7.124000	0.57604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9222:0.0:0.0778:0.0	10.959	0.46587	789	0.46346	EGF-like 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	0.02381	2215.98	33	chr9	2639898	.	A	G	2215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.697e+00;DP=898;ExcessHet=0.0000;FS=1.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.44;SOR=0.845	GT:AD:DP:GQ:PL	0/1:87,94:181:99:2230,0,2236	20	0	1	0
chr9	15447193	15447193	T	G	exonic	SNAPC3	.	nonsynonymous SNV	SNAPC3:NM_001039697:exon5:c.T681G:p.I227M	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.959	D	0.000	D	0.993	D	1.405	L	0.94	T	-1.008	T	0.101	T	0.263	3.378	17.39	0.9	-0.080	-0.133	4.463	0.119	0.0074916883307	0.0068	0.00119808	0.0061	0.0019	0.0017	0	0.0048	0.0097	0	0.0013	0.0058796	909	154602	rs41311434	0.0078	0.0078	0.0081	0.0075	0.0092	0.0077	0.0076	0.0090	0.0090	0.0010	0.0025	0.0067	0	0.0052	0.0038	0.0092	0.0072	0.0018	0.0050	0.0050	0.0052	0.0047	0.0082	0.0047	0.0046	0.0076	0.0074	0.0016	0	0.0031	0.0049	0.0002	0.0051	0.0034	0.0082	0.0043	0.0017	0.015	0.61437	D	0.043	0.49942	D	0.999	0.77913	D	0.959	0.70163	D	0.000001	0.84330	D	0.054861	0.992925	0.41783	D	1.775	0.45938	L	0.94	0.43672	T	-1.42	0.35991	N	0.354	0.43803	-1.0081	0.27510	T	0.101	0.37468	T	10	0.010859907	0.00240	T	0.007492	0.19872	T	0.119	0.33137	.	.	0.575045364607	0.57173	0.5656233446355885	0.56489	0.0501188400719	0.05501	0.543514668941	0.44942	T	0.014628	0.15839	T	-0.512292	0.00487	T	-0.498261	0.22528	T	0.0267628031153573	0.01511	T	0.817618	0.51273	T	0.19270617	0.40950	0.21062031	0.45456	0.19270617	0.40950	0.21062031	0.45455	-7.256	0.55882	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	2.243941	0.28660	17.87	0.99549664380186964	0.71086	0.76550	0.37552	D	AEFBI	0.148454	0.27234	N	0.144649808540918	0.48559	3.066699	0.100204482666835	0.44560	2.735372	0.0415969301697813	0.14490	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	0.9	0.18410	-0.096000	0.11027	-0.295000	0.10161	0.665000	0.62972	0.938000	0.32564	0.164000	0.23286	0.995000	0.73285	0.2208:0.1911:0.0:0.588	4.463	0.11097	559	0.71409	.;.;.	.	.	.	.	.	Likely benign	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	0.04762	3030.11	35	chr9	15447193	.	T	G	3030.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=889;ExcessHet=0.1072;FS=1.597;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.413;SOR=0.832	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1616,0,1186	19	0	2	0
chr9	35305678	35305678	A	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.A6274G:p.S2092G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964456751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13081121	0.24895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291471	0.05330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.	.	-0.053130	0.03930	0.872	0.63437546092968722	0.07224	0.04183	0.09684	N	AEFBI	.	.	.	.	.	.	.	.	.	0.102386546263082	0.16413	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0455939	0.04545	5.94	-0.312	0.12125	0.197000	0.16999	1.404000	0.26222	-0.054000	0.16847	0.000000	0.06391	0.004000	0.18990	0.067000	0.16453	0.5281:0.0:0.4719:0.0	10.511	0.44051	137	0.94565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	45.92	70	chr9	35305678	.	A	G	45.92	.	AC=2;AF=0.200;AN=10;DP=70;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.400;MQ=60.00;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	16
chr9	35819257	35819257	G	A	exonic	FAM221B	.	nonsynonymous SNV	FAM221B:NM_001012446:exon5:c.C991T:p.R331C,	.	.	.	.	.	.	.	.	.	.	.	3256355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	1.000	D	2.645	M	2.15	T	-0.818	T	0.155	T	0.812	4.637	25.4	5.1	2.372	5.986	14.081	0.378	0.0537780533208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020047743	5.074e-05	4.857e-05	4.935e-05	5.216e-05	0.0002	4.101e-05	3.765e-05	4.306e-05	3.942e-05	6.33e-05	5.602e-05	0	0	0	0.0002	5.468e-05	8.62e-05	2.524e-05	4.599e-05	4.597e-05	5.139e-05	4.033e-05	0.0001	2.109e-05	1.527e-05	2.261e-05	1.124e-05	2.412e-05	0	0.0001	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999157	0.81001	D	3.09	0.87444	M	2.15	0.19311	T	-6.74	0.92648	D	0.542	0.56919	-0.8176	0.54084	T	0.155	0.48568	T	9	0.5461857	0.63997	D	0.053778	0.65601	D	0.378	0.69612	0.609	0.74182	0.365703291355	0.36175	0.5450133528081467	0.54427	0.449931876917	0.44771	0.58788728714	0.51196	T	0.089812	0.38451	T	0.011457	0.53223	T	-0.0987747	0.63492	T	0.962148070335388	0.66283	D	0.760924	0.38541	T	0.41903374	0.62027	0.43480104	0.66988	0.41903374	0.62027	0.43480104	0.66988	-8.996	0.67672	D	.	.	0.301	0.53087	B	.	.	4.989533	0.82714	27.9	0.99927591463820231	0.99163	0.91752	0.54188	D	AEFI	0.770602	0.70550	D	0.797679054493171	0.85962	8.734929	0.746098364251482	0.85866	8.709907	0.999997326073327	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	6.067000	0.70831	5.189000	0.47892	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.081	0.64447	147	0.94143	.	.	.	.	.	.	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	0.02381	1236.98	40	chr9	35819257	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=838;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-5.300e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1251,0,1420	20	0	1	0
chr9	39149856	39149856	C	-	exonic	CNTNAP3	.	frameshift deletion	CNTNAP3:NM_033655:exon10:c.1599delG:p.L534Wfs*9,	.	.	485	1006	31	0	0	31	0.0151738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	rs1453339510	0.0004	0.0051	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0006	0.0001	0.0009	0.0004	0	0.0001	0.0002	0.0004	0.0004	0.0001	0.0003	0.0022	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0011	0.0005	0	0	0.0002	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	159.07	14	chr9	39149855	.	GC	G	159.07	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.540e-01;DP=226;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0613;MLEAC=2;MLEAF=0.050;MQ=32.76;MQRankSum=-1.981e+00;QD=10.60;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:39149855_GC_G:111,0,201:39149855	18	0	2	1
chr9	39149858	39149858	C	A	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon10:c.G1597T:p.A533S,	.	.	485	1003	34	0	0	34	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.01	B	0.008	B	.	.	1.000	N	0.345	N	-1.03	T	-0.982	T	0.172	T	0.282	-1.370	0.026	-0.119	0.110	-0.964	3.478	0.162	0.0108717051771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484419033	0.0004	0.0052	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0002	0.0008	0.0005	0	9.564e-05	0	0.0004	0.0004	8.299e-05	0.0002	0.0022	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0.0011	0.0003	0	0	0.0002	0	0.0003	0	0	1.0	0.02161	T	0.774	0.04619	T	0.001	0.15535	B	0.002	0.13708	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-1.03	0.76430	T	0.2	0.06138	N	0.062	0.06322	-0.9820	0.34538	T	0.172	0.51341	T	9	0.052612126	0.05321	T	0.010872	0.27894	T	0.162	0.41843	.	.	0.433600339574	0.42977	0.3437098445241947	0.34284	.	.	0.677286505699	0.63879	T	3.38E-4	0.00092	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.015555230591159	0.00353	T	0.561544	0.19673	T	0.03978719	0.05560	0.041134737	0.04607	0.03978719	0.05559	0.041134737	0.04607	-5.51	0.41961	T	.	.	0.068	0.05404	B	.;.;.;.	.;.;.;.	-0.079541	0.03764	0.786	0.91750366764953561	0.21049	0.04865	0.10603	N	AEFCI	0.055787	0.10258	N	-1.06548804724725	0.07287	0.3380553	-1.03089460491369	0.09110	0.4514132	7.75493372009555E-5	0.04552	0.615465	0.37627	0	0.588015	0.36545	0	0.685742	0.62368	0	0.655142	0.61905	0	.	.	2.95	-0.119	0.12883	-1.304000	0.02849	-15.477000	0.00355	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.758000	0.36073	0.1852:0.4881:0.0:0.3267	3.478	0.07157	988	0.01987	Laminin G domain;Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	159.13	14	chr9	39149858	.	C	A	159.13	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.068e+00;DP=237;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0618;MLEAC=2;MLEAF=0.050;MQ=34.38;MQRankSum=-1.981e+00;QD=10.61;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:39149855_GC_G:111,0,201:39149855	18	0	2	1
chr9	39359649	39359649	C	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C1884A:p.D628E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.005	B	0.01	B	0.050	N	1.000	N	-0.205	N	3.33	T	-0.987	T	0.008	T	0.024	-1.531	0.016	-3.9	-5.760	-6.744	2.074	0.021	0.000723305847733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	0.02320	T	.	.	.	.	.	.	0.050239	0.02009	N	2.110680	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.047	0.01911	-0.9865	0.33469	T	0.008	0.02801	T	10	0.040856928	0.02690	T	7.23E-4	0.00472	T	0.021	0.04004	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.434152	0.01400	T	-0.861406	0.00828	T	0.0524018360677947	0.05917	T	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.455621	0.00035	0.001	0.37268077095087287	0.02445	0.00039	0.00329	N	AEFI	0.015013	0.00265	N	-2.77036048603673	0.00003	0.0001614755	-2.85351455747602	0.00003	0.000152721	0.999948673956142	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	-3.9	0.03904	-6.034000	0.00103	-20.000000	0.00162	-4.173000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2503:0.4242:0.128:0.1975	2.074	0.03400	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	48.98	42	chr9	39359649	.	C	A	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.56;DP=2508;ExcessHet=0.0000;FS=39.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.15;MQRankSum=-2.678e+00;QD=0.14;ReadPosRankSum=-2.603e+00;SOR=3.160	GT:AD:DP:GQ:PL	0/1:310,34:344:63:63,0,9456	20	0	1	0
chr9	68499286	68499286	T	G	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon10:c.T1539G:p.S513R,	.	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.865	P	0.52	P	0.000	D	1.000	D	1.39	L	0.97	T	-1.035	T	0.109	T	0.569	3.612	18.39	3.01	0.275	0.273	9.250	0.190	0.0214740572675	0.0007	0.000199681	0.0004	9.61e-05	0.0003	0	0	0.0007	0	0.0002	0.0004463	69	154602	rs144017764	0.0006	0.0006	0.0006	0.0006	0.0064	0.0006	0.0006	0.0048	0.0042	0.0004	0.0010	7.652e-05	2.519e-05	1.872e-05	0.0064	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0006	0.0015	0.0004	0.0004	0.0010	0.0009	4.814e-05	0	0.0015	0	0	0	0.0034	0.0007	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.865	0.47557	P	0.52	0.48197	P	0.000013	0.62929	D	0.165377	0.997275	0.43759	D	1.7	0.43825	L	0.97	0.42502	T	-2.2	0.49519	N	0.657	0.66700	-1.0354	0.18731	T	0.109	0.39392	T	10	0.25374416	0.42745	T	0.021474	0.44254	T	0.190	0.46781	0.689	0.82653	0.0675242888579	0.06100	0.847781498741892	0.84739	0.476556053232	0.46784	0.538131833076	0.44181	T	0.425621	0.77568	T	-0.361542	0.04043	T	-0.371367	0.36730	T	0.0954403374918855	0.11848	T	0.951205	0.81406	D	0.44824532	0.63930	0.46855995	0.69174	0.44824532	0.63931	0.46855995	0.69174	-2.996	0.10138	T	.	.	0.366	0.57560	A	.	.	2.953479	0.39306	20.9	0.9960021673188082	0.74160	0.82357	0.41597	D	AEFBI	0.518455	0.54414	D	0.124562971215066	0.47610	2.984344	0.144328333839571	0.46843	2.923694	0.999957521360297	0.48110	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.83	3.01	0.33872	0.084000	0.14738	-4.244000	0.02260	0.665000	0.62972	0.973000	0.34540	0.000000	0.08366	0.998000	0.85391	0.0:0.1669:0.0:0.8331	9.250	0.36712	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1834.98	33	chr9	68499286	.	T	G	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=824;ExcessHet=0.0000;FS=3.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.050e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1849,0,1580	20	0	1	0
chr9	71690188	71690188	G	A	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon21:c.C3566T:p.P1189L	.	.	.	.	.	.	.	.	.	.	.	3300086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.007	B	0.000	D	0.999	D	0	N	2.59	T	-0.838	T	0.202	T	0.286	3.062	16.22	5.98	2.835	6.652	20.458	0.243	0.0223972726257	.	0.000199681	9.892e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs571284402	5.199e-05	5.199e-05	4.764e-05	5.638e-05	0.0007	4.258e-05	3.888e-05	0.0005	0.0005	2.987e-05	0	0	5.038e-05	0	0	7.194e-06	0.0001	0.0007	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	0	0	0.0008	0.01	0.68238	D	0.006	0.70582	D	0.021	0.18474	B	0.007	0.12992	B	0.000000	0.84330	D	0.045471	0.999471	0.47197	D	.	.	.	-0.65	0.72237	T	-0.31	0.12661	N	0.304	0.38335	-0.8375	0.52812	T	0.202	0.55850	T	10	0.19983315	0.36007	T	0.022397	0.45285	T	0.243	0.54921	0.855	0.95491	0.674124572524	0.67136	0.7962754336891227	0.79580	0.17722387353	0.19938	0.427529454231	0.28871	T	0.009055	0.08447	T	-0.294628	0.09177	T	-0.277773	0.47033	T	0.202747191670801	0.20567	T	0.846215	0.54490	T	0.1332169	0.30993	0.11662619	0.28154	0.1332169	0.30993	0.11662619	0.28153	-3.42	0.15327	T	.	.	0.176	0.43503	B	.;.;.	.;.;.	3.655007	0.51893	23.2	0.99738957700228248	0.83337	0.95040	0.63219	D	AEFDGBHCI	0.582185	0.58190	D	-0.0253866014958058	0.40707	2.422192	0.201961342479043	0.49956	3.192836	0.99999999999999	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	7.136000	0.76885	11.810000	0.96908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.374000	0.26200	0.0:0.0:1.0:0.0	20.458	0.99157	871	0.31377	ILEI/PANDER domain;.;ILEI/PANDER domain	.	.	.	.	.	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	0.02381	663.98	34	chr9	71690188	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.392e+00;DP=787;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=1.17;SOR=0.522	GT:AD:DP:GQ:PL	0/1:41,32:73:99:678,0,1129	20	0	1	0
chr9	76332585	76332585	G	A	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon33:c.G4642A:p.E1548K	.	.	429	1086	7	0	0	7	0.00321248	.	.	3211115	PCSK5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	0.001	D	1.000	N	0.315	N	0.05	T	-0.999	T	0.113	T	0.193	1.334	10.38	3.44	2.611	2.487	9.248	0.052	0.0313388188767	.	0.000399361	0.0051	0.0010	0.0021	0	0.0059	0.0084	0.0020	0.0003	0.0002305	6	26028	rs201074605	0.0058	0.0058	0.0060	0.0057	0.0069	0.0057	0.0057	0.0067	0.0067	0.0010	0.0019	0.0024	0	0.0049	0.0045	0.0069	0.0060	0.0003	0.0035	0.0035	0.0036	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0012	0	0.0026	0.0012	0	0.0037	0.0034	0.0057	0.0066	0.0004	0.388	0.15509	T	0.5	0.11190	T	.	.	.	.	.	.	0.000706	0.42254	D	0.214324	0.825276	0.28831	N	-0.04	0.05001	N	0.05	0.61923	T	-1.26	0.32991	N	0.346	0.38746	-0.9987	0.30283	T	0.113	0.40261	T	8	0.010307997	0.00230	T	0.031339	0.53444	D	0.052	0.14661	.	.	0.666169902468	0.66336	0.38220068456914	0.38135	0.0807614276133	0.09089	0.339817643166	0.16410	T	0.069409	0.33703	T	-0.465477	0.00908	T	-0.436837	0.29164	T	0.0279908463585488	0.01687	T	0.710329	0.32115	T	0.14110303	0.32527	0.14109741	0.33612	0.14110303	0.32527	0.14109741	0.33611	-4.594	0.32096	T	.	.	0.195	0.58826	B	.;.	.;.	2.325544	0.29784	18.23	0.98805291182955957	0.46525	0.81883	0.41200	D	AEFBI	0.219720	0.34457	N	0.00046782778899284	0.41875	2.512777	0.110624297868491	0.45090	2.778516	0.00158942314143521	0.08668	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.54	3.44	0.38486	2.533000	0.45326	4.258000	0.42792	0.672000	0.70159	0.996000	0.39380	1.000000	0.68203	0.627000	0.32078	0.0892:0.1516:0.7592:0.0	9.248	0.36697	955	0.09969	EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-like;EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-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	0.02381	3141.98	37	chr9	76332585	.	G	A	3141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=956;ExcessHet=0.0000;FS=2.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.601;SOR=0.728	GT:AD:DP:GQ:PL	0/1:138,119:257:99:3156,0,3621	20	0	1	0
chr9	76503484	76503484	C	T	exonic	GCNT1	.	nonsynonymous SNV	GCNT1:NM_001097636:exon2:c.C1103T:p.P368L	.	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	2.8	T	-1.042	T	0.072	T	0.177	2.600	14.65	5.28	1.635	2.020	15.552	0.229	.	0.0073	0.00199681	0.0059	0.0010	0.0020	0.0001	0.0029	0.0092	0.0110	0.0021	0.0057567	890	154602	rs147866228	0.0069	0.0069	0.0070	0.0068	0.0080	0.0068	0.0068	0.0079	0.0078	0.0012	0.0035	0.0101	0	0.0028	0.0075	0.0080	0.0064	0.0021	0.0049	0.0049	0.0054	0.0044	0.0081	0.0046	0.0045	0.0076	0.0073	0.0013	0	0.0040	0.0089	0	0.0019	0.0136	0.0081	0.0061	0.0017	0.009	0.57480	D	0.015	0.61642	D	1.0	0.90584	D	1.0	0.97372	D	0.000111	0.50451	D	0.179527	0.999996	0.58761	D	1.35	0.33515	L	2.8	0.11082	T	-3.66	0.70067	D	0.166	0.17828	-1.0415	0.16860	T	0.072	0.29227	T	9	0.009855479	0.00221	T	.	.	.	0.229	0.52916	.	.	0.354822389136	0.35094	0.6752166521111422	0.67459	0.688631019268	0.60446	0.558451235294	0.47049	T	0.165156	0.51089	T	-0.544482	0.00315	T	-0.544499	0.17857	T	0.0428290333591417	0.04207	T	0.910209	0.68156	D	0.11751566	0.27703	0.14330883	0.34063	0.11751566	0.27703	0.14330883	0.34062	-7.86	0.60112	D	.	.	0.156	0.35204	B	.;.;.	.;.;.	3.105211	0.41865	21.4	0.99846545302526746	0.92663	0.74851	0.36627	D	AEFGBI	0.347501	0.44195	N	0.380760817566918	0.60379	4.226286	0.271945140830324	0.53906	3.557584	0.999999963363176	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	2.651000	0.46338	3.337000	0.37675	0.599000	0.40250	0.938000	0.32564	0.998000	0.33993	0.102000	0.18378	0.0:0.9345:0.0:0.0655	15.552	0.75896	872	0.31118	.;.;.	.	.	.	.	.	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	0.02381	3044.98	34	chr9	76503484	.	C	T	3044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=977;ExcessHet=0.0000;FS=0.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.071e+00;SOR=0.738	GT:AD:DP:GQ:PL	0/1:112,121:233:99:3059,0,2780	20	0	1	0
chr9	88130057	88130057	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G2980A:p.V994I	.	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	0.0042	0	0.0002	0.0002	0	3.003e-05	0.0056	0.0300	0.003564	551	154602	rs369026353	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	9e-05	6.744e-05	0	0.0002	0	0.0007	2.885e-05	0.0018	0.0303	0.0010	0.0010	0.0005	0.0015	0.0304	0.0009	0.0008	0.0264	0.0249	2.406e-05	0	6.541e-05	0	0	0	0	8.819e-05	0	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3612.98	300	chr9	88130057	.	C	T	3612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=2970;ExcessHet=0.0000;FS=1.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.19;MQRankSum=-8.800e-01;QD=12.50;ReadPosRankSum=1.44;SOR=0.602	GT:AD:DP:GQ:PL	0/1:145,144:289:99:3627,0,3450	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:233,132:382:99:737,0,3908	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/4:1,38,0,0,26,0:65:99:2472,1034,1049,2516,1126,2633,2516,1126,2633,2633,1455,0,1546,1546,1496,2516,1126,2633,2633,1546,2633	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/4:1,38,0,0,26,0:65:99:2472,1034,1049,2516,1126,2633,2516,1126,2633,2633,1455,0,1546,1546,1496,2516,1126,2633,2633,1546,2633	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/4:1,38,0,0,26,0:65:99:2472,1034,1049,2516,1126,2633,2516,1126,2633,2633,1455,0,1546,1546,1496,2516,1126,2633,2633,1546,2633	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/4:1,38,0,0,26,0:65:99:2472,1034,1049,2516,1126,2633,2516,1126,2633,2633,1455,0,1546,1546,1496,2516,1126,2633,2633,1546,2633	1	2	3	0
chr9	92848388	92848388	G	T	exonic	ZNF484	.	nonsynonymous SNV	ZNF484:NM_001007101:exon4:c.C291A:p.N97K	.	.	426	1092	3	1	0	5	0.00228415	.	.	2264156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.651	P	0.162	B	.	.	1.000	N	0.6	N	3.49	T	-1.008	T	0.007	T	0.041	-2.248	0.004	-0.183	-0.035	-1.634	2.274	0.054	0.00100189190759	0.0002	0.000599042	0.0002	0	0.0007	0	0	0.0002	0	0.0002	0.0002005	31	154602	rs143919816	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	5.974e-05	0.0007	3.827e-05	0	0	0.0014	0.0002	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.717e-05	0.0001	9.901e-05	4.816e-05	0	0.0002	0	0	0	0	0.0002	0.0014	0.0002	0.325	0.24277	T	0.769	0.06903	T	0.651	0.40707	P	0.122	0.32387	B	.	.	.	.	1	0.08975	N	0.715	0.18665	N	3.49	0.06138	T	-1.12	0.28906	N	0.088	0.07398	-1.0079	0.27572	T	0.007	0.02558	T	9	0.013220847	0.00281	T	0.001002	0.01073	T	0.054	0.15330	0.295	0.25881	0.225902525712	0.22197	0.04767541770921431	0.04710	0.172812368073	0.19455	0.374264419079	0.21442	T	0.002199	0.01604	T	-0.665515	0.00058	T	-0.819098	0.01471	T	0.0242229658940866	0.01173	T	0.533547	0.19701	T	0.05729145	0.11382	0.049867306	0.07710	0.05729145	0.11382	0.049867306	0.07710	-1.468	0.01700	T	.	.	0.112	0.37727	B	.;.;.;.	.;.;.;.	0.423514	0.07943	4.650	0.7841034389725221	0.12289	0.00199	0.01145	N	AEFGBCI	0.022182	0.01077	N	-1.19299316966807	0.05105	0.2319648	-1.28725779318428	0.04602	0.2174522	0.0110276283730864	0.12119	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.94	-0.183	0.12631	-0.216000	0.09271	-0.239000	0.10608	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.1147:0.3745:0.3195:0.1914	2.274	0.03846	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	35	chr9	92848388	.	G	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=850;ExcessHet=0.0000;FS=3.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.018;SOR=0.986	GT:AD:DP:GQ:PL	0/1:61,74:135:99:1761,0,1681	20	0	1	0
chr9	94567343	94567343	C	T	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.G632A:p.S211N,	.	.	420	1078	24	0	0	24	0.0110092	.	.	1291939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.925	P	0.756	P	0.000	D	1.000	D	3.405	M	-1.06	T	0.463	D	0.592	D	0.389	4.764	26.7	5.15	2.397	7.627	18.622	0.786	0.264523765677	0.0049	0.00219649	0.0049	0.0006	0.0032	0.0001	0.0017	0.0072	0.0099	0.0029	0.0048641	752	154602	rs61755092	0.0060	0.0060	0.0059	0.0060	0.0180	0.0058	0.0058	0.0152	0.0142	0.0012	0.0041	0.0067	2.519e-05	0.0018	0.0180	0.0067	0.0062	0.0032	0.0051	0.0051	0.0055	0.0047	0.0082	0.0048	0.0047	0.0076	0.0074	0.0012	0	0.0061	0.0081	0	0.0013	0.0102	0.0082	0.0080	0.0035	0.012	0.54683	D	0.01	0.65728	D	0.925	0.51395	P	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-1.06	0.76819	T	-2.88	0.60507	D	0.925	0.92901	0.463	0.90023	D	0.592	0.85425	D	10	0.07704571	0.12111	T	0.264524	0.89639	D	0.786	0.92908	.	.	0.899524071798	0.89852	0.8972708646526822	0.89698	0.538909183156	0.51137	0.646869003773	0.59541	T	0.690878	0.91011	D	-0.248522	0.14281	T	-0.119373	0.61855	T	0.0570662658978449	0.06698	T	0.939106	0.77081	D	0.86085653	0.88151	0.5041288	0.71337	0.86085653	0.88153	0.5041288	0.71337	-13.102	0.89778	D	.	.	0.990	0.93631	P	.	.	4.692326	0.75201	26.3	0.99407335652157547	0.63122	0.97903	0.78000	D	AEFBI	0.950494	0.96418	D	0.840098062821124	0.88536	9.615741	0.790398461049065	0.89117	9.845452	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.713000	0.83653	7.548000	0.60216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	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	0.02381	948.98	35	chr9	94567343	.	C	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=792;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.598;SOR=0.670	GT:AD:DP:GQ:PL	0/1:50,41:91:99:963,0,1215	20	0	1	0
chr9	95469137	95469137	C	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon13:c.G1708C:p.V570L	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	566045	Gorlin_syndrome|See_cases|PTCH1-related_disorder|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.|.|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.601	P	0.334	B	0.000	D	1.000	D	2.425	M	-2.69	D	0.428	D	0.738	D	0.55	3.600	18.33	5.51	2.586	7.394	19.420	0.508	0.113178971592	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765258547	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0001	1.237e-05	1.051e-05	7.997e-05	6.236e-05	0	0	0	0	0	0	1.169e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.44358	D	0.119	0.36101	T	0.277	0.39346	B	0.158	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.71	0.90622	D	-1.55	0.41809	N	0.666	0.69387	0.428	0.89510	D	0.738	0.91029	D	10	0.3622725	0.52826	T	0.113179	0.79159	D	0.508	0.78848	0.431	0.48007	0.55347300972	0.55005	0.6577285813386012	0.65709	0.597372302995	0.54935	0.773280441761	0.77916	T	0.449426	0.79093	T	-0.013744	0.49739	T	-0.0208503	0.68972	D	0.25146296623296	0.22938	T	0.907909	0.71446	D	0.31692427	0.54379	0.27072743	0.52966	0.31692427	0.54379	0.27072743	0.52965	-11.078	0.80496	D	0.3990898662555778	0.49118	0.749	0.75012	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.122737	0.61634	24.4	0.9957970483519929	0.72921	0.99807	0.99597	D	AEFDBI	0.902253	0.84993	D	0.349131819777149	0.58694	4.043214	0.440012433563282	0.64079	4.654927	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.475000	0.80038	7.513000	0.59647	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.420	0.94711	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1646.98	34	chr9	95469137	.	C	G	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=835;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-4.740e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1661,0,1489	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,23:23:70:.:.:1035,1035,1035,70,70,0	2	0	1	0
chr9	98796337	98796337	G	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon1:c.C155T:p.A52V,	Nephronophthisis 16, Autosomal recessive	.	429	1089	4	0	0	4	0.00183318	.	.	1316257	not_provided|Nephronophthisis_16	MedGen:C3661900|MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.059	B	0.114	B	0.467	N	1.000	D	1.02	L	-0.48	T	-0.849	T	0.258	T	0.391	1.585	11.26	1.29	0.534	0.672	9.127	0.147	0.0925100627017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422061469	1.06e-05	2.258e-05	1.462e-05	6.111e-06	0.0004	5.69e-06	4.16e-06	3.26e-06	2.09e-06	0	0	0	0	0	0.0004	7.831e-06	4.972e-05	5.164e-05	3.358e-05	3.288e-05	1.311e-05	5.51e-05	0.0004	1.282e-05	8.13e-06	7.304e-05	3.034e-05	0	0	0.0001	0	0	0	0	1.498e-05	0	0.0004	0.219	0.19023	T	0.486	0.11691	T	0.059	0.23051	B	0.114	0.31755	B	0.466681	0.04901	N	1.337590	1	0.81001	D	2.595	0.75868	M	-0.48	0.70249	T	-0.35	0.12847	N	0.414	0.45426	-0.8488	0.52051	T	0.258	0.62912	T	10	0.17145261	0.31865	T	0.09251	0.75904	D	0.147	0.38986	0.234	0.16305	0.703127994698	0.70054	0.4513638873845564	0.45054	0.110450382627	0.12463	0.862614154816	0.91496	D	0.00853	0.07826	T	-0.000910271	0.51528	T	-0.239084	0.50888	T	0.361833155155182	0.27480	T	0.543046	0.18512	T	0.06769038	0.14680	0.06712323	0.13842	0.06769038	0.14679	0.06712323	0.13842	-5.954	0.45892	T	.	.	0.110	0.21353	B	.	.	2.721516	0.35600	19.94	0.99004943401706047	0.50231	0.44299	0.27288	N	AEFDBHCI	0.160235	0.28614	N	-0.479581629648352	0.22751	1.217009	-0.466112106123191	0.23093	1.257634	0.999999999060555	0.74766	0.65757	0.49021	0	0.606814	0.50340	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	3.47	1.29	0.20717	2.509000	0.45120	5.595000	0.49008	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:0.6111:0.3889	9.127	0.35982	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	617.98	13	chr9	98796337	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=570;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.600e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:23,24:47:99:632,0,488	20	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X,	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.025	29.7	5.16	2.565	7.445	19.019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	332.5	65	chr9	99218703	.	C	T	332.5	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.994e+00;DP=2231;ExcessHet=1.1607;FS=161.960;InbreedingCoeff=-0.1551;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.94;SOR=11.886	GT:AD:DP:GQ:PL	0/1:90,29:119:76:76,0,1781	15	0	5	1
chr9	101550624	101550624	G	T	exonic	RNF20	.	nonsynonymous SNV	RNF20:NM_019592:exon10:c.G1111T:p.V371L,	.	.	.	.	.	.	.	.	.	.	.	2396423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.462	P	0.092	B	0.000	D	1.000	D	0.895	L	1.38	T	-1.102	T	0.070	T	0.319	4.209	21.8	5.92	2.810	9.209	19.916	0.117	0.0135700463333	.	0.000798722	0.0001	0	0.0008	0	0	0.0001	0	0	0.0001423	22	154602	rs189985748	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	0.0001	0.0012	0.0011	2.987e-05	0.0015	0.0004	2.519e-05	0	0	8.993e-05	0.0002	0	0.0007	0.0007	0.0005	0.0010	0.0069	0.0006	0.0006	0.0059	0.0055	2.406e-05	0	0.0069	0.0003	0	0	0	7.35e-05	0	0.0002	0.096	0.31088	T	0.059	0.45961	T	0.462	0.36386	P	0.092	0.30031	B	0.000000	0.84330	D	0.050103	0.999987	0.54805	D	1.79	0.46772	L	1.38	0.34050	T	-1.17	0.29933	N	0.425	0.46462	-1.1016	0.03903	T	0.070	0.28412	T	10	0.0147533715	0.00310	T	0.01357	0.33074	T	0.117	0.32689	0.313	0.28774	0.508815697893	0.50521	0.523083834229465	0.52232	0.637984465512	0.57542	0.515682041645	0.41018	T	0.140357	0.47486	T	-0.408008	0.02050	T	-0.372082	0.36644	T	0.0789061140315127	0.09846	T	0.949505	0.80559	D	0.19039878	0.40623	0.1925561	0.42776	0.19039878	0.40623	0.1925561	0.42776	-3.521	0.16727	T	.	.	0.262	0.49702	B	.	.	4.374801	0.67387	25.1	0.99502718718589211	0.68147	0.99709	0.98858	D	AEFBI	0.889033	0.82273	D	0.269149562558024	0.54592	3.624437	0.454102150836458	0.64982	4.766303	0.999999999973705	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.332000	0.96418	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.916	0.97065	679	0.60090	.	.	.	.	.	.	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	0.02381	1667.98	40	chr9	101550624	.	G	T	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.631e+00;DP=821;ExcessHet=0.0000;FS=1.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.351;SOR=0.492	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1682,0,1873	20	0	1	0
chr9	104618031	104618031	A	-	exonic	OR13C9	.	frameshift deletion	OR13C9:NM_001001956:exon1:c.174delT:p.M59Cfs*24,	.	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0026	0.0004	0.0009	0	0.0011	0.0036	0.0033	0.0030	0.0002305	6	26028	rs542228686	0.0035	0.0035	0.0035	0.0035	0.0049	0.0034	0.0034	0.0039	0.0038	0.0007	0.0012	0.0027	2.519e-05	0.0016	0.0049	0.0040	0.0033	0.0029	0.0022	0.0022	0.0026	0.0019	0.0038	0.0020	0.0020	0.0034	0.0033	0.0005	0	0.0014	0.0023	0	0.0011	0	0.0038	0.0024	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3828.94	217	chr9	104618030	.	TA	T	3828.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=3054;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.67;MQRankSum=-1.056e+00;QD=16.58;ReadPosRankSum=-3.600e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/1:115,116:231:99:3843,0,3782	20	0	1	0
chr9	109176554	109176554	G	A	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon24:c.C2522T:p.A841V	.	.	436	1075	11	0	0	11	0.00509024	.	.	2333522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.1	B	0.024	B	.	.	1.000	D	0	N	-1.86	D	-0.599	T	0.309	T	0.118	3.035	16.13	4.42	2.507	3.950	10.344	0.205	0.0297105243092	0.0007	0.000599042	0.0008	0	0.0010	0	0	0.0009	0.0034	0.0014	0.0007374	114	154602	rs201310807	0.0007	0.0007	0.0007	0.0007	0.0023	0.0007	0.0007	0.0013	0.0012	9.049e-05	0.0010	0.0004	0	3.748e-05	0.0023	0.0007	0.0008	0.0015	0.0008	0.0008	0.0009	0.0007	0.0024	0.0007	0.0006	0.0017	0.0015	0.0003	0	0.0024	0.0003	0.0002	0	0.0034	0.0010	0.0005	0.0008	0.137	0.25979	T	0.25	0.23707	T	0.1	0.25713	B	0.024	0.20255	B	.	.	.	.	0.999301	0.21385	N	0	0.06538	N	-1.86	0.84341	D	-0.39	0.13611	N	0.174	0.18649	-0.5992	0.64850	T	0.309	0.67994	T	9	0.0120204985	0.00260	T	0.029711	0.52165	D	0.205	0.49236	.	.	0.398073934661	0.39420	0.2486468099550147	0.24778	0.250243036084	0.27601	0.371308147907	0.21020	T	0.010314	0.09328	T	-0.374625	0.03366	T	-0.346277	0.39631	T	0.0411264412659923	0.03894	T	0.790621	0.43132	T	0.082045645	0.18882	0.23190922	0.48336	0.082045645	0.18881	0.23190922	0.48335	-4.069	0.24831	T	.	.	0.106	0.19639	B	.	.	3.295434	0.45215	22.1	0.9947084766303228	0.66312	0.81298	0.40731	D	AEFDI	0.551762	0.56370	D	-0.127314684256125	0.36205	2.089671	0.0873911562339272	0.43911	2.683313	0.999999647387237	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.39	4.42	0.52775	4.002000	0.56766	8.127000	0.76643	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.6619:0.3381	10.344	0.43075	874	0.30607	.	.	.	.	.	.	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	0.02381	870.98	39	chr9	109176554	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=785;ExcessHet=0.0000;FS=4.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-2.300e-02;SOR=1.153	GT:AD:DP:GQ:PL	0/1:46,37:83:99:885,0,1177	20	0	1	0
chr9	110048727	110048727	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon1:c.G28T:p.A10S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.325	B	0.106	B	.	.	1.000	N	.	.	1.46	T	-1.021	T	0.086	T	0.095	1.410	10.65	1.55	0.227	0.324	9.779	0.028	0.0312468597258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.177	0.29740	T	0.325	0.33132	B	0.106	0.31143	B	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.46028	T	-0.04	0.07590	N	0.149	0.19190	-1.0211	0.23357	T	0.086	0.33298	T	8	0.08898917	0.15375	T	0.031247	0.53376	D	0.028	0.06331	0.244	0.17830	0.359557344763	0.35564	0.014612747631774546	0.01418	.	.	.	.	.	.	.	.	-0.256374	0.13327	T	-0.60604	0.12308	T	0.137724639493122	0.16077	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	-4.131	0.25745	T	.	.	0.134	0.28976	B	.;.	.;.	1.109507	0.14948	11.46	0.82623069034029506	0.14288	0.04271	0.09807	N	ALL	0.037682	0.05218	N	-0.722100060433466	0.15401	0.7758523	-0.830861522409075	0.13749	0.714898	0.999999803708059	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.59	1.55	0.22356	0.490000	0.22112	1.135000	0.24358	0.675000	0.71128	0.001000	0.13787	0.002000	0.18203	0.010000	0.09038	0.0:0.4213:0.5787:0.0	9.779	0.39804	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	817.98	28	chr9	110048727	.	G	T	817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.370e-01;DP=500;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.72;ReadPosRankSum=1.10;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,21:36:99:0|1:110048727_G_T:832,0,506:110048727	20	0	1	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.977	D	0.000	D	1.000	D	1.7	L	1.73	T	-0.985	T	0.112	T	0.879	3.429	17.60	5.4	2.524	7.443	19.183	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	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	0.04762	2125.11	37	chr9	112838537	.	C	T	2125.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=826;ExcessHet=0.1072;FS=3.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.760;SOR=0.449	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1240,0,1026	19	0	2	0
chr9	113479495	113479495	G	C	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_017790:exon2:c.G84C:p.Q28H	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.972	D	0.517	P	0.001	N	1.000	D	1.75	L	0.87	T	-0.561	T	0.340	T	0.428	2.561	14.52	1.31	0.079	1.860	6.490	0.182	0.0432851632822	0.0009	0.00119808	0.0020	0	0	0.0028	0.0062	0.0024	0.0066	0.0006	0.0017982	278	154602	rs145020127	0.0013	0.0013	0.0012	0.0013	0.0015	0.0012	0.0012	0.0012	0.0011	8.961e-05	0	0.0044	0.0015	0.0060	0.0009	0.0011	0.0017	0.0006	0.0015	0.0015	0.0011	0.0018	0.0017	0.0013	0.0012	0.0012	0.0011	0.0002	0	0	0.0037	0.0017	0.0087	0	0.0014	0.0014	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.972	0.57405	D	0.517	0.48105	P	0.001105	0.40219	N	0.097223	0.998305	0.22236	N	2.42	0.70002	M	-1.06	0.76819	T	-1.14	0.44657	N	0.711	0.72209	-0.5609	0.66369	T	0.340	0.70608	T	10	0.01401636	0.00322	T	0.043285	0.60905	D	0.182	0.45420	0.447	0.50629	0.572862713182	0.56953	0.28183424560469206	0.28096	0.405664431378	0.41463	0.39607489109	0.24522	T	0.080791	0.36448	T	-0.280566	0.10607	T	-0.182575	0.56285	T	0.118185397579416	0.14251	T	0.729627	0.34527	T	0.41151494	0.61522	0.11889444	0.28699	0.41151494	0.61522	0.11889444	0.28699	-8.36	0.63498	D	.	.	0.654	0.74748	P	.;.;.	.;.;.	3.159371	0.42797	21.6	0.99532335804541738	0.69963	0.81372	0.40789	D	AEFDBI	0.248403	0.36881	N	-0.0714033338953107	0.38650	2.26698	-0.115878328385396	0.34750	2.002416	0.998655501380157	0.37392	0.740787	0.97801	0	0.563428	0.19063	0	0.767554	0.98243	0	0.567892	0.33627	0	.	.	4.22	1.31	0.20837	1.776000	0.38223	2.218000	0.31426	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.3189:0.0:0.6811:0.0	6.490	0.21306	841	0.37094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2029.98	35	chr9	113479495	.	G	C	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.160e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.88;SOR=0.717	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2044,0,2078	20	0	1	0
chr9	114361765	114361765	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.C1706T:p.T569M	.	.	410	1089	22	1	0	24	0.0108992	.	.	2826338	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.036	B	0.011	B	0.234	N	1.000	N	0.205	N	1.43	T	-1.039	T	0.019	T	0.09	0.665	7.563	-2.72	-0.661	-0.915	1.595	0.015	.	0.0068	0.00519169	0.0065	0.0015	0.0055	0.0001	0.0079	0.0088	0.0100	0.0035	0.0066752	1032	154602	rs45550039	0.0077	0.0077	0.0077	0.0076	0.0199	0.0076	0.0075	0.0169	0.0158	0.0017	0.0070	0.0065	2.519e-05	0.0083	0.0199	0.0085	0.0075	0.0030	0.0058	0.0058	0.0062	0.0054	0.0082	0.0055	0.0054	0.0074	0.0072	0.0013	0	0.0082	0.0072	0.0002	0.0103	0.0068	0.0079	0.0066	0.0029	0.129	0.27904	T	0.127	0.35455	T	0.036	0.20732	B	0.011	0.15521	B	0.234282	0.03539	N	1.544550	1	0.08975	N	1.375	0.34280	L	1.43	0.32958	T	-2.0	0.46503	N	0.107	0.13055	-1.0391	0.17587	T	0.019	0.07986	T	10	0.0032791793	0.00056	T	.	.	.	0.015	0.02232	.	.	0.604686531655	0.60152	0.10726145820988174	0.10655	0.0836533388131	0.09433	0.260488629341	0.04949	T	0.002514	0.01904	T	-0.648514	0.00074	T	-0.692646	0.06237	T	0.00118282534707189	0.00012	T	0.482752	0.14626	T	0.013942108	0.00075	0.03025895	0.01460	0.013942108	0.00075	0.03025895	0.01459	-5.684	0.44013	T	.	.	0.074	0.06341	B	.;.;.;.;.	.;.;.;.;.	-0.182056	0.03184	0.523	0.38005468494702371	0.02538	0.05762	0.11693	N	AEFBCI	0.034765	0.04364	N	-1.31496623235112	0.03503	0.1565954	-1.3568662141723	0.03725	0.1743749	0.999996869454886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.97	-2.72	0.05616	-0.658000	0.05429	-0.483000	0.08907	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4083:0.134:0.3203:0.1374	1.595	0.02502	702	0.57624	.;.;.;.;.	.	.	.	.	rs45550039	Likely benign	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	0.02381	2080.98	35	chr9	114361765	.	G	A	2080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=849;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=0.662;SOR=0.591	GT:AD:DP:GQ:PL	0/1:58,77:135:99:2095,0,1319	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	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	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,35:332:99:0|1:122724732_T_C:488,0,12255:122724732	2	0	12	7
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	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	.	.	.	.	.	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,22:312:51:0|1:122724732_T_C:51,0,12088:122724732	5	0	12	4
chr9	123382480	123382480	G	A	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2015T:p.S672L	.	.	411	1090	19	2	0	23	0.0104403	.	.	700791	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.001	B	0.078	N	1.000	N	0.715	N	3.61	T	-1.021	T	0.015	T	0.051	-2.449	0.003	1.79	0.547	0.977	6.514	0.014	.	0.0040	0.00778754	0.0065	0.0016	0.0022	0.0107	0.0015	0.0056	0.0100	0.0155	0.0058796	909	154602	rs149353656	0.0060	0.0060	0.0057	0.0063	0.0153	0.0059	0.0058	0.0136	0.0134	0.0009	0.0025	0.0124	0.0107	0.0018	0.0153	0.0054	0.0074	0.0143	0.0047	0.0047	0.0047	0.0046	0.0172	0.0044	0.0043	0.0142	0.0131	0.0013	0.0055	0.0035	0.0124	0.0143	0.0010	0.0204	0.0055	0.0038	0.0172	0.728	0.03834	T	0.503	0.11078	T	0.0	0.02946	B	0.0	0.01387	B	0.077858	0.21079	N	0.460627	1	0.08975	N	1.595	0.40691	L	3.61	0.04446	T	-0.06	0.07882	N	0.023	0.00407	-1.0214	0.23259	T	0.015	0.05801	T	10	0.0024849474	0.00037	T	.	.	.	0.014	0.01968	.	.	0.102598925029	0.09809	0.12039123068237156	0.11966	0.266882232416	0.29225	0.305937558413	0.11293	T	0.015785	0.13173	T	-0.716801	0.00029	T	-0.790087	0.02162	T	1.83875618510104e-05	0.00000	T	0.70293	0.31283	T	0.036001902	0.04347	0.033401318	0.02229	0.036001902	0.04346	0.033401318	0.02229	-3.822	0.21134	T	.	.	0.070	0.03301	B	.	.	-0.066293	0.03848	0.828	0.57446845061756979	0.05771	0.17242	0.19752	N	AEFGBI	0.119193	0.23274	N	-0.895122886856267	0.10958	0.5263013	-0.835137910138829	0.13645	0.7089742	0.997878044778746	0.36137	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.06	1.79	0.23992	1.143000	0.31164	2.951000	0.35712	-0.768000	0.03469	0.399000	0.26162	0.947000	0.28924	0.007000	0.07825	0.467:0.0:0.533:0.0	6.514	0.21436	379	0.83778	.	.	.	.	.	.	Likely benign	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	0.02381	1126.98	38	chr9	123382480	.	G	A	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=867;ExcessHet=0.0000;FS=4.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-9.400e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1141,0,1083	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	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	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,17,0:75:99:0|1:127707148_G_C:124,0,1686,297,1736,2033:127707148	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	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	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,17:75:99:0|1:127707148_G_C:124,0,1686:127707148	10	0	10	1
chr9	128998185	128998185	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon31:c.G3386A:p.R1129H,	.	.	433	1077	10	2	0	14	0.00645756	.	.	3207134	NUP188-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.086	B	0.012	B	0.000	N	0.998	D	1.01	L	1.4	T	-1.084	T	0.066	T	0.117	2.065	12.86	4.77	1.410	3.936	10.255	0.077	.	0.0002	0.00259585	0.0015	0	0.0003	0	0	0.0007	0.0011	0.0079	0.0013519	209	154602	rs186381323	0.0008	0.0008	0.0006	0.0010	0.0090	0.0008	0.0008	0.0072	0.0070	0.0003	0.0004	0.0022	2.519e-05	0	0.0090	0.0003	0.0011	0.0077	0.0007	0.0007	0.0006	0.0007	0.0083	0.0006	0.0005	0.0062	0.0055	0.0002	0	0.0003	0.0043	0	0	0.0068	0.0004	0.0009	0.0083	0.138	0.25873	T	0.165	0.30926	T	0.007	0.14184	B	0.003	0.08700	B	0.000231	0.47286	N	0.176282	0.998347	0.44796	D	0.55	0.14455	N	1.4	0.33630	T	-2.02	0.46503	N	0.141	0.14054	-1.0837	0.06646	T	0.066	0.27295	T	10	0.005835682	0.00130	T	.	.	.	0.077	0.22490	.	.	0.128874641272	0.12493	0.35485000547949463	0.35398	0.229058174001	0.25467	0.353543817997	0.18442	T	0.245562	0.61488	T	-0.560544	0.00252	T	-0.572973	0.15178	T	0.0297444108873606	0.01950	T	0.852415	0.53747	D	0.032001503	0.03145	0.042567488	0.05100	0.032001503	0.03144	0.042567488	0.05100	-4.893	0.35656	T	.	.	0.116	0.23360	B	.	.	3.071221	0.41283	21.3	0.97895637336838792	0.36704	0.90714	0.52122	D	AEFBI	0.205929	0.33223	N	-0.310460670020828	0.28749	1.588373	-0.139783740882639	0.33803	1.937555	0.999999918220726	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	4.77	0.60425	4.317000	0.58976	4.495000	0.43587	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.1671:0.0:0.8329:0.0	10.255	0.42571	908	0.22609	.	.	.	.	.	.	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	0.02381	1091.98	38	chr9	128998185	.	G	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=825;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-3.640e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:74,47:121:99:1106,0,1809	20	0	1	0
chr9	130385722	130385722	C	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon60:c.C9269A:p.A3090D,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.886e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs774303161	2.778e-05	2.189e-05	2.725e-05	2.833e-05	0.0002	2.01e-05	1.72e-05	2.007e-05	1.72e-05	0	0	0	0	0	0.0002	2.932e-05	4.805e-05	2.625e-05	6.574e-06	6.567e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.37820	.	.	.	.	.	.	.	0.118866414	0.22481	T	.	.	.	.	.	.	.	0.238705975628	0.23479	0.37223102023011784	0.37137	.	.	.	.	.	0.012741	0.11148	T	-0.233659	0.16167	T	-0.445633	0.28179	T	.	.	.	0.440256	0.12156	T	0.09450985	0.22221	0.14087301	0.33565	0.09450985	0.22221	0.14087301	0.33564	-8.504	0.64456	D	.	.	0.123	0.25624	B	.	.	1.722094	0.21921	15.41	0.96927135238486795	0.31640	0.13414	0.17842	N	AEFGBI	0.127461	0.24483	N	.	.	.	.	.	.	0.766944521605227	0.23603	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.1	2.17	0.26736	-0.091000	0.11111	0.530000	0.19240	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.0:0.603:0.1944:0.2026	4.544	0.11473	412	0.82007	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	36	chr9	130385722	.	C	A	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=864;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=-2.166e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1852,0,1451	20	0	1	0
chr9	131045555	131045555	C	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon8:c.C1414A:p.H472N,	Cortical malformations, occipital, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	264315	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.012	B	0.038	B	0.327	N	1.000	N	0.08	N	0.6	T	-1.028	T	0.069	T	0.188	-0.113	3.446	2.76	0.563	0.505	4.683	0.073	0.0288603285702	7.7e-05	.	5.776e-05	0	8.648e-05	0	0	6.006e-05	0	0.0001	4.53e-05	7	154602	rs145387373	6.704e-05	6.704e-05	6.671e-05	6.739e-05	0.0036	5.629e-05	5.172e-05	0.0024	0.0020	0	0.0001	0	0	3.755e-05	0.0036	4.406e-05	0.0001	0.0002	2.626e-05	2.624e-05	3.854e-05	1.342e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0.0005	0	0.445	0.09128	T	0.5	0.11190	T	0.012	0.16265	B	0.038	0.23361	B	0.327304	0.14172	N	0.712512	1	0.08975	N	0.295	0.10161	N	0.6	0.53731	T	-1.63	0.39119	N	0.276	0.31253	-1.0276	0.21233	T	0.069	0.28379	T	10	0.09288862	0.16395	T	0.02886	0.51467	D	0.073	0.21317	.	.	0.492336895404	0.48868	0.29340415923248847	0.29253	0.497249836479	0.48222	0.48203265667	0.36336	T	0.01972	0.15658	T	-0.381775	0.03036	T	-0.531124	0.19173	T	0.0154701301234127	0.00349	T	0.247375	0.03654	T	0.09379812	0.22037	0.07566095	0.16681	0.09379812	0.22037	0.07566095	0.16681	-8.287	0.63008	D	.	.	0.077	0.06571	B	.	.	2.005022	0.25474	16.78	0.72252446194154385	0.09908	0.13644	0.17972	N	AEFDBCI	0.184432	0.31176	N	-0.837410610723695	0.12362	0.6021044	-0.753006534780126	0.15649	0.8240599	0.999979196755915	0.50053	0.695654	0.57023	0	0.573078	0.20572	0	0.723109	0.80598	0	0.421638	0.06922	2	.	.	4.6	2.76	0.31527	0.096000	0.14986	1.035000	0.23510	0.599000	0.40250	0.000000	0.06391	0.353000	0.24482	0.119000	0.19126	0.0:0.6238:0.1801:0.1961	4.683	0.12129	421	0.81399	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1445.98	35	chr9	131045555	.	C	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.480e-01;DP=821;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.000e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1460,0,1385	20	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q,	Cortical malformations, occipital, Autosomal recessive	.	7	1498	15	2	0	19	0.00630182	.	.	192120	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.411	B	0.241	B	0.169	N	1.000	N	1.79	L	1.61	T	-1.046	T	0.072	T	0.061	0.436	6.366	1.1	0.014	1.838	8.466	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1139.98	40	chr9	131072668	.	G	C	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=865;ExcessHet=0.0000;FS=1.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-5.030e-01;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,45:82:99:0|1:131072662_A_G:1154,0,873:131072662	20	0	1	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K,	Cortical malformations, occipital, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	192121	Inborn_genetic_diseases|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.049	B	0.016	B	0.127	N	0.981	N	1.95	M	1.73	T	-1.087	T	0.044	T	0.326	3.107	16.38	4.0	2.476	1.907	10.794	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	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	0.02381	506.98	40	chr9	131072797	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-1.000e-02;SOR=0.578	GT:AD:DP:GQ:PL	0/1:31,20:51:99:521,0,838	20	0	1	0
chr9	131519447	131519447	C	G	exonic	POMT1	.	nonsynonymous SNV	POMT1:NM_001353200:exon13:c.C1089G:p.S363R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	172243	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1|Walker-Warburg_congenital_muscular_dystrophy|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1	MedGen:CN169374|MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812|MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.112	B	0.051	B	0.014	N	0.980	N	1.87	L	-1.44	T	-0.560	T	0.518	D	0.757	0.551	6.981	4.63	1.269	1.197	4.627	0.508	0.158554645332	0.0007	0.000599042	0.0016	0	0.0026	0	0	0.0023	0.0053	0.0014	0.0006533	101	154602	rs150367385	0.0012	0.0011	0.0011	0.0012	0.0209	0.0011	0.0011	0.0178	0.0167	0.0005	0.0033	0.0034	0	0.0007	0.0209	0.0010	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0028	0.0011	0.0010	0.0021	0.0019	0.0004	0	0.0028	0.0037	0	0.0008	0.0102	0.0013	0.0047	0.0006	0.181	0.26300	T	0.401	0.38450	T	0.0	0.26290	B	0.003	0.25434	B	0.013522	0.28812	N	0.466395	0.979977	0.25145	N	1.575	0.39704	L	-1.59	0.89692	D	-1.05	0.29323	N	0.784	0.87157	-0.5605	0.66385	T	0.518	0.81951	D	10	0.015325069	0.00322	T	0.158555	0.83893	D	0.508	0.78848	0.655	0.79276	0.879825153453	0.87865	0.4723707741962653	0.47156	0.278320214035	0.30320	0.427245855331	0.28833	T	0.297146	0.66976	T	-0.123257	0.32593	T	0.0471233	0.73395	D	0.0129226239014529	0.00223	T	0.855914	0.54393	D	0.03669951	0.04566	0.057629783	0.10508	0.038118996	0.05018	0.046753403	0.06587	-4.638	0.33979	T	0.21541397568556714	0.28961	0.306	0.59986	B	.;.;.;.;.;.	.;.;.;.;.;.	2.589032	0.33582	19.38	0.87287446252699985	0.17120	0.87046	0.46470	D	AEFDGBCI	0.432311	0.49424	N	-0.273315332885108	0.30181	1.680578	-0.159350550316487	0.33051	1.886534	0.991744367034224	0.32594	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	4.63	0.57175	1.254000	0.32500	3.925000	0.40497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.321000	0.24994	0.1727:0.6348:0.0:0.1926	4.627	0.11867	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	0	0	1	0	0.04762	3433.11	43	chr9	131519447	.	C	G	3433.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.055e+00;DP=1058;ExcessHet=0.1072;FS=8.427;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.54;SOR=1.129	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1859,0,1813	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,101,0:101:99:3064,303,0,3064,303,3064	0	17	3	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2515.64	40	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	2515.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.100e-01;DP=838;ExcessHet=0.3300;FS=2.114;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.62;MQRankSum=-4.050e-01;QD=15.43;ReadPosRankSum=0.884;SOR=0.923	GT:AD:DP:GQ:PL	0/1:47,26:73:99:929,0,1835	18	0	3	0
chr9	134835104	134835104	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon65:c.C5270T:p.T1757M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	140617	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|not_provided|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.995	D	0.778	P	0.007	U	0.882	N	2.89	M	-0.85	T	-0.679	T	0.058	T	0.309	2.964	15.88	5.03	2.340	1.954	18.364	0.451	.	0.0014	0.0269569	0.0121	0.0009	0.0116	0.0882	0.0005	0.0019	0.0103	0.0249	0.0112806	1744	154602	rs2229817	0.0049	0.0049	0.0044	0.0053	0.0795	0.0048	0.0047	0.0772	0.0762	0.0006	0.0086	0.0148	0.0795	0.0003	0.0040	0.0006	0.0097	0.0220	0.0050	0.0051	0.0044	0.0057	0.0917	0.0047	0.0046	0.0849	0.0822	0.0008	0	0.0026	0.0127	0.0917	0.0002	0	0.0009	0.0057	0.0211	0.008	0.58626	D	0.044	0.49942	D	0.995	0.67487	D	0.778	0.57212	P	0.007178	0.31557	U	0.261183	0.882265	0.28028	N	2.655	0.77738	M	-0.85	0.74371	T	-2.2	0.49519	N	0.185	0.31365	-0.6790	0.61419	T	0.058	0.24317	T	10	0.0027009249	0.00042	T	.	.	.	0.451	0.75143	.	.	.	.	0.4858146501938287	0.48501	0.306892659518	0.32992	0.561442613602	0.47472	T	0.572343	0.85861	D	-0.380576	0.03090	T	-0.243791	0.50428	T	0.012884577986513	0.00221	T	0.918208	0.70605	D	0.31913874	0.54567	0.35206926	0.60791	0.3935818	0.60285	0.28474456	0.54473	-8.279	0.62955	D	0.26940633294760913	0.36267	0.091	0.19357	B	.;.	.;.	4.405581	0.68111	25.2	0.99758358737992425	0.84851	0.84546	0.43629	D	AEFDGBI	0.236355	0.35881	N	0.637509601434317	0.75562	6.328087	0.588344727769782	0.74101	6.080413	0.999899576348115	0.45129	0.67177	0.52595	0	0.659464	0.62310	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	2.331000	0.43552	3.899000	0.40339	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.965000	0.52897	0.0:1.0:0.0:0.0	18.364	0.90328	805	0.43675	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	0.04762	4458.11	35	chr9	134835104	.	C	T	4458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1089;ExcessHet=0.1072;FS=0.788;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.283;SOR=0.752	GT:AD:DP:GQ:PL	0/1:87,82:169:99:2151,0,2014	19	0	2	0
chr9	135818443	135818443	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon13:c.C4133T:p.S1378L,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2466090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.981	D	0.412	B	0.000	D	1.000	D	1.31	L	2.35	T	-1.130	T	0.044	T	0.148	2.791	15.29	4.55	1.298	6.281	14.186	0.088	0.018342401993	.	.	5.339e-05	0	0	0.0008	0	0	0	0	1.94e-05	3	154602	rs764373953	3.459e-06	4.788e-06	1.376e-06	5.565e-06	0.0001	1.01e-06	7.4e-07	3.472e-05	1.997e-05	0	0	0	0.0001	0	0	0	1.667e-05	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.669	0.04848	T	0.533	0.16522	T	0.082	0.59675	B	0.016	0.44859	B	0.000159	0.49130	D	0.184944	0.999336	0.52935	D	2.4	0.69460	M	2.35	0.16217	T	-1.13	0.29114	N	0.275	0.39254	-1.1299	0.01787	T	0.044	0.18906	T	10	0.0363667	0.01932	T	0.018342	0.40371	T	0.088	0.25558	0.273	0.22369	0.297458270211	0.29361	0.42860163435187854	0.42777	1.24102395754	0.81563	0.449537932873	0.31880	T	0.033007	0.22733	T	-0.441538	0.01267	T	-0.535756	0.18716	T	0.226663686266515	0.21791	T	0.969503	0.89155	D	0.06112475	0.12621	0.068027	0.14152	0.06112475	0.12621	0.068027	0.14152	-3.938	0.22873	T	.	.	0.091	0.13737	B	.;.;.	.;.;.	4.200644	0.63389	24.6	0.99584774969460743	0.73218	0.97946	0.78335	D	AEFDBI	0.681523	0.64485	D	0.139896179363168	0.48332	3.046971	0.208957130190346	0.50345	3.227434	0.999993750908642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	6.623000	0.74104	8.238000	0.76846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0721:0.0:0.9279:0.0	14.186	0.65144	577	0.69927	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.98	34	chr9	135818443	.	G	A	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.458;SOR=0.584	GT:AD:DP:GQ:PL	0/1:26,33:59:99:822,0,583	20	0	1	0
chr9	135821534	135821534	G	C	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.C3127G:p.Q1043E,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.779	P	0.000	D	0.999	D	2.28	M	2.61	T	-1.015	T	0.086	T	0.557	-0.673	1.061	4.73	2.310	5.480	18.071	0.151	0.0138849898337	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373185407	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.018	0.63109	D	0.994	0.66517	D	0.779	0.57244	P	0.000030	0.55875	D	0.123645	0.987307	0.46766	D	2.43	0.70455	M	2.61	0.13095	T	-1.37	0.33998	N	0.425	0.50868	-1.0152	0.25272	T	0.086	0.33298	T	10	0.27536973	0.45094	T	0.013885	0.33612	T	0.151	0.39764	.	.	0.443461608722	0.43965	0.4516497327469113	0.45082	0.201043316276	0.22505	0.417221397161	0.27455	T	0.039143	0.25088	T	-0.0985244	0.36671	T	-0.3793	0.35804	T	0.359305202960968	0.27382	T	0.887511	0.61533	D	0.13587745	0.31520	0.18059091	0.40869	0.13587745	0.31520	0.18059091	0.40868	-7.907	0.60435	D	.	.	0.121	0.41202	B	.;.;.	.;.;.	3.770467	0.54150	23.5	0.22615166021164876	0.00918	0.98468	0.83094	D	AEFDGBI	0.659041	0.63010	D	0.456643581647493	0.64582	4.715893	0.412702796836043	0.62356	4.449575	0.999999999655318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.564000	0.67060	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	18.071	0.89334	621	0.65931	.;.;.	.	.	.	.	.	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	0.02381	2383.98	33	chr9	135821534	.	G	C	2383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=871;ExcessHet=0.0000;FS=9.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-6.970e-01;SOR=0.825	GT:AD:DP:GQ:PL	0/1:90,90:180:99:2398,0,2242	20	0	1	0
chr9	136049674	136049674	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.A848G:p.Y283C,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.993	D	0.72	P	0.000	N	0.974	D	1.04	L	-0.77	T	-0.525	T	0.319	T	0.215	2.713	15.03	3.19	0.639	1.867	8.913	0.254	0.285552310052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.993	0.65571	D	0.72	0.54860	P	0.000009	0.62929	N	0.067227	0.973611	0.39038	D	2.49	0.72568	M	-0.77	0.73523	T	-2.95	0.61580	D	0.313	0.35514	-0.5248	0.67737	T	0.319	0.68848	T	10	0.37526828	0.53783	T	0.285552	0.90383	D	0.254	0.56428	0.343	0.33626	0.775124561867	0.77305	0.6360748828091852	0.63541	0.861284270804	0.68974	0.753834009171	0.75013	T	0.370359	0.73491	T	-0.0325623	0.47045	T	-0.28455	0.46337	T	0.978369653224945	0.72290	D	0.864914	0.56300	D	0.51301	0.67855	0.4039079	0.64833	0.51301	0.67856	0.4039079	0.64833	-4.541	0.31421	T	.	.	0.165	0.47687	B	.;.	.;.	3.240516	0.44233	21.9	0.99606783354259776	0.74575	0.86584	0.45895	D	AEFGI	0.316209	0.42056	N	0.157169394521113	0.49153	3.118827	0.143521318205641	0.46800	2.920111	0.746145300890868	0.23288	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.33	3.19	0.35720	2.020000	0.40630	1.870000	0.29381	0.654000	0.53741	0.862000	0.30648	0.991000	0.31484	0.979000	0.57723	0.0:0.0904:0.0:0.9096	8.913	0.34725	923	0.18507	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	982.98	38	chr9	136049674	.	T	C	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.154e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:39,35:74:99:997,0,1087	20	0	1	0
chr9	136378199	136378199	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.G3628A:p.G1210S,	.	.	408	1112	2	0	0	2	0.000898473	.	.	2761217	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.168	B	0.007	B	.	.	1.000	N	1.245	L	1.93	T	-1.004	T	0.032	T	0.045	0.538	6.914	-3.18	-0.438	0.042	1.179	0.037	0.00250019946327	.	0.000199681	8.097e-05	0	0	0.0009	0	1.832e-05	0	0	5.82e-05	9	154602	rs200938695	4.316e-05	4.378e-05	3.407e-05	5.233e-05	0.0003	3.447e-05	3.133e-05	0.0002	0.0002	2.988e-05	8.958e-05	0	0.0003	0	0	3.418e-05	6.631e-05	3.485e-05	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0010	3.514e-05	2.615e-05	0.0004	0.0002	0	0	6.533e-05	0	0.0010	0	0	1.47e-05	0.0005	0.0004	0.348	0.12386	T	0.697	0.05786	T	0.168	0.28654	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.93	0.22881	T	-0.01	0.07155	N	0.05	0.02179	-1.0037	0.28844	T	0.032	0.13898	T	9	0.014363289	0.00302	T	0.003	0.04980	T	0.037	0.09474	.	.	0.195762928549	0.19159	0.1532630617642188	0.15248	.	.	0.461072206497	0.33458	T	0.002706	0.02096	T	-0.623469	0.00105	T	-0.763433	0.02990	T	0.0108015490772629	0.00153	T	0.475652	0.14239	T	0.045414027	0.07428	0.03845591	0.03719	0.045414027	0.07428	0.03845591	0.03719	-2.61	0.06580	T	.	.	0.104	0.19032	B	.	.	-0.048165	0.03961	0.889	0.4170225288021186	0.03026	0.05807	0.11744	N	AEFDBHCI	0.045091	0.07334	N	-1.08920900110559	0.06841	0.3160766	-1.21524405668427	0.05664	0.2705282	0.989654412193588	0.31894	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.43	-3.18	0.04867	-0.067000	0.11538	-3.361000	0.02846	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1691:0.2215:0.1479:0.4616	1.179	0.01729	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1448.98	42	chr9	136378199	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=924;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-7.900e-02;SOR=0.870	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1463,0,1379	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:36,0,30:66:99:.:.:1114,1222,2734,0,1512,1420	7	0	2	0
chr10	1042681	1042681	C	A	exonic	IDI1	.	nonsynonymous SNV	IDI1:NM_001317957:exon3:c.G230T:p.R77L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.455	M	.	.	-0.031	T	0.451	T	0.949	2.076	12.90	4.5	2.172	1.666	17.565	0.438	0.0231426069282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.47320	T	0.225	0.25514	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	.	.	.	-5.13	0.89833	D	0.748	0.74735	-0.0311	0.81607	T	0.451	0.78497	T	9	0.6410034	0.69056	D	0.023143	0.46083	T	0.438	0.74235	0.546	0.66015	0.485776496936	0.48210	0.8143534831201408	0.81391	1.71623382196	0.90501	0.551358222961	0.46049	T	0.352491	0.71992	T	0.362202	0.87422	D	0.282501	0.87259	D	0.982598006725311	0.74586	D	0.966103	0.87589	D	0.8834416	0.89952	0.4324163	0.66828	0.8834416	0.89954	0.4324163	0.66828	-9.664	0.84905	D	.	.	0.165	0.40180	B	.;.;.	.;.;.	4.323204	0.66182	24.9	0.98560986662540329	0.42973	0.87043	0.46466	D	AEFDBI	0.541932	0.55788	D	0.316202522074733	0.56978	3.863778	0.156917150034923	0.47509	2.980108	0.999999999999971	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.5	4.5	0.54382	1.331000	0.33398	7.612000	0.61951	0.530000	0.24713	0.272000	0.25065	1.000000	0.68203	0.045000	0.14751	0.0:1.0:0.0:0.0	17.565	0.87814	624	0.65661	NUDIX hydrolase domain|NUDIX hydrolase domain;.;NUDIX hydrolase domain|NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	529.98	36	chr10	1042681	.	C	A	529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=759;ExcessHet=0.0000;FS=0.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=0.927;SOR=0.808	GT:AD:DP:GQ:PL	0/1:41,26:67:99:544,0,909	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.922	D	0.000	D	1.000	D	2.215	M	0.83	T	-0.583	T	0.277	T	0.463	4.549	24.6	5.85	2.233	6.714	16.230	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	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2167.68	42	chr10	29533429	.	T	C	2167.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.505;DP=907;ExcessHet=0.3300;FS=1.958;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.091;SOR=0.874	GT:AD:DP:GQ:PL	0/1:32,21:53:99:565,0,850	18	0	3	0
chr10	32728968	32728971	AAAT	-	exonic	CCDC7	.	frameshift deletion	CCDC7:NM_001321115:exon28:c.2750_2753del:p.N919Lfs*11,	.	.	505	1008	9	0	0	9	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00798722	0.0078	0.0019	0.0130	0	0.0032	0.0110	0.0167	0.0008	0.0020363	53	26028	rs202220321	0.0093	0.0094	0.0093	0.0092	0.0322	0.0091	0.0091	0.0283	0.0268	0.0019	0.0125	0.0090	5.082e-05	0.0034	0.0322	0.0105	0.0091	0.0008	0.0087	0.0088	0.0089	0.0086	0.0187	0.0084	0.0082	0.0169	0.0162	0.0023	0.0110	0.0187	0.0098	0	0.0033	0.0272	0.0121	0.0152	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	668.94	33	chr10	32728967	.	CAAAT	C	668.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.938;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-2.020e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:50,20:70:99:683,0,2039	20	0	1	0
chr10	47502708	47502708	C	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G1421A:p.R474H,	.	.	415	1085	19	3	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0029	0.0143	0	0	0	0	0	0	0.0005379	14	26028	rs1456306199	0.0011	0.0012	0.0008	0.0014	0.0098	0.0011	0.0011	0.0092	0.0090	0.0001	0.0001	0.0007	5.04e-05	0.0004	0.0090	0.0006	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0100	0.0007	0.0006	0.0077	0.0069	0.0003	0.0022	6.784e-05	0.0003	0.0002	0.0004	0.0174	0.0006	0.0015	0.0100	0.07	0.35349	T	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-3.69	0.70432	D	0.219	0.24510	.	.	.	.	.	.	.	0.011139333	0.00245	T	.	.	.	.	.	.	.	0.341460817117	0.33762	0.04041368958705708	0.03987	.	.	.	.	.	.	.	.	0.0361914	0.56543	T	-0.18579	0.55983	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-6.686	0.51705	T	.	.	0.100	0.16973	B	.	.	1.788199	0.22733	15.74	0.72366461872350973	0.09948	0.03806	0.09138	N	AEFI	.	.	.	.	.	.	.	.	.	1.49817134109118E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	0.984000	0.29163	-0.373000	0.09593	0.148000	0.17689	0.001000	0.13787	0.000000	0.08366	0.063000	0.16184	2.0E-4:0.5106:0.4891:1.0E-4	3.703	0.07919	.	.	.	.	.	.	.	.	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	0.04762	4701.11	43	chr10	47502708	.	C	T	4701.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.99;DP=2136;ExcessHet=0.1072;FS=1.841;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.62;MQRankSum=4.87;QD=8.13;ReadPosRankSum=-1.101e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:185,100:285:99:2475,0,4335	19	0	2	0
chr10	48232232	48232232	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon8:c.G979A:p.G327R	.	.	434	1075	13	0	0	13	0.00601017	.	.	2813135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	.	.	1.000	D	2.865	M	-1.27	T	0.273	D	0.561	D	0.795	3.403	17.49	4.53	1.299	5.121	12.122	0.653	.	0.0043	0.00219649	0.0056	0.0012	0.0030	0.0001	0.0224	0.0068	0.0022	0.0021	0.0054139	837	154602	rs116143480	0.0054	0.0055	0.0054	0.0055	0.0055	0.0053	0.0053	0.0054	0.0054	0.0007	0.0037	0.0005	0.0001	0.0207	0.0023	0.0055	0.0049	0.0023	0.0055	0.0055	0.0053	0.0057	0.0071	0.0052	0.0050	0.0066	0.0064	0.0012	0	0.0042	0.0003	0.0002	0.0206	0	0.0071	0.0038	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.99992	0.51308	D	3.175	0.88760	M	-1.27	0.79277	T	-6.75	0.92692	D	0.701	0.73105	0.273	0.87114	D	0.561	0.84045	D	9	0.012791216	0.00274	T	.	.	.	0.653	0.86936	0.704	0.84054	0.806080698872	0.80427	0.4573109912437428	0.45649	0.248615505204	0.27425	0.521223545074	0.41798	T	0.312983	0.90840	T	-0.104157	0.35736	T	0.0879978	0.76111	D	0.0714953666646391	0.08859	T	0.886711	0.63001	D	0.4570301	0.64486	0.42942518	0.66625	0.4570301	0.64486	0.42942518	0.66625	-9.197	0.72620	D	.	.	0.435	0.61475	A	.;.;.	.;.;.	3.202208	0.43554	21.8	0.99922589045449228	0.98852	0.94814	0.62421	D	AEFDBI	0.626908	0.60956	D	0.491545953725207	0.66594	4.970481	0.343712138144711	0.58131	3.981804	0.999999998794507	0.74766	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.44	4.53	0.55009	5.406000	0.66100	2.831000	0.35021	0.599000	0.40250	0.994000	0.38300	0.983000	0.30585	0.044000	0.14658	0.0:0.9161:0.0:0.0839	12.122	0.53196	976	0.04745	FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.	.	.	.	.	rs116143480	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2614.11	34	chr10	48232232	.	C	T	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=972;ExcessHet=0.1072;FS=9.341;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=1.78;SOR=1.097	GT:AD:DP:GQ:PL	0/1:91,62:153:99:1410,0,2069	19	0	2	0
chr10	48970201	48970201	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon57:c.C8840T:p.T2947M,	.	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	B	0.104	B	0.920	N	1.000	N	0.385	N	1.58	T	-1.037	T	0.013	T	0.406	-0.763	0.779	-10.9	-2.700	-1.589	15.648	0.070	.	0.0046	0.00858626	0.0070	0.0005	0.0025	0.0177	0.0347	0.0085	0.0049	0.0042	0.0023544	364	154602	rs41283303	0.0078	0.0075	0.0078	0.0079	0.0314	0.0077	0.0076	0.0299	0.0293	0.0012	0.0025	0.0012	0.0314	0.0228	0.0019	0.0072	0.0067	0.0041	0.0068	0.0068	0.0063	0.0073	0.0293	0.0064	0.0063	0.0255	0.0241	0.0012	0.0186	0.0018	0.0006	0.0293	0.0190	0	0.0081	0.0057	0.0044	0.469	0.08508	T	0.448	0.13030	T	0.106	0.26037	B	0.022	0.19653	B	0.919896	0.07470	N	1.037450	1	0.08975	N	0.49	0.13296	N	1.58	0.29085	T	-0.12	0.08809	N	0.156	0.16168	-1.0366	0.18357	T	0.013	0.04843	T	9	0.0039949715	0.00077	T	.	.	.	0.070	0.20419	.	.	0.0297737177859	0.01360	0.38725607263372386	0.38640	.	.	0.250243425369	0.03793	T	0.009171	0.08364	T	-0.553891	0.00276	T	-0.551483	0.17184	T	0.0109182422497646	0.00157	T	0.137586	0.01095	T	0.010457726	0.00008	0.023117611	0.00327	0.010457726	0.00008	0.023117611	0.00327	-4.054	0.24609	T	.	.	0.056	0.00496	B	.	.	-1.350813	0.00397	0.008	0.27631161462880305	0.01381	0.03422	0.08551	N	AEFDBCI	0.063476	0.12268	N	-2.04379646653779	0.00170	0.007286304	-2.16560268350352	0.00133	0.005872333	0.995641359668847	0.34242	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.45	-10.9	0.00151	-1.536000	0.02312	-4.302000	0.02229	-2.883000	0.00166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0883:0.66:0.0:0.2517	15.648	0.76822	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2949.11	35	chr10	48970201	.	C	T	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=943;ExcessHet=0.1072;FS=2.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=2.20;SOR=0.820	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1713,0,1581	19	0	2	0
chr10	49107954	49107954	C	T	exonic	VSTM4	.	nonsynonymous SNV	VSTM4:NM_001031746:exon2:c.G97A:p.V33M	.	.	429	1080	13	0	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.933	D	0.077	N	0.997	N	1.59	L	-0.22	T	-0.705	T	0.319	T	0.337	3.385	17.42	3.96	2.750	1.187	4.244	0.143	0.0131571431453	0.0011	0.000599042	0.0015	0.0003	0.0004	0	0	0.0019	0.0037	0.0020	0.0010026	155	154602	rs148517338	0.0012	0.0012	0.0012	0.0013	0.0059	0.0012	0.0012	0.0044	0.0038	9.037e-05	0.0006	3.866e-05	2.539e-05	3.79e-05	0.0059	0.0013	0.0016	0.0023	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0004	0.0006	0	0	0.0102	0.0015	0.0014	0.0008	0.019	0.53900	D	0.235	0.50226	T	0.999	0.77913	D	0.921	0.66815	D	0.076635	0.21151	N	0.530532	0.996761	0.22909	N	2.175	0.60977	M	-0.22	0.66474	T	-0.61	0.20791	N	0.165	0.23253	-0.7047	0.60212	T	0.319	0.68813	T	10	0.02429533	0.00663	T	0.013157	0.32344	T	0.143	0.38195	.	.	0.677134000145	0.67439	0.5292290068773372	0.52846	0.355680316561	0.37321	0.651309609413	0.60171	T	0.074755	0.35016	T	-0.363331	0.03946	T	-0.307906	0.43882	T	0.0307017693348963	0.02099	T	0.865313	0.57103	D	0.063840926	0.13485	0.07126395	0.15241	0.063840926	0.13484	0.07126395	0.15241	-6.062	0.49899	T	.	.	0.145	0.42706	B	.;.	.;.	4.443698	0.69020	25.3	0.99865748413306032	0.94366	0.26880	0.23119	N	AEFDBI	0.144660	0.26768	N	0.476844006853985	0.65742	4.860716	0.449637236952505	0.64694	4.730462	0.999994314011266	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	5.83	3.96	0.45097	1.237000	0.32298	2.637000	0.33729	0.599000	0.40250	0.643000	0.28111	0.993000	0.31925	0.980000	0.58198	0.21:0.6138:0.0:0.1762	4.244	0.10117	.	.	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1325.11	43	chr10	49107954	.	C	T	1325.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=853;ExcessHet=0.1072;FS=0.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.762;SOR=0.556	GT:AD:DP:GQ:PL	0/1:41,29:70:99:714,0,1074	19	0	2	0
chr10	75058442	75058442	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon2:c.G73A:p.E25K	.	.	407	1096	19	0	0	19	0.0085934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.013	B	0.015	B	0.409	N	1.000	N	0.895	L	3.52	T	-0.940	T	0.010	T	0.274	0.696	7.717	4.2	1.126	2.274	12.708	0.088	.	0.0061	0.00638978	0.0058	0.0063	0.0044	0	0.0009	0.0081	0.0077	0.0023	0.0060413	934	154602	rs149144570	0.0057	0.0057	0.0057	0.0058	0.0309	0.0056	0.0056	0.0272	0.0257	0.0069	0.0036	0.0103	0	0.0015	0.0309	0.0061	0.0069	0.0024	0.0062	0.0062	0.0063	0.0062	0.0094	0.0059	0.0058	0.0082	0.0077	0.0052	0.0011	0.0094	0.0092	0.0002	0.0004	0.0476	0.0074	0.0114	0.0019	0.14	0.25664	T	0.403	0.14865	T	0.013	0.16609	B	0.015	0.17295	B	0.408525	0.04577	N	1.423790	0.999998	0.08975	N	1.5	0.37844	L	3.52	0.04905	T	-0.2	0.10136	N	0.516	0.54671	-0.9397	0.42664	T	0.010	0.03673	T	10	0.0051972866	0.00113	T	.	.	.	0.088	0.25558	.	.	0.352693368174	0.34879	0.5131266602187011	0.51234	0.524778599701	0.50156	0.335973441601	0.15835	T	0.005079	0.04516	T	-0.569727	0.00222	T	-0.580762	0.14476	T	0.00517743212404494	0.00056	T	.	.	.	0.1254696	0.29413	0.11989663	0.28937	0.1254696	0.29413	0.11989663	0.28936	-4.661	0.32929	T	.	.	0.080	0.07889	B	.	.	1.313447	0.17168	13.00	0.96782459248031616	0.31079	0.65480	0.32752	D	AEFDGBHCI	0.102281	0.20521	N	-0.402137600320031	0.25394	1.378178	-0.277786410872894	0.28832	1.610606	0.999999761661216	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	4.2	0.48814	1.591000	0.36275	1.182000	0.24703	0.530000	0.24713	0.813000	0.29893	0.016000	0.20520	0.105000	0.18517	0.0:0.8339:0.1661:0.0	12.708	0.56440	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	0.02381	1976.98	33	chr10	75058442	.	C	T	1976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=876;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=1.12;SOR=0.929	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1991,0,1854	20	0	1	0
chr10	87961005	87961005	A	G	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon8:c.A913G:p.S305G	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	233873	Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.001	N	1.000	D	0.83	L	-3.49	D	0.114	D	0.672	D	0.322	2.978	15.93	5.13	1.942	6.312	14.923	0.214	0.1212646141	.	.	8.251e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775461980	1.368e-06	1.368e-06	0	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.23450	T	0.235	0.24767	T	0.0	0.02946	B	0.0	0.01387	B	0.001378	0.39242	N	0.326575	0.999966	0.52935	D	2.215	0.62545	M	-3.49	0.94621	D	-0.73	0.20576	N	0.396	0.43706	0.114	0.84431	D	0.672	0.88650	D	9	0.30101228	0.47645	T	0.121265	0.80199	D	0.214	0.50650	0.376	0.38994	0.884054903663	0.88292	0.61575518438823	0.61507	1.06060620683	0.76461	0.600383281708	0.52958	T	0.666569	0.90056	D	0.0588403	0.59468	T	-0.0564024	0.66582	D	0.436575323343277	0.30303	T	0.813219	0.46599	T	0.11658209	0.27496	0.08884283	0.20740	0.11658209	0.27496	0.08884283	0.20740	-0.745	0.00757	T	0.1292427122168075	0.13476	0.069	0.03887	B	.;.	.;.	3.303809	0.45360	22.1	0.99249717889604838	0.56825	0.99312	0.94338	D	AEFGBI	0.876987	0.80133	D	-0.0697207633882899	0.38726	2.273	0.127743322438425	0.45974	2.851162	0.999999999995036	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.13	5.13	0.69729	5.229000	0.65144	9.266000	0.79598	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.923	0.70499	900	0.24599	Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4808.98	72	chr10	87961005	.	A	G	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.892e+00;DP=2082;ExcessHet=0.0000;FS=3.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.49;MQRankSum=-5.550e-01;QD=12.05;ReadPosRankSum=0.378;SOR=0.544	GT:AD:DP:GQ:PL	0/1:190,209:399:99:4823,0,4786	20	0	1	0
chr10	92637538	92637538	A	T	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon16:c.A2153T:p.H718L,	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	253912	not_specified|Microcephaly_with_or_without_chorioretinopathy,_lymphedema,_or_intellectual_disability|not_provided	MedGen:CN169374|MONDO:MONDO:0007918,MedGen:C1835265,OMIM:152950,Orphanet:2526|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.716	P	0.232	B	0.001	D	1.000	D	0.805	L	0.2	T	-1.084	T	0.042	T	0.369	1.388	10.57	4.55	2.035	4.511	10.447	0.089	.	.	0.00778754	0.0022	9.658e-05	8.657e-05	0.0294	0	0	0.0022	0.0005	0.0021798	337	154602	rs116942055	0.0008	0.0008	0.0008	0.0008	0.0229	0.0007	0.0007	0.0217	0.0212	3.072e-05	0	0	0.0229	0	0	1.353e-05	0.0028	0.0005	0.0012	0.0012	0.0011	0.0013	0.0297	0.0011	0.0010	0.0258	0.0244	0.0001	0	0.0010	0	0.0297	0	0	7.349e-05	0.0014	0.0010	0.141	0.25560	T	0.553	0.09329	T	0.716	0.42206	P	0.232	0.38314	B	0.000773	0.41888	D	0.238470	0.999977	0.53665	D	1.975	0.53506	M	0.2	0.60111	T	-0.79	0.21860	N	0.422	0.46180	-1.0841	0.06572	T	0.042	0.18202	T	10	0.004766315	0.00101	T	.	.	.	0.089	0.25827	.	.	0.547203082319	0.54374	0.6200144964925588	0.61934	0.361961458071	0.37848	0.461340606213	0.33494	T	0.122092	0.44552	T	-0.377604	0.03226	T	-0.290803	0.45689	T	0.0205311435566458	0.00753	T	0.476352	0.14285	T	0.099239774	0.23417	0.09250361	0.21802	0.099239774	0.23417	0.09250361	0.21802	-2.669	0.07046	T	0.12563107142854985	0.12533	0.133	0.28807	B	.	.	3.563566	0.50150	22.9	0.96105876353627695	0.28727	0.96722	0.70589	D	AEFDGBI	0.336434	0.43455	N	0.0559622864744405	0.44418	2.716178	0.144184862883595	0.46835	2.923061	0.992323589605736	0.32799	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.55	4.55	0.55429	4.406000	0.59506	10.761000	0.83698	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	10.447	0.43689	522	0.74218	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1984.98	39	chr10	92637538	.	A	T	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.283;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.663;SOR=0.663	GT:AD:DP:GQ:PL	0/1:95,84:179:99:1999,0,2401	20	0	1	0
chr10	97572598	97572598	G	C	exonic	ANKRD2	.	nonsynonymous SNV	ANKRD2:NM_001291218:exon1:c.G149C:p.G50A,	.	.	372	1143	7	0	0	7	0.00305277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	.	.	.	.	.	.	.	.	0.0059551	155	26028	rs41290450	0.0038	0.0034	0.0038	0.0037	0.0735	0.0037	0.0036	0.0711	0.0701	0.0002	0.0003	0.0021	0.0735	0.0226	0.0006	0.0005	0.0064	0.0027	0.0055	0.0055	0.0043	0.0067	0.0711	0.0052	0.0050	0.0651	0.0627	0.0005	0	0.0024	0.0026	0.0711	0.0264	0	0.0013	0.0061	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1049.98	33	chr10	97572598	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=1004;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-6.880e-01;SOR=0.377	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1064,0,1119	20	0	1	0
chr10	97679697	97679697	G	T	exonic	AVPI1	.	nonsynonymous SNV	AVPI1:NM_021732:exon2:c.C209A:p.A70D,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.856	P	.	.	0.986	D	1.895	L	0.31	T	-0.504	T	0.198	T	0.774	4.379	23.1	5.09	2.637	4.733	17.424	0.264	.	0.0002	0.00479233	0.0019	0.0004	8.807e-05	0.0256	0	0	0.0011	0.0002	0.0018628	288	154602	rs117859077	0.0006	0.0006	0.0006	0.0006	0.0175	0.0006	0.0006	0.0164	0.0160	8.961e-05	0.0002	0	0.0175	0	0	6.295e-06	0.0029	0.0001	0.0009	0.0009	0.0008	0.0010	0.0245	0.0008	0.0008	0.0210	0.0197	9.62e-05	0	0.0003	0	0.0245	0	0	0	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.856	0.61001	P	.	.	.	.	0.985712	0.40324	D	2.25	0.63811	M	0.31	0.58613	T	-4.52	0.78302	D	0.834	0.82964	-0.5039	0.68509	T	0.198	0.55357	T	9	0.008652985	0.00196	T	.	.	.	0.264	0.57741	.	.	0.806097659105	0.80428	0.6702710605043344	0.66965	0.22043886262	0.24588	0.544473767281	0.45078	T	0.208157	0.56802	T	-0.188175	0.22526	T	-0.0200799	0.69024	D	0.0874558709819365	0.10912	T	0.723528	0.33695	T	0.8398534	0.86598	0.86082256	0.92235	0.8398534	0.86599	0.86082256	0.92236	-4.475	0.30560	T	.	.	0.7	0.72959	P	.	.	4.844974	0.79132	27.0	0.99765450835130587	0.85417	0.84461	0.43543	D	AEFBCI	0.594975	0.58970	D	0.659828352913795	0.77008	6.592444	0.650354476510225	0.78636	6.91644	0.999999880666485	0.74766	0.460665	0.09802	0	0.550933	0.16991	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	4.794000	0.62175	11.812000	0.96965	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.424	0.87413	529	0.73716	Arginine vasopressin-induced protein 1/transcriptional and immune response regulator	.	.	.	.	.	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	0.02381	997.98	34	chr10	97679697	.	G	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.456e+00;DP=890;ExcessHet=0.0000;FS=3.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.312e+00;SOR=0.604	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1012,0,1641	20	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A	Cocoon syndrome	.	9	1467	42	4	0	50	0.016756	.	.	1278497	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.88	T	0.001	B	0.005	B	0.014	N	0.529	N	-0.405	N	-0.1	T	-1.051	T	0.011	T	0.193	-0.720	0.908	4.72	1.036	2.628	8.846	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1552.98	33	chr10	100220598	.	A	G	1552.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.880e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-2.160e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:43,64:107:99:1567,0,1003	20	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E	.	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.001	N	0.968	N	-0.06	N	-0.27	T	-1.065	T	0.013	T	0.151	-0.992	0.273	2.16	0.471	1.316	6.369	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1668.98	36	chr10	100291342	.	T	C	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=877;ExcessHet=0.0000;FS=3.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.635;SOR=1.018	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1683,0,1953	20	0	1	0
chr10	104002575	104002575	A	T	exonic	SLK	.	nonsynonymous SNV	SLK:NM_001304743:exon9:c.A1397T:p.N466I	.	.	433	1085	4	0	0	4	0.00183993	.	.	3333216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.603	P	0.316	B	0.563	N	1.000	N	1.5	L	-0.41	T	-0.892	T	0.204	T	0.161	-0.161	3.213	-0.891	-0.081	0.030	7.500	0.069	0.0318210236455	.	.	2.517e-05	0	0	0	0	4.564e-05	0	0	1.94e-05	3	154602	rs752412807	1.446e-05	1.437e-05	1.646e-05	1.245e-05	0.0002	9.29e-06	7.89e-06	1.098e-05	8.85e-06	0	2.309e-05	0	0	0	0.0002	1.717e-05	0	0	4.598e-05	5.253e-05	3.854e-05	5.378e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	0	0	6.545e-05	0	0	0	0	5.878e-05	0.0005	0.0002	0.003	0.68238	D	0.195	0.29639	T	0.603	0.39389	P	0.316	0.41603	B	0.563482	0.11312	N	0.821570	1	0.08975	N	2.14	0.59869	M	-0.41	0.69536	T	-0.74	0.21860	N	0.129	0.12341	-0.8925	0.48713	T	0.204	0.56183	T	10	0.11614436	0.21900	T	0.031821	0.53806	D	0.069	0.20116	0.178	0.08503	0.701836728922	0.69925	0.10179081837209131	0.10110	0.0508659047656	0.05589	0.327637791634	0.14578	T	0.01121	0.10028	T	-0.343175	0.05172	T	-0.412651	0.31919	T	0.0588820059332775	0.06991	T	0.658834	0.26791	T	0.0973756	0.22953	0.061638534	0.11934	0.0973756	0.22952	0.061638534	0.11933	-3.908	0.22423	T	.	.	0.089	0.12037	B	.;.	.;.	1.092728	0.14763	11.31	0.89331112437497218	0.18705	0.29759	0.23906	N	AEFBI	0.120866	0.23525	N	-0.624469434555349	0.18212	0.9436502	-0.717857667965239	0.16516	0.8740774	0.777147719998097	0.23771	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	-0.891	0.10038	-0.257000	0.08765	0.125000	0.14969	0.658000	0.54486	0.000000	0.06391	0.012000	0.20211	0.052000	0.15357	0.4618:0.1254:0.4128:0.0	7.500	0.26683	66	0.97223	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	586.98	34	chr10	104002575	.	A	T	586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.052e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:32,19:51:99:601,0,904	20	0	1	0
chr10	116849675	116849675	G	T	exonic	ENO4	.	stopgain	ENO4:NM_001242699:exon1:c.G109T:p.E37X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.702	38	4.88	2.415	5.674	15.309	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs769289614	5.009e-06	5.472e-06	2.824e-06	7.255e-06	7.582e-05	2.08e-06	1.34e-06	3.219e-05	2.185e-05	0	0	0	0	0	0	9.271e-07	0	7.582e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.402	0.44283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447655	0.92377	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.716768	0.99245	42	0.99694766009806213	0.80180	0.87060	0.46488	D	ALL	0.087599	0.17761	N	1.05866267486128	0.97290	15.88335	0.896417728169408	0.95414	13.59955	0.999999999988984	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	4.88	4.88	0.63131	5.627000	0.67460	11.651000	0.93884	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.309	0.73720	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1374.98	36	chr10	116849675	.	G	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-01;DP=781;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.911;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:116849675_G_T:1389,0,2103:116849675	20	0	1	0
chr10	116849676	116849676	A	T	exonic	ENO4	.	nonsynonymous SNV	ENO4:NM_001242699:exon1:c.A110T:p.E37V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.045	M	-0.54	T	0.497	D	0.666	D	0.747	4.382	23.2	4.88	1.956	5.377	12.302	0.586	0.560892834617	.	.	0.0002	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs774862348	5.009e-06	5.472e-06	2.824e-06	7.255e-06	7.583e-05	2.08e-06	1.34e-06	3.219e-05	2.185e-05	0	0	0	0	0	0	9.271e-07	0	7.583e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.119	0.92824	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.950867	0.37714	D	2.255	0.64187	M	-1.55	0.81727	D	0.3	0.76094	N	0.546	0.74098	0.497	0.90507	D	0.666	0.88429	D	10	0.73480844	0.74546	D	0.560893	0.95991	D	0.586	0.83416	0.346	0.34112	0.767995865156	0.76587	0.7463072351390088	0.74576	.	.	0.534007668495	0.43599	T	0.22358	0.58777	T	0.0837166	0.62474	D	0.0794481	0.75540	D	0.795965373516083	0.46082	D	0.846715	0.52677	T	0.5089215	0.67617	0.35726517	0.61224	0.5089215	0.67618	0.35726517	0.61223	-4.708	0.76669	T	.	.	0.669	0.81672	P	.;.;.	.;.;.	5.481524	0.91382	32	0.99278519116820407	0.57834	0.85771	0.44941	D	ALL	0.604695	0.59569	D	0.641924545479751	0.75848	6.378882	0.605065065570085	0.75308	6.287428	0.999999999893709	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.47417	0.07244	0	0.618803	0.45993	0	.	.	4.88	4.88	0.63131	5.246000	0.65232	11.045000	0.85225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	12.302	0.54203	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1374.98	36	chr10	116849676	.	A	T	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.942e+00;DP=779;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.972;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:116849675_G_T:1389,0,2103:116849675	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,45:124:99:.:.:684,0,2029	4	0	10	7
chr10	118754453	118754453	C	G	exonic	CACUL1	.	nonsynonymous SNV	CACUL1:NM_153810:exon1:c.G310C:p.A104P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	P	0.086	B	0.750	N	1.000	N	0.55	N	.	.	-1.085	T	0.052	T	0.427	3.074	16.26	3.8	1.106	2.699	11.26	0.087	0.0280393219046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751752914	2.783e-06	4.104e-06	1.381e-06	4.206e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.724e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.084	0.41239	T	0.567	0.38485	P	0.086	0.29521	B	0.749615	0.09711	N	0.876384	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.52	0.16187	N	0.265	0.30004	-1.0845	0.06498	T	0.052	0.22269	T	8	0.15994063	0.30038	T	0.028039	0.50772	D	0.087	0.25287	0.356	0.35734	0.082315109003	0.07666	0.4367056953390529	0.43587	0.496345723792	0.48149	0.559044003487	0.47134	T	0.030914	0.21799	T	0.0989925	0.64183	D	-0.0955806	0.63737	T	0.479781925678253	0.31889	T	0.637336	0.25103	T	0.24398005	0.47343	0.45843777	0.68534	0.24398005	0.47343	0.45843777	0.68534	-3.548	0.17110	T	.	.	0.085	0.10400	B	.	.	3.019788	0.40410	21.2	0.99492074326234325	0.67516	0.74590	0.36492	D	ALL	0.420169	0.48710	N	-0.103587479357698	0.37237	2.163494	0.0151424008811577	0.40417	2.411717	0.999999999976233	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.71	3.8	0.42887	2.011000	0.40542	2.550000	0.33259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9144:0.0:0.0856	11.26	0.48310	442	0.79946	.	.	.	.	.	.	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	0.02381	1792.98	34	chr10	118754453	.	C	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=845;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-2.480e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:56,79:135:99:1807,0,1334	20	0	1	0
chr10	122601911	122601911	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon19:c.C1961T:p.T654I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.357	B	0.493	P	0.258	N	1.000	N	-0.905	N	1.33	T	-1.011	T	0.045	T	0.056	-1.444	0.020	-2.35	-0.335	-0.180	6.075	0.067	0.00649608246251	.	.	1.779e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs779424059	0.0004	0.0040	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	0.0026	7.821e-05	4.235e-05	0.0016	0	0	6.795e-06	0.0006	0.0065	0.0007	0.0066	0.0006	0.0007	0.0095	0.0005	0.0005	0.0065	0.0055	0.0024	0	0.0003	0	0.0015	0	0	1.65e-05	0	0.0095	0.31	0.14111	T	0.354	0.18071	T	0.001	0.33788	B	0.002	0.47443	B	0.258100	0.03691	N	1.686660	1	0.08975	N	-0.96	0.01244	N	1.33	0.35031	T	0.63	0.03297	N	0.077	0.06322	-1.0107	0.26698	T	0.045	0.19356	T	10	0.031762272	0.01315	T	0.006496	0.17100	T	0.067	0.19503	0.554	0.67133	0.288352970974	0.28455	0.061284312012751536	0.06068	2.46693570349	0.97459	0.684967875481	0.64982	T	0.01889	0.15149	T	-0.336987	0.05600	T	-0.721835	0.04707	T	0.131508320569992	0.15521	T	0.89721	0.64041	D	0.025064997	0.01403	0.045664087	0.06193	0.025064997	0.01402	0.045664087	0.06193	-8.052	0.61424	D	.	.	0.194	0.47578	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.291768	0.06680	3.183	0.79692509004936574	0.12857	0.00163	0.00971	N	AEFBI	0.049450	0.08544	N	-1.34349798239185	0.03192	0.1422146	-1.36635440895224	0.03617	0.1690731	2.30309050818588E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-2.35	0.06302	0.219000	0.17426	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.573000	0.30723	0.0:0.1561:0.1645:0.6794	6.075	0.19137	771	0.49057	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	80.46	36	chr10	122601911	.	C	T	80.46	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.07;DP=585;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.025;MQ=24.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.520e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,4:7:65:94,0,65	19	0	1	1
chr10	122951983	122951983	C	T	exonic	C10orf88	.	nonsynonymous SNV	C10orf88:NM_024942:exon3:c.G412A:p.E138K,	.	.	573	945	3	1	0	5	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.513	P	0.096	B	0.033	U	0.987	D	2.32	M	.	.	-0.513	T	0.234	T	0.513	2.863	15.54	4.73	2.136	4.927	15.472	0.106	0.00485322877286	0.0007	0.000599042	0.0015	0	0.0007	0	0	0.0021	0.0038	0.0020	0.0011902	184	154602	rs150582565	0.0010	0.0010	0.0009	0.0011	0.0114	0.0009	0.0009	0.0091	0.0083	3.187e-05	0.0008	0.0076	0	0	0.0114	0.0008	0.0015	0.0020	0.0010	0.0010	0.0011	0.0009	0.0027	0.0009	0.0008	0.0021	0.0019	7.224e-05	0	0.0027	0.0043	0	9.457e-05	0.0034	0.0012	0.0024	0.0010	0.007	0.59928	D	0.009	0.66756	D	0.513	0.37366	P	0.096	0.30313	B	0.032546	0.25014	U	0.271410	0.987171	0.40547	D	1.765	0.45800	L	.	.	.	-3.42	0.67241	D	0.534	0.56231	-0.5133	0.68165	T	0.234	0.60063	T	9	0.006667465	0.00151	T	0.004853	0.12161	T	0.106	0.30130	.	.	0.496957384516	0.49330	0.5614624265725	0.56073	0.148761713675	0.16777	.	.	.	0.340236	0.70928	T	-0.278585	0.10817	T	-0.197572	0.54878	T	0.0409505058151343	0.03863	T	0.757724	0.38135	T	0.35918906	0.57774	0.31503505	0.57492	0.35918906	0.57774	0.31503505	0.57491	-6.238	0.48229	T	.	.	0.210	0.43775	B	.	.	3.332817	0.45886	22.2	0.99777545990360517	0.86433	0.94415	0.61092	D	AEFDBI	0.585688	0.58402	D	0.223032507511305	0.52316	3.406625	0.275391759491298	0.54107	3.576679	0.999999599990043	0.74766	0.643511	0.44296	0	0.627608	0.54475	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.73	4.73	0.59485	4.903000	0.62964	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.472	0.75176	905	0.23532	.	.	.	.	.	.	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	0.02381	116.98	33	chr10	122951983	.	C	T	116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=-2.010e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:11,6:17:99:131,0,269	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	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	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:64,20:86:8:8,0,902	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,18,40,0:71:99:.:.:1718,937,978,564,0,421,1563,1064,554,1624	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,18,40,0:71:99:.:.:1718,937,978,564,0,421,1563,1064,554,1624	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,32:110:99:0|1:124989533_G_A:1109,0,3005:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:94,26:120:99:598,0,3141	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:107,20:127:99:253,0,3004	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,13:134:63:.:.:63,0,4960	12	0	7	2
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,18:152:99:0|1:124994489_T_G:352,0,5572:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,21:166:99:0|1:124994489_T_G:445,0,5993:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,21:165:99:0|1:124994489_T_G:448,0,5931:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,29:181:99:0|1:124994523_G_A:602,0,6121:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:143,31:174:99:318,0,4393	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:133,36:169:99:458,0,3996	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,38:181:99:0|1:124994577_C_A:1113,0,5745:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,18:173:99:0|1:124998077_C_G:289,0,6412:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,18:173:99:0|1:124998077_C_G:289,0,6433:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,18:177:99:0|1:124998077_C_G:277,0,6622:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,18:178:99:0|1:124998077_C_G:274,0,6659:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,18:186:99:0|1:124998111_A_C:250,0,6939:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,18:189:99:0|1:124998111_A_C:241,0,7065:124998111	2	0	9	10
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,11:123:99:0|1:125003381_AC_A:125,0,4663:125003381	14	0	7	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,11:98:99:0|1:125003425_G_C:200,0,3620:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,7:94:32:0|1:125003425_G_C:32,0,3632:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,7:94:32:0|1:125003425_G_C:32,0,3632:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:47:0|1:125003425_G_C:47,0,3422:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,7:83:65:0|1:125003425_G_C:65,0,3170:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,7:84:62:0|1:125003425_G_C:62,0,3194:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,7:81:71:0|1:125003425_G_C:71,0,3068:125003425	9	0	7	5
chr10	125854184	125854184	T	G	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon4:c.A869C:p.E290A,	.	.	.	.	.	.	.	.	.	.	.	1978151	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.003	B	0.002	B	0.051	N	1.000	D	1.345	L	4.06	T	-1.011	T	0.013	T	0.43	1.214	9.927	4.77	1.057	4.911	11.113	0.111	0.00715753076531	.	0.000399361	8.38e-05	0	0	0.0005	0	9.151e-05	0	0	8.41e-05	13	154602	rs34050865	7.774e-05	7.73e-05	6.976e-05	8.581e-05	0.0002	6.57e-05	6.171e-05	0.0001	8.796e-05	0	4.638e-05	0.0018	0.0002	0	0.0002	3.875e-05	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0014	7.576e-05	6.281e-05	0.0006	0.0004	0	0	6.544e-05	0.0017	0.0014	0	0	4.411e-05	0.0005	0	0.217	0.19157	T	0.506	0.10967	T	0.003	0.11197	B	0.002	0.06944	B	0.051013	0.23020	N	0.504572	0.960994	0.81001	D	2.06	0.56677	M	4.06	0.03063	T	-1.34	0.33401	N	0.345	0.38643	-1.0110	0.26604	T	0.013	0.05129	T	10	0.019267142	0.00428	T	0.007158	0.18979	T	0.111	0.31313	.	.	0.383256108077	0.37933	0.34547312908998	0.34461	0.238005991446	0.26348	0.325648158789	0.14276	T	0.035308	0.23667	T	-0.327045	0.06338	T	-0.414067	0.31758	T	0.0542034837541044	0.06223	T	0.665033	0.27384	T	0.08119214	0.18643	0.049551796	0.07596	0.08119214	0.18642	0.049551796	0.07596	-6.742	0.52126	T	.	.	0.119	0.24498	B	.	.	2.167283	0.27613	17.52	0.96106056324999722	0.28730	0.98744	0.86296	D	AEFGBI	0.480970	0.52246	N	-0.200232042877847	0.33125	1.875784	-0.0787028595566196	0.36271	2.108777	0.998553983708972	0.37186	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.9	4.77	0.60425	4.932000	0.63178	6.072000	0.53266	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.072:0.0:0.928	11.113	0.47465	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	620.98	33	chr10	125854184	.	T	G	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=758;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-8.150e-01;SOR=1.155	GT:AD:DP:GQ:PL	0/1:45,25:70:99:635,0,1295	20	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N,	.	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	.	.	.	.	0.752	N	1.000	N	.	.	3.04	T	-1.010	T	0.027	T	0.022	-2.182	0.005	-0.649	-0.226	0.165	6.353	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	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	0.04762	2860.11	37	chr10	132922556	.	G	T	2860.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=1339;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.060;SOR=0.707	GT:AD:DP:GQ:PL	0/1:46,61:107:99:1377,0,1182	19	0	2	0
chr10	133201759	133201759	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon17:c.C3248T:p.P1083L,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.408	B	0.156	B	0.247	N	1.000	N	1.67	L	2.76	T	-1.030	T	0.027	T	0.207	3.178	16.63	3.39	0.925	-0.040	10.332	0.029	0.00816806431382	0.0008	0.000399361	0.0012	0.0005	0.0007	0	0.0048	0.0015	0	0.0003	0.0006792	105	154602	rs199987564	0.0013	0.0013	0.0014	0.0012	0.0015	0.0012	0.0012	0.0014	0.0014	0.0002	0.0004	0	0	0.0025	0.0006	0.0015	0.0012	6.308e-05	0.0010	0.0010	0.0008	0.0011	0.0014	0.0008	0.0008	0.0012	0.0011	0.0001	0	0.0001	0	0	0.0034	0	0.0014	0.0019	0.0002	0.367	0.11659	T	0.211	0.38305	T	0.296	0.35000	B	0.041	0.33210	B	0.246723	0.15595	N	0.531595	0.999988	0.19072	N	.	.	.	2.76	0.11515	T	-3.72	0.73151	D	0.125	0.11769	-1.0296	0.20583	T	0.027	0.11663	T	10	0.0051036477	0.00110	T	0.008168	0.21649	T	0.029	0.06676	.	.	0.136095386433	0.13204	0.21785105871575244	0.21701	0.193488600523	0.21683	0.617372751236	0.55357	T	0.105298	0.41564	T	-0.566737	0.00231	T	-0.637295	0.09868	T	0.0366104872313449	0.03088	T	0.666933	0.27600	T	0.05161446	0.09506	0.06641321	0.13602	0.05161446	0.09506	0.06641321	0.13602	-4.202	0.26780	T	.	.	0.077	0.12465	B	.;.	.;.	0.394110	0.07656	4.324	0.99249258903158122	0.56825	0.09750	0.15435	N	AEFDBI	0.085129	0.17257	N	-0.755441898802944	0.14485	0.721988	-0.820084943732764	0.14009	0.7297834	0.996354121272577	0.34689	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.3	3.39	0.37919	0.856000	0.27473	0.744000	0.21184	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.899:0.0:0.101	10.332	0.43013	994	0.00715	.;.	.	.	.	.	.	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	0.02381	1240.98	33	chr10	133201759	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=906;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.925e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1255,0,1306	20	0	1	0
chr10	133274164	133274164	C	A	exonic	ADAM8	.	stopgain	ADAM8:NM_001164490:exon2:c.G118T:p.E40X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.825e-06	0	0	0	0	1.7e-05	0	0	6.5e-06	1	154602	rs767036819	2.787e-06	5.472e-06	4.144e-06	1.406e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	1	0.81001	A	.	.	.	3.25	0.06762	T	-3.57	0.76740	D	0.4	0.44090	.	.	.	.	.	.	.	0.8232759	0.81519	D	.	.	.	.	.	.	.	0.730100223331	0.72770	0.8286708007495739	0.82825	0.597393025624	0.54938	0.715688109398	0.69418	T	0.300441	0.67293	T	0.420644	0.91054	D	0.36645	0.90942	D	.	.	.	0.730627	0.40183	T	0.7776895	0.82512	0.58422995	0.75892	0.7776895	0.82513	0.58422995	0.75893	-16.715	0.98873	D	.	.	0.929	0.89154	P	.;.;.	.;.;.	4.043198	0.59869	24.2	0.99643807273593654	0.76819	0.94592	0.61669	D	AEFB	0.735891	0.68157	D	.	.	.	.	.	.	0.999989529285559	0.51787	0.700653	0.57754	0	0.672317	0.65289	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	3.92	3.01	0.33872	1.701000	0.37444	0.544000	0.19360	0.535000	0.24933	0.997000	0.40164	0.997000	0.33255	0.318000	0.24924	0.0:0.8921:0.0:0.1079	9.300	0.37003	994	0.00715	Peptidase M12B, propeptide;.;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	977.98	36	chr10	133274164	.	C	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=0.260;SOR=0.598	GT:AD:DP:GQ:PL	0/1:19,40:59:99:992,0,417	20	0	1	0
chr11	1016851	1016851	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5950G:p.M1984V,	.	.	281	1238	3	0	0	3	0.00121017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.0	B	.	.	1.000	N	1.355	L	2.28	T	-0.928	T	0.026	T	0.054	-0.488	1.757	-1.23	-0.732	-3.137	7.098	0.004	.	.	.	0.0231	0.0297	0.0231	0.0209	0.0368	0.0240	0.0232	0.0114	0.0181822	2811	154602	rs754979325	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.762	0.03461	T	0.88	0.03223	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	0.36	0.03700	N	0.012	0.00125	-0.9277	0.44473	T	0.026	0.11309	T	9	0.0032328367	0.00055	T	.	.	.	0.004	0.00165	.	.	.	.	0.1335921856320022	0.13283	0.0978313491175	0.11032	0.184167280793	0.00138	T	0.017404	0.14204	T	-0.412732	0.01907	T	-0.830637	0.01251	T	0.021098348690303	0.00812	T	.	.	.	0.041747283	0.06205	0.057118785	0.10328	0.041747283	0.06205	0.057118785	0.10327	-0.452	0.00555	T	.	.	0.062	0.01252	B	.	.	-1.494209	0.00298	0.005	0.50998894571202691	0.04484	0.01029	0.03860	N	AEFDGBCI	0.021822	0.01018	N	-1.89200825186315	0.00357	0.01531653	-1.95342143093919	0.00382	0.01690211	0.999992092565461	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.75	-1.23	0.08977	-3.153000	0.00641	-2.564000	0.03604	-2.546000	0.00249	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1589:0.2688:0.5723	7.098	0.24500	830	0.39242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	99.98	942	chr11	1016851	.	T	C	99.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.75;DP=20247;ExcessHet=0.0000;FS=2.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.56;MQRankSum=-1.545e+01;QD=0.08;ReadPosRankSum=-1.167e+00;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1124,84:1208:99:0|1:1016849_C_G:114,0,46743:1016849	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:533,101,141:775:99:4217,1603,23780,0,17570,21270	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:364,0,0,84:448:99:0|1:1017464_T_*:6378,5664,20658,3569,18848,18557,0,15282,15046,14748:1017464	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:359,0,0,81:440:99:0|1:1017464_T_*:6184,5504,20299,3469,18539,18260,0,15072,14841,14554:1017464	0	0	13	0
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:362,0,81:443:99:0|1:1017464_T_*:6175,3469,18386,0,14967,14680:1017464	0	0	15	1
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:355,0,81:436:99:0|1:1017464_T_*:6112,3467,18096,0,14678,14392:1017464	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:351,0,81:432:99:0|1:1017464_T_*:6124,3467,17928,0,14510,14224:1017464	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:347,0,81:428:99:0|1:1017464_T_*:6136,3467,17760,0,14343,14056:1017464	3	0	12	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:355,0,2,81:438:99:0|1:1017464_T_*:6112,5458,20092,3383,18286,18006,0,14904,14594,14392:1017464	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:368,6,81:455:99:0|1:1017464_T_*:6073,3215,18372,0,14972,14938:1017464	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:372,17,81:470:99:0|1:1017464_T_*:6060,2759,18135,0,14684,15105:1017464	0	0	15	2
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1031,0,155:1272:99:.:.:2943,6577,51414,0,42692,43346	11	0	1	5
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1031,0,155:1272:99:.:.:2943,6577,51414,0,42692,43346	5	0	7	5
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	442.71	703	chr11	1017545	.	G	T,*	442.71	.	AC=1,2;AF=0.045,0.091;AN=22;BaseQRankSum=4.31;DP=13837;ExcessHet=0.3300;FS=1.683;InbreedingCoeff=-0.2353;MLEAC=2,3;MLEAF=0.091,0.136;MQ=56.32;MQRankSum=-7.749e+00;QD=0.16;ReadPosRankSum=-5.316e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1031,0,155:1272:99:.:.:2943,6577,51414,0,42692,43346	8	0	1	10
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:407,89,176:672:99:.:.:2550,1669,20052,0,12150,17499	7	0	8	4
chr11	1017575	1017575	C	0	exonic	MUC6	.	.	.	.	.	428	962	29	0	103	132	0.014849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	372.01	446	chr11	1017575	.	C	*,T	372.01	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=2.35;DP=12344;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.2537;MLEAC=2,2;MLEAF=0.125,0.125;MQ=58.31;MQRankSum=-1.383e+01;QD=0.29;ReadPosRankSum=-1.882e+00;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:472,176,110:758:99:0|1:1017464_T_*:6647,368,19424,0,15402,22591:1017464	6	0	1	13
chr11	1017581	1017581	A	0	exonic	MUC6	.	.	.	.	.	0	166	5	0	55	60	0.0148368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	666.01	446	chr11	1017581	.	A	*,G	666.01	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=2.29;DP=12220;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.2537;MLEAC=2,2;MLEAF=0.125,0.125;MQ=58.28;MQRankSum=-1.370e+01;QD=0.51;ReadPosRankSum=-1.325e+00;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:484,176,117:777:99:0|1:1017464_T_*:6905,662,20329,0,15992,23074:1017464	6	0	1	13
chr11	1017591	1017591	C	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5210T:p.R1737L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.035	B	0.001	B	.	.	1.000	N	0	N	2.2	T	-1.045	T	0.018	T	0.084	-0.967	0.312	-4.14	-5.372	-4.823	0.877	0.010	0.000727863096015	.	.	0.0004	0.0004	0.0001	0.0011	0.0005	0.0003	0	0.0003	0.0002199	34	154602	rs200995870	8.411e-06	5.548e-05	4.686e-06	1.233e-05	8.94e-06	3.5e-06	2.25e-06	3.21e-06	2.11e-06	0	0	0	0	6.741e-05	0	8.94e-06	0	0	7.541e-05	0.0011	0	0.0002	0.0005	0	0	.	.	0	0	0	0	0	0	0	0.0005	0	0	0.202	0.20230	T	0.32	0.19131	T	0.035	0.20614	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-0.22	0.10480	N	0.065	0.03726	-1.0448	0.15884	T	0.018	0.07659	T	9	0.020752281	0.00484	T	7.28E-4	0.00491	T	0.010	0.01040	.	.	0.112648838833	0.10856	0.17602560398862038	0.17521	0.111390099725	0.12571	0.169283777475	0.00029	T	0.011406	0.10182	T	-0.294597	0.09179	T	-0.660945	0.08202	T	0.113980498499628	0.13831	T	.	.	.	0.0422211	0.06364	0.06979889	0.14751	0.0422211	0.06364	0.06979889	0.14750	-0.27	0.00460	T	.	.	0.075	0.05535	B	.	.	-1.754908	0.00173	0.003	0.41629400901237562	0.03016	0.00941	0.03634	N	AEFDGBCI	0.035454	0.04568	N	-2.95329237501742	0.00001	6.111978e-05	-3.02875641013716	0.00001	6.208062e-05	0.999999999994688	0.74766	0.03846	0.00245	3	0.003223	0.00025	3	0.0	0.00061	3	0.387032	0.06801	2	.	.	2.07	-4.14	0.03628	-2.999000	0.00717	-9.669000	0.00791	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3471:0.0999:0.2744:0.2786	0.877	0.01149	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1102.31	446	chr11	1017591	.	C	A	1102.31	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.356;DP=11994;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.2353;MLEAC=2;MLEAF=0.143;MQ=57.40;MQRankSum=-1.505e+01;QD=1.79;ReadPosRankSum=-1.000e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:490,127:793:99:0|1:1017464_T_*:7306,0,23296:1017464	6	0	1	14
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:502,102,176:780:99:.:.:2136,1011,22219,0,15458,22545	7	0	9	3
chr11	1017618	1017618	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:487,191,151:829:99:0|1:1017464_T_*:8137,1506,21295,0,15570,23163:1017464	7	0	4	9
chr11	1017618	1017618	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5183C:p.V1728A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.05	B	0.056	B	.	.	1.000	N	-0.895	N	2.26	T	-1.011	T	0.011	T	0.079	-3.136	0.001	-1.99	-5.487	-0.903	1.423	0.009	0.000784335526871	.	.	0.0002	0.0002	9.974e-05	0.0008	0.0002	0.0002	0	0.0001	0.0001423	22	154602	rs771325542	1.709e-06	4.822e-05	3.385e-06	0	0.0001	0	0	.	.	0	0.0001	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.606	0.07791	T	0.05	0.22331	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.26	0.17596	T	0.09	0.05917	N	0.027	0.00571	-1.0109	0.26635	T	0.011	0.04134	T	9	0.010313988	0.00230	T	7.84E-4	0.00588	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.15508797170922747	0.15429	0.107656789803	0.12148	0.185074135661	0.00150	T	0.010255	0.09278	T	-0.295601	0.09080	T	-0.662387	0.08105	T	0.100785257858674	0.12443	T	.	.	.	0.017920928	0.00315	0.04538112	0.06095	0.017920928	0.00315	0.04538112	0.06094	-3.12	0.11527	T	.	.	0.072	0.04396	B	.	.	-1.046194	0.00708	0.021	0.27223928687474153	0.01341	0.00232	0.01297	N	AEFDGBCI	0.016358	0.00363	N	-2.72768374869058	0.00004	0.0002017786	-2.7868546645432	0.00005	0.0002182202	0.999999999999978	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-6.899000	0.00063	-6.778000	0.01309	-2.766000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2741:0.39:0.1507:0.1853	1.423	0.02177	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:487,191,151:829:99:0|1:1017464_T_*:8137,1506,21295,0,15570,23163:1017464	7	0	4	9
chr11	1017619	1017619	C	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:484,191,155:830:99:0|1:1017619_C_*:8592,1967,21840,0,15357,19341:1017619	15	0	4	1
chr11	1017619	1017619	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5182C:p.V1728L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.136	B	0.085	B	.	.	1.000	N	0	N	2.25	T	-0.970	T	0.017	T	0.071	-1.798	0.009	-1.99	-1.752	-5.547	3.869	0.004	0.000880914591661	.	.	0.0002	0.0002	8.892e-05	0.0007	0.0002	0.0002	0	0.0002	0.0001488	23	154602	rs776923183	1.601e-06	2.244e-05	3.143e-06	0	3.571e-05	2.7e-07	1e-07	.	.	3.571e-05	0	0	0	0	0	0	0	1.57e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.106	0.29688	T	0.691	0.05901	T	0.136	0.27347	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.25	0.17761	T	-0.41	0.14000	N	0.072	0.04547	-0.9699	0.37220	T	0.017	0.07140	T	9	0.021094084	0.00498	T	8.81E-4	0.00800	T	0.004	0.00165	0.228	0.15406	0.110078149338	0.10416	0.16479799696447842	0.16399	0.087332336583	0.09842	0.185904532671	0.00161	T	0.025306	0.18949	T	-0.284345	0.10212	T	-0.646218	0.09221	T	0.115778049627493	0.14013	T	.	.	.	0.0501816	0.09025	0.06939536	0.14615	0.0501816	0.09025	0.06939536	0.14614	-0.985	0.00983	T	.	.	0.113	0.22208	B	.	.	-0.830553	0.01048	0.045	0.33187604895552741	0.01963	0.01051	0.03915	N	AEFDGBCI	0.030689	0.03138	N	-1.66755186315791	0.00963	0.04174298	-1.77929018143564	0.00828	0.03696766	0.99999848616586	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-3.035000	0.00699	-2.364000	0.03847	-1.720000	0.00730	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1769:0.4115:0.4116	3.869	0.08535	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:484,191,155:830:99:0|1:1017619_C_*:8592,1967,21840,0,15357,19341:1017619	15	0	4	1
chr11	1017620	1017620	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1963.06	470	chr11	1017620	.	T	*,C	1963.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-3.394e+00;DP=13014;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.571e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:484,191,155:830:99:0|1:1017619_C_*:8592,1967,21840,0,15357,19341:1017619	7	0	4	9
chr11	1017634	1017636	TTC	-	exonic	MUC6	.	nonframeshift deletion	MUC6:NM_005961:exon31:c.5165_5167del:p.G1722_T1723delinsA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.812e-05	0	0	0.0002	0	4.508e-05	0	0.0001	4.53e-05	7	154602	rs748270489	7.38e-07	0.0003	1.461e-06	0	9.503e-07	0	0	.	.	0	0	0	0	0	0	9.503e-07	0	0	0	5.929e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5615.29	470	chr11	1017633	.	GTTC	G	5615.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.543e+00;DP=13298;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.77;MQRankSum=-1.552e+01;QD=6.98;ReadPosRankSum=-3.463e+00;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:615,190:888:99:0|1:1017464_T_*:5629,0,28957:1017464	19	0	1	1
chr11	1017641	1017644	ACTG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5157_5160del:p.S1720Qfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.912e-07	0.0003	1.561e-06	0	1.01e-06	0	0	.	.	0	0	0	0	0	0	1.01e-06	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	5573.39	470	chr11	1017640	.	TACTG	T	5573.39	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-3.358e+00;DP=13630;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1054;MLEAC=1;MLEAF=0.033;MQ=56.80;MQRankSum=-1.573e+01;QD=6.80;ReadPosRankSum=-2.862e+00;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:630,190:903:99:0|1:1017464_T_*:5585,0,29586:1017464	14	0	1	6
chr11	1017650	1017651	GT	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5150_5151del:p.N1717Tfs*24,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291169760	0	8.432e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.396e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5574.94	470	chr11	1017649	.	GGT	G	5574.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.209e+00;DP=13676;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.79;MQRankSum=-1.579e+01;QD=6.80;ReadPosRankSum=-2.665e+00;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:630,190:903:99:0|1:1017464_T_*:5589,0,29581:1017464	20	0	1	0
chr11	1017655	1017688	GGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTC	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5113_5146del:p.E1705Pfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.172e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.074e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	7837.94	470	chr11	1017654	.	GGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTC	G	7837.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.693e+00;DP=14142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.11;MQRankSum=-1.764e+01;QD=8.36;ReadPosRankSum=-2.643e+00;SOR=0.700	GT:AD:DP:GQ:PL	0/1:748,190:1023:99:7852,0,34167	20	0	1	0
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:503,105,273:881:99:.:.:6192,5025,24365,0,14593,22276	9	0	11	0
chr11	1017690	1017690	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5111G:p.A1704G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.024	B	0.002	B	.	.	1.000	N	0	N	2.18	T	-0.958	T	0.019	T	0.074	-0.240	2.842	0.043	0.019	0.226	3.413	0.006	0.000736161415103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.371e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.632	0.05121	T	0.241	0.24334	T	0.024	0.19075	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.18	0.18875	T	-0.25	0.11008	N	0.045	0.01740	-0.9582	0.39516	T	0.019	0.08079	T	9	0.042532265	0.03012	T	7.36E-4	0.00491	T	0.006	0.00375	0.193	0.10437	0.137902524267	0.13322	0.10606636652605247	0.10536	0.089128932998	0.10071	0.186072796583	0.00163	T	0.01716	0.14051	T	-0.281296	0.10530	T	-0.641839	0.09536	T	0.0534891185251689	0.06103	T	.	.	.	0.03445902	0.03870	0.048940398	0.07375	0.03445902	0.03870	0.048940398	0.07375	-5.947	0.45833	T	.	.	0.093	0.13830	B	.	.	-0.191785	0.03133	0.503	0.72716869389386618	0.10070	0.05035	0.10820	N	AEFDGBCI	0.029483	0.02791	N	-1.30082013981284	0.03666	0.1641882	-1.34839254636191	0.03825	0.1792046	0.999986139793592	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.58	0.043	0.13537	-1.180000	0.03197	-0.070000	0.12310	-0.416000	0.05245	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	3.413	0.06939	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5601.98	888	chr11	1017690	.	G	C	5601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.326e+00;DP=16628;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.92;MQRankSum=-1.631e+01;QD=7.09;ReadPosRankSum=-2.668e+00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:602,188:873:99:0|1:1017464_T_*:5616,0,28266:1017464	20	0	1	0
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:478,119,188:868:99:.:.:6889,2045,22098,0,15738,30448	2	0	4	14
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,36,0:196:99:0|1:1018175_A_G:1030,0,6610,1512,6718,8230:1018175	5	0	15	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,28,0:238:99:0|1:1018256_T_G:544,0,8734,1176,8818,9994:1018256	6	0	10	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,178,0:182:99:1|1:1095948_C_G:6883,460,0,6895,532,6967:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,177,0,0:177:99:1|1:1095948_C_G:6783,530,0,6783,530,6783,6783,530,6783,6783:1095948	0	19	0	0
chr11	1096649	1096825	ACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0005	0.0005	0.0065	0.0005	0.0004	0.0057	0.0053	0.0007	0.0005	0.0010	0.0065	0.0003	0.0003	0.0003	0.0006	0.0002	0.0003	0.0002	0.0001	0.0005	0.0007	0.0001	8.573e-05	4.334e-05	1.805e-05	0.0003	0	0.0007	0	0	0.0014	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	77.31	106	chr11	1096648	.	TACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	T	77.31	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.19;DP=2331;ExcessHet=0.0000;FS=16.010;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.025;MQ=53.10;MQRankSum=10.35;QD=0.47;ReadPosRankSum=-8.199e+00;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,92:165:91:0|1:1096648_TACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC_T:91,0,2850:1096648	19	0	1	1
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,92:165:91:0|1:1096648_TACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC_T:91,311,3297,0,2987,2850:1096648	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,47,85:132:99:1|0:1096648_TACGGTGACCCCAACCTCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCGACACCCATCTCCACCACCACTACAGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC_T:3312,447,155,1539,0,1790:1096648	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:1,20,0:21:33:631,33,0,634,60,661	4	8	2	6
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:243,47:290:99:.:.:471,0,5336	14	0	6	1
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,17,0:140:99:0|1:1098716_A_G:344,0,5093,714,5144,5858:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,12,0:136:99:0|1:1098716_A_G:131,0,5171,504,5207,5711:1098716	8	0	8	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,15,0:132:99:0|1:1098716_A_G:148,0,4581,500,4626,5126:1098716	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:117,0,15:132:99:0|1:1098716_A_G:148,500,5126,0,4626,4581:1098716	6	0	3	3
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,175,0:175:99:.:.:5186,521,0,5526,541,6515	0	15	0	0
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,128,0:469:99:0|1:1099661_A_C:4178,0,13676,5203,14061,19264:1099661	8	0	4	7
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G,	.	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.006	B	0.004	B	.	.	1.000	N	2.015	M	2.45	T	-0.984	T	0.040	T	0.06	0.243	5.315	-1.97	-0.202	0.106	5.827	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	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	0.04762	4885.11	84	chr11	1243062	.	C	G	4885.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.863;DP=2602;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.59;MQRankSum=-1.111e+00;QD=12.31;ReadPosRankSum=0.594;SOR=0.789	GT:AD:DP:GQ:PL	0/1:114,98:212:99:2603,0,2980	19	0	2	0
chr11	1248903	1248903	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12023T:p.T4008M,	.	.	632	886	3	1	0	5	0.00281373	.	.	2438393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.458	P	0.017	B	.	.	1.000	N	1.31	L	2.26	T	-1.052	T	0.031	T	0.069	-0.371	2.252	-1.12	-0.428	-4.610	5.067	0.017	0.00321089615043	.	.	0.0007	0.0027	0.0027	0	0	0.0007	0	0.0002	6.5e-06	1	154602	rs767648185	0.0005	0.0005	0.0005	0.0005	0.0015	0.0005	0.0005	0.0007	0.0007	6.27e-05	0.0010	0	0	5.982e-05	0.0015	0.0006	0.0004	0.0002	0.0004	0.0005	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0.0088	0.0014	0	0	0	0	0.0004	0.0015	0	0.054	0.38633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.08	0.20255	T	-0.93	0.24898	N	0.042	0.01498	-1.0524	0.13736	T	0.031	0.13461	T	9	0.010128796	0.00227	T	0.003211	0.07057	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.38704277308092166	0.38619	.	.	0.217673510313	0.01180	T	0.032386	0.22461	T	-0.663544	0.00060	T	-0.732388	0.04221	T	0.000755852060251669	0.00007	T	0.323368	0.06588	T	0.0146855945	0.00103	0.03652635	0.03116	0.0146855945	0.00103	0.03652635	0.03116	-8.746	0.66047	D	.	.	0.126	0.26576	B	.	.	0.898715	0.12724	9.246	0.74712460906929012	0.10798	0.00223	0.01258	N	AEFI	0.032051	0.03545	N	-1.37164144024145	0.02907	0.1290686	-1.51768257756784	0.02208	0.1012032	9.35793791966632E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-1.12	0.09306	0.464000	0.21700	-6.072000	0.01505	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4421:0.3355:0.2224	5.067	0.13923	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1346.11	41	chr11	1248903	.	C	T	1346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.41;DP=981;ExcessHet=0.1072;FS=11.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=31.14;MQRankSum=-5.750e-01;QD=14.02;ReadPosRankSum=0.677;SOR=1.753	GT:AD:DP:GQ:PL	0/1:28,33:61:99:919,0,745	19	0	2	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,25,0:88:99:0|1:1249152_C_G:439,0,2255,628,2329,2957:1249152	16	0	3	0
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,9,0:9:43:428,43,0,428,43,428	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,9,0:9:43:428,43,0,428,43,428	15	3	0	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,177,0:177:99:.:.:7291,542,0,7291,542,7291	3	3	5	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C,	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.027	B	0.224	U	1.000	N	3	M	4.04	T	-1.083	T	0.021	T	0.324	0.184	4.989	3.29	0.312	0.406	6.761	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	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	0.02381	2325.98	35	chr11	4821609	.	A	G	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.89;DP=881;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.640e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/1:105,82:187:99:2340,0,2783	20	0	1	0
chr11	4860278	4860278	A	G	exonic	OR51H1	.	nonsynonymous SNV	OR51H1:NM_001348291:exon2:c.T287C:p.F96S,	.	.	424	1082	15	1	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	0.996	N	.	.	3.32	T	-1.098	T	0.027	T	0.825	1.520	11.03	3.86	2.110	1.942	9.978	0.222	.	.	0.00159744	0.0044	0.0010	0.0070	0	0.0080	0.0039	0.0144	0.0043	0.0011837	183	154602	rs186873226	0.0045	0.0023	0.0043	0.0045	0.0047	0.0043	0.0042	0.0044	0.0043	0.0013	0.0029	0.0024	0	0.0076	0.0032	0.0047	0.0053	0.0044	0.0033	0.0033	0.0033	0.0034	0.0046	0.0031	0.0030	0.0042	0.0040	0.0007	0	0.0035	0.0023	0.0002	0.0070	0	0.0046	0.0057	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2177.98	39	chr11	4860278	.	A	G	2177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.079;DP=984;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=1.07;SOR=0.858	GT:AD:DP:GQ:PL	0/1:81,77:158:99:2192,0,2156	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:132,49:181:99:167,0,3246	5	0	11	5
chr11	5509473	5509473	G	A	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.C86T:p.P29L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.093	B	0.000	D	1.000	D	2.47	M	-0.43	T	-0.478	T	0.337	T	0.493	2.445	14.14	5.49	2.749	3.311	15.227	0.327	0.0315030335319	7.7e-05	.	9.885e-05	0	0	0	0	4.496e-05	0.0011	0.0005	8.41e-05	13	154602	rs375258780	4.446e-05	4.446e-05	2.859e-05	6.05e-05	0.0005	3.575e-05	3.257e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.698e-05	4.967e-05	0.0003	4.599e-05	4.596e-05	2.569e-05	6.724e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.012	0.56456	D	0.002	0.83351	D	0.001	0.07471	B	0.093	0.30104	B	0.000190	0.48115	D	0.000000	1	0.81001	D	2.29	0.65257	M	-0.43	0.69657	T	-7.83	0.97547	D	0.298	0.33687	-0.4784	0.69426	T	0.337	0.70330	T	10	0.34389293	0.51393	T	0.031503	0.53573	D	0.327	0.64926	.	.	0.879018207682	0.87783	0.2868595301879391	0.28598	0.0456341534263	0.04953	0.703867614269	0.67704	T	0.035773	0.23847	T	-0.2142	0.18791	T	-0.223494	0.52398	T	0.418175458908081	0.29623	T	0.882812	0.60417	D	0.6342462	0.74525	0.5789099	0.75597	0.6342462	0.74526	0.5789099	0.75598	-6.149	0.47509	T	.	.	0.224	0.63792	B	.;.	.;.	4.030661	0.59597	24.1	0.98981043959082082	0.49740	0.77375	0.38036	D	AEFBI	0.382971	0.46465	N	0.168458016910446	0.49689	3.166461	0.298935543740328	0.55478	3.710744	0.99999996858032	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	2.295000	0.43236	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	15.227	0.73050	668	0.61153	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain;Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1909.98	39	chr11	5509473	.	G	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=988;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-3.204e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1924,0,2488	20	0	1	0
chr11	6002895	6002895	G	A	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.C98T:p.P33L,	.	.	414	1106	2	0	0	2	0.000903342	.	.	2210431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.024	B	0.027	B	0.616	U	1.000	D	0.76	N	7.63	T	-0.359	T	0.001	T	0.522	2.349	13.81	3.47	1.930	2.200	14.004	0.200	0.00809201458027	7.7e-05	.	9.903e-05	0	0	0	0	0.0002	0	6.089e-05	7.76e-05	12	154602	rs374846573	7.525e-05	7.524e-05	7.079e-05	7.976e-05	0.0007	6.382e-05	5.938e-05	0.0002	0.0001	0	0	0	0	5.616e-05	0.0007	8.094e-05	9.936e-05	8.117e-05	3.941e-05	3.937e-05	2.571e-05	5.373e-05	4.412e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0102	4.412e-05	0	0	0.022	0.48642	D	0.023	0.57104	D	0.024	0.19075	B	0.027	0.21085	B	0.616197	0.10820	U	0.699641	0.99977	0.48980	D	0.455	0.12820	N	7.63	0.00351	T	-7.53	0.95131	D	0.44	0.47857	-0.3594	0.73281	T	0.001	0.00318	T	10	0.27501512	0.45058	T	0.008092	0.21444	T	0.200	0.48430	.	.	0.282575091529	0.27877	0.3700316620870174	0.36917	0.195923742146	0.21951	0.341872245073	0.16718	T	0.203921	0.56254	T	-0.310165	0.07734	T	-0.457605	0.26860	T	0.356231008115214	0.27262	T	0.845715	0.52486	T	0.15846045	0.35649	0.21475974	0.46038	0.15846045	0.35649	0.21475974	0.46037	-7.367	0.56671	T	.	.	0.220	0.49137	B	.;.;.;.	.;.;.;.	3.392194	0.46967	22.4	0.98967553088588822	0.49461	0.82116	0.41394	D	AEFDGI	0.171357	0.29832	N	-0.266894031091753	0.30435	1.696977	-0.147904795887024	0.33489	1.916177	0.508682662277133	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.47	3.47	0.38831	1.502000	0.35312	.	.	0.676000	0.76740	0.018000	0.19461	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	14.004	0.63969	808	0.43318	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1682.98	41	chr11	6002895	.	G	A	1682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=883;ExcessHet=0.0000;FS=0.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-7.900e-02;QD=12.95;ReadPosRankSum=1.39;SOR=0.591	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1697,0,1787	20	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,84,0,0,0,0:84:99:.:.:2529,252,0,2529,252,2529,2529,252,2529,2529,2529,252,2529,2529,2529,2529,252,2529,2529,2529,2529	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,84,0,0,0,0:84:99:.:.:2529,252,0,2529,252,2529,2529,252,2529,2529,2529,252,2529,2529,2529,2529,252,2529,2529,2529,2529	0	5	0	0
chr11	6392185	6392185	G	T	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_001318088:exon2:c.G159T:p.K53N	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.612	P	0.196	B	.	.	1.000	N	.	.	-2.28	D	-1.026	T	0.062	T	0.22	3.035	16.13	1.84	0.495	0.539	5.173	0.019	0.0236454272139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	625.98	33	chr11	6392185	.	G	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.355e+00;DP=776;ExcessHet=0.0000;FS=4.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.96;SOR=0.278	GT:AD:DP:GQ:PL	0/1:33,27:60:99:640,0,914	20	0	1	0
chr11	7987585	7987585	C	T	exonic	EIF3F	.	nonsynonymous SNV	EIF3F:NM_003754:exon1:c.C233T:p.P78L,	.	.	383	1136	3	0	0	3	0.00131868	.	.	2743652	EIF3F-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.002	B	0.007	B	0.874	N	1.000	D	0.625	N	1.54	T	-1.030	T	0.083	T	0.202	3.270	16.98	2.97	1.994	0.812	12.230	0.083	0.0208829789782	0.0009	0.000199681	0.0014	0	0.0009	0	0	0.0021	0.0015	0.0013	0.0001876	29	154602	rs200229110	0.0013	0.0013	0.0012	0.0013	0.0040	0.0012	0.0012	0.0026	0.0021	0.0003	0.0007	0.0081	0	0.0002	0.0040	0.0013	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0012	0.0011	0.0002	0	0.0017	0.0086	0	0	0	0.0014	0.0014	0.0002	0.005	0.63226	D	0.034	0.52727	D	0.002	0.09854	B	0.007	0.12992	B	0.874246	0.08802	N	0.943443	0.999998	0.58761	D	0.895	0.22405	L	0.98	0.42122	T	-0.62	0.18248	N	0.142	0.19995	-1.0299	0.20487	T	0.083	0.32700	T	10	0.0059174597	0.00133	T	0.020883	0.43558	T	0.083	0.24192	.	.	0.128874641272	0.12493	0.19762602238569787	0.19679	0.284819605958	0.30900	0.742073535919	0.73278	T	0.008647	0.07927	T	-0.51202	0.00489	T	-0.532885	0.19000	T	0.056818025186601	0.06659	T	.	.	.	0.08013977	0.18347	0.05640729	0.10074	0.08013977	0.18346	0.05640729	0.10073	-4.915	0.35903	T	.	.	0.111	0.34339	B	.;.;.	.;.;.	2.258865	0.28859	17.94	0.99321029265576699	0.59393	0.04962	0.10727	N	AEFGBCI	0.108788	0.21631	N	-0.703135107759395	0.15932	0.8074151	-0.703501639434969	0.16874	0.8946542	0.999999991954739	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.97	2.97	0.33479	0.320000	0.19288	2.430000	0.32726	0.599000	0.40250	0.000000	0.06391	0.928000	0.28476	0.094000	0.17991	0.0:1.0:0.0:0.0	12.230	0.53793	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	36	chr11	7987585	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=900;ExcessHet=0.0000;FS=3.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.05;MQRankSum=-8.420e-01;QD=10.85;ReadPosRankSum=1.29;SOR=1.069	GT:AD:DP:GQ:PL	0/1:66,44:110:99:1208,0,1857	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:91,0,36:127:72:.:.:72,328,2140,0,1812,1719	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	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	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:91,0,36:127:72:.:.:72,328,2140,0,1812,1719	8	0	1	6
chr11	10581936	10581936	G	A	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon17:c.C1346T:p.T449I	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.458	P	0.137	B	0.349	N	0.987	N	1.5	L	2.4	T	-1.052	T	0.037	T	0.117	0.007	4.050	4.32	1.315	4.097	9.332	0.054	0.0053146433913	0.0011	0.00139776	0.0015	0.0006	0.0025	0	0	0.0021	0.0033	0.0003	0.0015782	244	154602	rs147475878	0.0020	0.0020	0.0019	0.0020	0.0024	0.0019	0.0019	0.0023	0.0022	0.0002	0.0024	0.0004	0	0	0.0010	0.0024	0.0016	0.0002	0.0015	0.0015	0.0017	0.0014	0.0041	0.0014	0.0013	0.0033	0.0030	0.0006	0	0.0041	0.0009	0	0	0.0034	0.0020	0.0038	0	0.306	0.20988	T	0.18	0.30926	T	.	.	.	.	.	.	0.348621	0.13851	N	0.670270	1	0.08975	N	.	.	.	2.4	0.15608	T	-0.9	0.24676	N	0.289	0.36989	-1.0523	0.13763	T	0.037	0.15986	T	10	0.0056712627	0.00126	T	0.005315	0.13587	T	0.054	0.15330	.	.	0.231873229951	0.22792	0.10104478635107605	0.10035	0.110646270925	0.12494	0.314245045185	0.12549	T	0.117015	0.43679	T	-0.618644	0.00112	T	-0.659081	0.08329	T	0.0149690878093355	0.00320	T	0.871013	0.57621	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30022	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.846748	0.23464	16.03	0.74862140681896128	0.10855	0.67706	0.33530	D	ALL	0.432051	0.49409	N	-0.294338587630735	0.29367	1.627871	-0.276836334030587	0.28862	1.613	0.999999999521604	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.466023	0.07079	0	.	.	5.24	4.32	0.50899	3.983000	0.56625	6.652000	0.56219	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.048000	0.15020	0.1682:0.0:0.8318:0.0	9.332	0.37187	423	0.81269	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1015.98	35	chr11	10581936	.	G	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.547;SOR=0.783	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1030,0,719	20	0	1	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,31,0,0,0,0:64:99:.:.:1179,1283,2666,0,1383,1290,1283,2666,1383,2666,1283,2666,1383,2666,2666,1283,2666,1383,2666,2666,2666,1283,2666,1383,2666,2666,2666,2666	6	0	4	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:11,0,7,21:43:99:359,403,618,238,489,591,0,214,132,136	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:11,0,7,21:43:99:359,403,618,238,489,591,0,214,132,136	0	0	0	0
chr11	33645988	33645988	G	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon17:c.G5712C:p.W1904C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	0.805	L	.	.	-0.516	T	0.261	T	0.856	3.575	18.22	4.51	1.422	5.983	14.672	0.887	0.0101809855604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220123982	6.18e-06	6.156e-06	5.462e-06	6.907e-06	6.309e-06	2.91e-06	2.11e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.309e-06	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	0.895	0.22405	L	.	.	.	-9.99	0.98804	D	0.847	0.84298	-0.5163	0.68054	T	0.261	0.63165	T	9	0.93288076	0.92623	D	0.010181	0.26412	T	0.887	0.96725	.	.	0.224531998449	0.22054	0.4190536390881229	0.41821	0.88970380947	0.70172	0.833856463432	0.87153	D	0.385652	0.74699	T	0.336528	0.85603	D	0.265894	0.86368	D	0.995687305927277	0.87878	D	0.936906	0.76326	D	0.817433	0.85047	0.7974617	0.88110	0.817433	0.85049	0.7974617	0.88111	-8.592	0.65036	D	.	.	0.983	0.91793	P	.	.	5.297390	0.88941	29.8	0.99037131584866744	0.50939	0.96540	0.69650	D	AEFDBI	0.789329	0.71855	D	0.506057422750013	0.67447	5.082916	0.519580822246489	0.69307	5.341958	0.997699233454953	0.35915	0.706298	0.61202	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.42	4.51	0.54589	7.430000	0.79505	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0704:0.0:0.9296:0.0	14.672	0.68559	741	0.52966	.	.	.	.	.	.	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	0.02381	1836.98	73	chr11	33645988	.	G	C	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=1390;ExcessHet=0.0000;FS=4.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.14;ReadPosRankSum=-4.700e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/1:30,66:96:99:1851,0,656	20	0	1	0
chr11	34127461	34127461	A	G	splicing	NAT10	NM_024662:exon12:c.1108-2A>G;NM_001144030:exon10:c.892-2A>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.933	15.78	5.99	2.291	8.798	16.494	.	.	.	.	8.282e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs753599572	4.13e-06	4.788e-06	4.101e-06	4.159e-06	4.522e-06	1.49e-06	9.8e-07	1.33e-06	9.6e-07	0	0	0	0	0	0	4.522e-06	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230489	0.76768	D	0.0933047	0.76466	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.735615	0.95662	35	0.99378344460536372	0.61759	0.98653	0.85175	D	ALL	.	.	.	1.09754364802579	0.98088	17.40106	0.931850003782553	0.96816	15.18601	0.999999999975903	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.117559	0.03655	0	0.976456	0.79707	5.99	5.99	0.97299	8.789000	0.91475	11.156000	0.87498	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	16.494	0.84067	330	0.86467	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1585.98	37	chr11	34127461	.	A	G	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.020e-01;DP=808;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-1.399e+00;SOR=0.809	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1600,0,1292	20	0	1	0
chr11	34143506	34143506	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon26:c.G2731A:p.A911T	.	.	423	1067	28	4	0	36	0.0165899	.	.	712799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.327	B	0.048	B	0.000	D	1.000	D	1.935	M	1.52	T	-1.104	T	0.045	T	0.241	2.334	13.76	5.58	2.606	4.797	19.569	0.132	.	0.0063	0.00519169	0.0048	0.0117	0.0060	0.0001	0.0002	0.0051	0.0034	0.0029	0.0045472	703	154602	rs36006049	0.0043	0.0043	0.0043	0.0043	0.0239	0.0042	0.0042	0.0207	0.0194	0.0091	0.0054	0.0147	5.038e-05	0.0003	0.0239	0.0042	0.0052	0.0023	0.0059	0.0059	0.0061	0.0057	0.0095	0.0056	0.0054	0.0087	0.0084	0.0095	0	0.0065	0.0161	0	0.0003	0.0034	0.0046	0.0071	0.0031	0.216	0.20078	T	0.364	0.16766	T	0.327	0.33167	B	0.048	0.24975	B	0.000000	0.84330	D	0.048659	0.999998	0.81001	D	1.12	0.28775	L	1.52	0.30669	T	-0.39	0.15379	N	0.3	0.33904	-1.1044	0.03598	T	0.045	0.19397	T	10	0.0068188906	0.00155	T	.	.	.	0.132	0.35948	.	.	0.513901218509	0.51032	0.2319560683068648	0.23110	0.191392387725	0.21466	0.474747747183	0.35335	T	0.011453	0.10219	T	-0.500906	0.00565	T	-0.482898	0.24138	T	0.00889230030748373	0.00110	T	0.829117	0.49388	T	0.09764516	0.23020	0.17693919	0.40262	0.09764516	0.23020	0.17693919	0.40262	-3.804	0.20864	T	.	.	0.093	0.14247	B	.;.	.;.	2.437411	0.31368	18.72	0.99287338102174394	0.58149	0.96961	0.71893	D	AEFBI	0.549680	0.56246	D	0.124578956269109	0.47612	2.98441	0.233387795414629	0.51710	3.351164	0.999999420506852	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.913000	0.63039	6.503000	0.55788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	19.569	0.95398	340	0.86005	.;.	.	.	.	.	.	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	0.02381	737.98	33	chr11	34143506	.	G	A	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=760;ExcessHet=0.0000;FS=2.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-6.770e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:21,28:49:99:752,0,406	20	0	1	0
chr11	46542742	46542742	A	C	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.T1275G:p.S425R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.741	P	0.372	B	0.000	D	0.959	D	0.805	L	-0.46	T	-0.566	T	0.232	T	0.56	1.908	12.34	3.57	1.052	1.368	8.645	0.284	0.0563279908048	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752251418	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0002	9.85e-06	8.41e-06	0.0001	0.0001	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	6.594e-06	6.573e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.001	0.78490	D	0.005	0.74150	D	0.235	0.41009	B	0.193	0.39516	B	0.000000	0.84330	D	0.117135	0.95926	0.38118	D	1.975	0.53506	M	-0.67	0.75911	T	-1.85	0.43334	N	0.362	0.45615	-0.5661	0.66170	T	0.232	0.59830	T	10	0.12158084	0.23050	T	0.056328	0.66563	D	0.284	0.60219	0.198	0.11110	0.362142726121	0.35819	0.4613488375718328	0.46052	0.686972284618	0.60358	0.556155264378	0.46725	T	0.030817	0.51584	T	-0.137022	0.30365	T	-0.160299	0.58325	T	0.267261083917875	0.23630	T	0.943406	0.80130	D	0.38648418	0.59782	0.42713267	0.66468	0.38648418	0.59782	0.42713267	0.66468	-3.782	0.20536	T	.	.	0.770	0.78104	P	.;.;.;.;.	.;.;.;.;.	2.634672	0.34271	19.58	0.9908183872045444	0.51978	0.86903	0.46289	D	AEFDBCI	0.432765	0.49451	N	-0.0911008627357213	0.37783	2.203132	0.0321786054127352	0.41217	2.472658	0.775698186660096	0.23748	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	3.57	0.40014	1.387000	0.34037	4.748000	0.44643	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7836:0.0:0.2164:0.0	8.645	0.33164	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	0.02381	2838.98	33	chr11	46542742	.	A	C	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=892;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.039;SOR=0.935	GT:AD:DP:GQ:PL	0/1:80,100:180:99:2853,0,2021	20	0	1	0
chr11	46542959	46542959	T	G	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon7:c.A1058C:p.E353A	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.99	D	0.979	D	0.000	D	1.000	D	0.805	L	-0.37	T	-0.398	T	0.356	T	0.562	1.289	10.21	4.72	1.039	3.151	11.044	0.313	0.0844925917756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	6.84e-07	1.369e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.262	0.48594	T	0.974	0.57829	D	0.953	0.72001	D	0.000000	0.84330	D	0.000000	0.999683	0.48270	D	1.78	0.46185	L	-0.5	0.72785	T	-2.12	0.48184	N	0.611	0.68603	-0.3978	0.72096	T	0.356	0.71904	T	10	0.32828188	0.50099	T	0.084493	0.74337	D	0.313	0.63482	0.132	0.03662	0.314436011497	0.31061	0.48510847154655024	0.48430	0.646068441587	0.58034	0.561897516251	0.47535	T	0.030461	0.50316	T	0.0387262	0.56879	T	-0.182149	0.56325	T	0.400905233712448	0.28976	T	0.940006	0.78847	D	0.16751084	0.37151	0.12418578	0.29936	0.16751084	0.37151	0.12418578	0.29935	-2.589	0.06420	T	.	.	0.153	0.39932	B	.;.;.;.;.	.;.;.;.;.	3.028227	0.40554	21.2	0.98145960859189441	0.38647	0.89495	0.49996	D	AEFDBCI	0.384354	0.46551	N	0.147162986517352	0.48678	3.077125	0.161145705951574	0.47736	2.99935	0.990375080016216	0.32132	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.72	0.59248	3.150000	0.50359	7.933000	0.75122	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.0:0.0732:0.0:0.9268	11.044	0.47066	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	0.02381	1232.98	33	chr11	46542959	.	T	G	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=804;ExcessHet=0.0000;FS=2.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.585e+00;SOR=1.020	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1247,0,1278	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.016	B	0.01	B	.	.	1.000	N	0.245	N	4.05	T	-0.939	T	0.007	T	0.199	-0.498	1.715	3.37	2.363	-2.039	9.887	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	0.02381	2297.98	35	chr11	48264006	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=925;ExcessHet=0.0000;FS=4.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.02;SOR=1.036	GT:AD:DP:GQ:PL	0/1:94,87:181:99:2312,0,2295	20	0	1	0
chr11	55967707	55967707	G	A	exonic	OR10AG1	.	nonsynonymous SNV	OR10AG1:NM_001005491:exon1:c.C757T:p.P253S,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.959	D	0.856	P	0.001	N	1.000	N	1.9	L	8.4	T	-0.733	T	0.001	T	0.306	3.181	16.65	5.37	2.569	3.273	16.768	0.241	0.00515147239751	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs745854593	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0003	2.35e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	2.519e-05	0	0.0003	3.598e-06	0	1.159e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.072	0.34982	T	0.066	0.44501	T	0.959	0.55135	D	0.856	0.61001	P	0.001175	0.39978	N	0.114382	1	0.08975	N	1.89	0.50145	L	8.4	0.00240	T	-7.28	0.94430	D	0.349	0.39052	-0.7328	0.58822	T	0.001	0.00467	T	10	0.41736576	0.56632	T	0.005151	0.13094	T	0.241	0.54641	.	.	0.54285271628	0.53938	0.054567269616721537	0.05398	0.196285667944	0.21984	0.244591832161	0.03220	T	0.015683	0.13108	T	-0.331774	0.05978	T	-0.545219	0.17788	T	0.981577813625336	0.73989	D	0.660634	0.26999	T	0.3386107	0.56169	0.40913397	0.65211	0.3386107	0.56169	0.40913397	0.65211	-6.906	0.53343	T	.	.	0.125	0.29422	B	.;.	.;.	3.821174	0.55171	23.6	0.99842241000849385	0.92229	0.40838	0.26525	N	AEFI	0.082419	0.16688	N	0.422180208252588	0.62642	4.483662	0.363723869528391	0.59337	4.110849	0.00104052622135994	0.08148	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	1.004000	0.29423	2.821000	0.34963	0.495000	0.22486	0.001000	0.13787	0.369000	0.24559	0.961000	0.51904	0.0:0.0:1.0:0.0	16.768	0.85389	161	0.93754	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1651.98	37	chr11	55967707	.	G	A	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.180e-01;DP=1152;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.500;SOR=0.587	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1666,0,1305	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:189,0,55:244:99:0|1:56375918_A_G:1741,2309,10205,0,7896,7730:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:189,0,55:244:99:0|1:56375918_A_G:1741,2309,10205,0,7896,7730:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:189,0,55:244:99:0|1:56375918_A_G:1741,2309,10205,0,7896,7730:56375918	1	0	3	1
chr11	57476823	57476823	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon3:c.C1175T:p.A392V,	.	.	396	1108	17	1	0	19	0.00850112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.018	B	0.002	B	.	.	0.992	N	0.345	N	0.25	T	-1.043	T	0.071	T	0.156	0.405	6.198	1.8	0.362	0.168	8.397	0.014	.	0.0031	0.00479233	0.0086	0.0014	0.0142	0	0.0255	0.0072	0.02	0.0127	0.0002305	6	26028	rs141304388	0.0063	0.0064	0.0060	0.0065	0.0114	0.0061	0.0061	0.0107	0.0105	0.0007	0.0114	0.0026	0	0.0231	0.0058	0.0054	0.0071	0.0113	0.0066	0.0066	0.0054	0.0078	0.0104	0.0063	0.0061	0.0091	0.0086	0.0013	0.0329	0.0104	0.0037	0.0006	0.0274	0.0068	0.0058	0.0038	0.0097	0.011	0.55530	D	0.328	0.18675	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.25	0.59449	T	-1.28	0.32185	N	0.125	0.11769	-1.0431	0.16383	T	0.071	0.29034	T	9	0.0023450553	0.00035	T	.	.	.	0.014	0.01968	.	.	0.416446257289	0.41261	0.26049700544724286	0.25963	1.06338473455	0.76549	0.735802829266	0.72355	T	0.098477	0.40233	T	-0.495055	0.00609	T	-0.472858	0.25209	T	0.0094299413240383	0.00121	T	0.580242	0.20999	T	0.150981	0.34345	0.21442443	0.45992	0.150981	0.34345	0.21442443	0.45991	-4.629	0.32534	T	.	.	0.066	0.02065	B	.	.	1.751098	0.22276	15.55	0.97470050534828734	0.34131	0.01686	0.05377	N	ALL	0.040239	0.05956	N	-0.862290915450808	0.11748	0.5687231	-0.821535014336905	0.13974	0.7277858	0.999999998838283	0.74766	0.766844	0.99359	0	0.218748	0.04544	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	2.73	1.8	0.24069	0.032000	0.13620	0.301000	0.16978	0.446000	0.21189	0.000000	0.06391	0.917000	0.28245	0.911000	0.44643	0.0:0.8737:0.0:0.1263	8.397	0.31727	71	0.96981	.	.	.	.	.	.	Likely benign	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	0.02381	1486.98	42	chr11	57476823	.	C	T	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.65;ReadPosRankSum=1.14;SOR=0.775	GT:AD:DP:GQ:PL	0/1:37,58:95:99:1501,0,824	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,43:112:99:.:.:620,0,1103	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,38:118:99:.:.:388,0,2045	0	0	21	0
chr11	62910170	62910170	C	T	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.002	B	0.155	N	1.000	N	-0.69	N	0.26	T	-1.049	T	0.067	T	0.196	-0.620	1.245	3.87	1.229	2.645	10.708	0.039	0.00830803059818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.04987	T	0.558	0.09175	T	0.0	0.02946	B	0.002	0.06944	B	0.154817	0.17850	N	0.470592	1	0.08975	N	-0.22	0.03977	N	0.26	0.59583	T	0.13	0.05503	N	0.123	0.11483	-1.0486	0.14790	T	0.067	0.27674	T	10	0.05721578	0.06537	T	0.008308	0.22004	T	0.039	0.10176	0.295	0.25881	0.472611402724	0.46890	0.48849885891831335	0.48769	1.08132311467	0.77145	0.447905778885	0.31658	T	0.210693	0.57125	T	-0.178759	0.23919	T	-0.494551	0.22916	T	0.0854483917355537	0.10669	T	0.553645	0.19140	T	0.059083946	0.11966	0.078784086	0.17678	0.059083946	0.11966	0.078784086	0.17678	-4.593	0.32083	T	.	.	0.062	0.01692	B	.;.	.;.	1.998142	0.25390	16.74	0.80733071635917653	0.13343	0.58653	0.30700	D	AEFDGBI	0.206327	0.33260	N	-0.716879269514816	0.15548	0.7844788	-0.544263881376332	0.20958	1.131546	0.99999554017608	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.79	3.87	0.43823	2.859000	0.48063	.	.	0.599000	0.40250	0.739000	0.29016	0.703000	0.26245	0.943000	0.48514	0.0:0.9064:0.0:0.0936	10.708	0.45164	804	0.43891	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2562.98	35	chr11	62910170	.	C	T	2562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=1059;ExcessHet=0.0000;FS=4.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.630e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/1:115,108:223:99:2577,0,2820	20	0	1	0
chr11	64165918	64165918	G	A	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon1:c.C77T:p.P26L,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.895	P	0.354	B	0.050	N	0.953	D	1.1	L	1.79	T	-1.064	T	0.048	T	0.182	2.875	15.58	2.96	1.955	1.361	9.628	0.035	.	.	0.000998403	0.0039	0	0	0	.	0.0227	0	0	0.0005369	83	154602	rs528917108	0.0049	0.0043	0.0050	0.0048	0.0055	0.0048	0.0048	0.0054	0.0053	0.0006	0.0018	0.0087	0	0.0009	0.0018	0.0055	0.0044	0.0001	0.0042	0.0042	0.0043	0.0040	0.0058	0.0039	0.0038	0.0053	0.0052	0.0009	0.1140	0.0037	0.0089	0	0.0004	0	0.0058	0.0028	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.354	0.42942	B	0.050119	0.23101	N	0.331528	0.952821	0.37802	D	1.935	0.51832	L	1.79	0.25509	T	-0.47	0.15178	N	0.157	0.16308	-1.0636	0.10878	T	0.048	0.20355	T	10	0.003353238	0.00058	T	.	.	.	0.035	0.08770	.	.	0.321951552304	0.31805	0.3501266508268556	0.34926	1.80344454762	0.91689	0.728520035744	0.71291	T	0.052799	0.29262	T	-0.52153	0.00431	T	-0.51153	0.21159	T	0.0912696012676683	0.11368	T	0.589541	0.21661	T	0.088253215	0.20580	0.15538926	0.36427	0.088253215	0.20580	0.15538926	0.36426	-4.065	0.24772	T	.	.	0.098	0.16143	B	.	.	3.305613	0.45399	22.1	0.9977771662788093	0.86519	0.32731	0.24657	N	ALL	0.060762	0.11569	N	-0.218739174308175	0.32365	1.824478	-0.309943375990947	0.27777	1.543724	0.999999999999849	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.71	0.69187	0	.	.	2.96	2.96	0.33383	1.078000	0.30365	4.132000	0.42036	-0.346000	0.05637	0.750000	0.29133	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	9.628	0.38925	553	0.71930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.98	38	chr11	64165918	.	G	A	415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.82;ReadPosRankSum=-4.690e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,20:61:99:430,0,1043	20	0	1	0
chr11	64234111	64234111	T	C	exonic	DNAJC4	.	stoploss	DNAJC4:NM_001307980:exon5:c.T748C:p.X250Q	.	.	408	1113	1	0	0	1	0.000449035	.	.	2431689	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.001	B	0.002	N	1.000	N	0	N	1.84	T	-1.004	T	0.035	T	0.384	0.803	8.225	-2.2	-0.232	-0.053	4.611	0.035	.	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs367822015	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	4.602e-05	0	0	0	0.0003	0.0002	0.0001	1.167e-05	0.0006	0.0006	0.0006	0.0006	0.0003	0.0005	0.0005	0.0002	0.0002	0	0.0746	0	0	0	0	0	0.0003	0.0005	0	0.101	0.30375	T	0.113	0.36901	T	0.002	0.09854	B	0.001	0.04355	B	0.001697	0.00815	N	4.100190	1	0.08975	N	.	.	.	1.84	0.24656	T	-1.13	0.29114	N	0.146	0.14763	-1.0039	0.28785	T	0.035	0.15074	T	10	0.0034494996	0.00061	T	.	.	.	0.035	0.08770	.	.	0.307648195649	0.30373	.	.	0.232989355032	0.25837	0.344902038574	0.17168	T	0.026172	0.19424	T	-0.435304	0.01378	T	-0.544987	0.17810	T	0.0226267953282235	0.00979	T	0.264174	0.04286	T	0.26246879	0.49308	0.105842285	0.25452	0.26246879	0.49308	0.105842285	0.25452	-3.765	0.20282	T	.	.	0.054	0.00321	B	.	.	0.583559	0.09523	6.297	0.43768500704357416	0.03318	0.04212	0.09725	N	AEFDGBCI	0.134862	0.25501	N	-1.03145742176233	0.07956	0.3714022	-1.1421856006169	0.06909	0.3341863	0.999999832046234	0.74766	0.789315	0.99827	0	0.685571	0.66316	0	0.768056	0.98339	0	0.604282	0.37693	0	.	.	4.86	-2.2	0.06601	-0.205000	0.09413	-0.140000	0.11527	-0.150000	0.12128	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3736:0.0:0.4509:0.1754	4.611	0.11793	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1579.98	33	chr11	64234111	.	T	C	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=806;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.820e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1594,0,1458	20	0	1	0
chr11	64914131	64914131	G	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon3:c.C437A:p.P146Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.89	P	0.521	P	0.003	N	1.000	D	1.265	L	0.38	T	-0.987	T	0.144	T	0.191	3.890	19.78	3.89	2.205	3.802	13.792	0.089	0.0211615926821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.175	0.29945	T	0.89	0.48942	P	0.521	0.48239	P	0.002788	0.35935	N	0.226724	0.999985	0.54805	D	1.555	0.39373	L	0.38	0.57575	T	-1.63	0.39119	N	0.35	0.39153	-0.9873	0.33273	T	0.144	0.46714	T	10	0.2113694	0.37563	T	0.021162	0.43885	T	0.089	0.25827	0.366	0.37361	0.187035705434	0.18338	0.4670436836217204	0.46623	1.17208794008	0.79793	0.496590554714	0.38353	T	0.012792	0.11182	T	-0.120391	0.33059	T	-0.41071	0.32143	T	0.896789252758026	0.54857	D	0.720728	0.33361	T	0.09863943	0.23268	0.14412205	0.34227	0.09863943	0.23268	0.14412205	0.34226	-9.331	0.69802	D	.	.	0.138	0.30211	B	.	.	3.955204	0.57969	23.9	0.98821099219611519	0.46786	0.94943	0.62871	D	AEFDBI	0.498063	0.53232	N	0.117858701148678	0.47297	2.957332	0.110016611736745	0.45059	2.775971	0.999999986756825	0.74766	0.695654	0.57023	0	0.611049	0.52481	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.89	3.89	0.44098	3.338000	0.51846	7.472000	0.59162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.392000	0.26603	0.0:0.0:1.0:0.0	13.792	0.62640	300	0.87974	.	.	.	.	.	.	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	0.04762	86.1	35	chr11	64914131	.	G	T	86.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.157e+00;DP=779;ExcessHet=0.1072;FS=73.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=-1.132e+00;SOR=6.183	GT:AD:DP:GQ:PL	0/1:25,10:35:76:76,0,687	19	0	2	0
chr11	65537979	65537979	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon16:c.G1993A:p.D665N	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	.	426	1076	18	2	0	22	0.0101196	.	.	724599	not_provided|SCYL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.188	B	0.014	B	0.545	N	1.000	N	0.895	L	2.34	T	-1.039	T	0.038	T	0.027	0.072	4.392	-1.38	0.012	1.239	2.047	0.040	0.00966244421481	0.0012	0.000399361	0.0013	0.0004	0.0015	0	0	0.0019	0.0016	0.0005	0.000925	143	154602	rs199946104	0.0011	0.0011	0.0010	0.0011	0.0206	0.0010	0.0010	0.0176	0.0165	0.0009	0.0008	0.0111	0	5.635e-05	0.0206	0.0008	0.0025	0.0004	0.0009	0.0009	0.0011	0.0008	0.0009	0.0008	0.0008	0.0007	0.0006	0.0004	0	0.0009	0.0121	0	0	0.0136	0.0009	0.0043	0.0002	0.733	0.08813	T	0.592	0.09795	T	0.186	0.29254	B	0.006	0.16862	B	0.544722	0.05334	N	1.301530	1	0.08975	N	.	.	.	2.33	0.31731	T	0.87	0.04613	N	0.178	0.24758	-1.0390	0.17617	T	0.038	0.16548	T	10	0.004027277	0.00078	T	0.009662	0.25245	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.15940107347417007	0.15861	0.363482546623	0.37975	0.278186440468	0.07240	T	0.037192	0.24383	T	-0.651841	0.00071	T	-0.759542	0.03129	T	0.00163861668264738	0.00017	T	0.780122	0.41972	T	0.032872062	0.03395	0.024632156	0.00486	0.03128957	0.02942	0.02929668	0.01253	-3.44	0.17539	T	.	.	0.067	0.05623	B	.;.;.;.;.;.	.;.;.;.;.;.	1.855739	0.23572	16.07	0.38239398921408457	0.02567	0.14239	0.18297	N	AEFDGBCI	0.165939	0.29247	N	-1.37697946463596	0.02855	0.1266677	-1.42258336447293	0.03027	0.1404354	0.999990312932974	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.12	-1.38	0.08554	0.734000	0.25769	3.667000	0.39425	-0.132000	0.13132	0.001000	0.13787	0.905000	0.28034	0.005000	0.06747	0.1104:0.3129:0.3425:0.2343	2.047	0.03346	278	0.89047	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1616.98	33	chr11	65537979	.	G	A	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=824;ExcessHet=0.0000;FS=3.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.277;SOR=0.906	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1631,0,1596	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:18,0,12,0:30:99:442,497,1254,0,757,721,497,1254,757,1254	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:18,0,12,0:30:99:442,497,1254,0,757,721,497,1254,757,1254	10	0	4	0
chr11	66316120	66316120	G	A	exonic	CD248	.	nonsynonymous SNV	CD248:NM_020404:exon1:c.C908T:p.A303V,	.	.	422	1083	16	1	0	18	0.00824176	.	.	701914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.957	D	0.126	B	0.842	N	1.000	N	0.425	N	-2.22	D	-0.740	T	0.249	T	0.443	0.301	5.630	3.25	0.968	1.314	5.075	0.240	0.0579294218111	0.0061	0.00179712	0.0064	0.0011	0.0061	0	0.0057	0.0092	0.0069	0.0028	0.0064812	1002	154602	rs150281243	0.0079	0.0079	0.0081	0.0078	0.0135	0.0078	0.0078	0.0111	0.0102	0.0016	0.0066	0.0137	0.0001	0.0069	0.0135	0.0088	0.0070	0.0021	0.0061	0.0061	0.0063	0.0059	0.0095	0.0058	0.0057	0.0089	0.0086	0.0019	0.0022	0.0063	0.0098	0.0002	0.0047	0.0136	0.0095	0.0085	0.0010	0.054	0.38633	T	0.506	0.10967	T	0.957	0.54824	D	0.126	0.32692	B	0.841754	0.09028	N	0.919175	1	0.08975	N	0.245	0.09735	N	-2.22	0.87038	D	-1.0	0.26422	N	0.126	0.11912	-0.7401	0.58447	T	0.249	0.61889	T	10	0.0043057203	0.00087	T	0.057929	0.67141	D	0.240	0.54500	.	.	0.7988336948	0.79696	0.6547702050889866	0.65413	0.423427627327	0.42804	0.449543058872	0.31881	T	0.077354	0.35636	T	-0.305041	0.08192	T	-0.201551	0.54499	T	0.0101192628221887	0.00136	T	0.567243	0.20104	T	0.052591223	0.09831	0.06954251	0.14664	0.052591223	0.09831	0.06954251	0.14664	-8.076	0.61587	D	.	.	0.191	0.40984	B	.	.	2.621581	0.34067	19.52	0.98622802842898982	0.43798	0.05165	0.10981	N	AEFDGBCI	0.063403	0.12250	N	-0.53660306398575	0.20905	1.105547	-0.609376047189201	0.19252	1.032101	0.999996709359862	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.17	3.25	0.36363	0.770000	0.26280	9.790000	0.81641	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.450000	0.27895	0.1088:0.0:0.6862:0.205	5.075	0.13961	86	0.96395	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	0.04762	5679.11	46	chr11	66316120	.	G	A	5679.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.348;DP=1311;ExcessHet=0.1072;FS=2.443;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.69;SOR=0.658	GT:AD:DP:GQ:PL	0/1:120,122:242:99:3145,0,3151	19	0	2	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/1:28,29,0,0:57:99:1102,0,1086,1186,1173,2359,1186,1173,2359,2359	5	4	8	0
chr11	67409501	67409501	G	A	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.G785A:p.R262Q	.	.	424	1030	61	7	0	75	0.0351288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.474	N	0.816	N	1.1	L	3.27	T	-0.987	T	0.008	T	0.099	0.686	7.666	-2.56	-0.752	-0.234	6.093	0.016	.	0.0013	0.00519169	0.0103	0.0020	0	0	0	0.0107	0.0076	0.0112	0.002044	316	154602	rs149140675	0.0037	0.0036	0.0034	0.0040	0.0475	0.0036	0.0036	0.0427	0.0409	0.0019	0.0048	0.0117	0.0004	0.0040	0.0475	0.0027	0.0075	0.0104	0.0038	0.0038	0.0037	0.0040	0.0110	0.0036	0.0035	0.0086	0.0078	0.0006	0	0.0065	0.0141	0.0006	0.0030	0.0272	0.0042	0.0147	0.0110	0.168	0.23007	T	0.265	0.22694	T	0.002	0.09854	B	0.002	0.06944	B	0.474252	0.12241	N	0.688838	1	0.28947	N	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.114	0.10198	-0.9866	0.33445	T	0.008	0.02720	T	10	0.0037960112	0.00071	T	.	.	.	0.016	0.02506	.	.	0.12205267543	0.11705	0.2705067848096566	0.26963	.	.	0.376769483089	0.21798	T	0.024103	0.18278	T	-0.691135	0.00041	T	-0.756149	0.03253	T	0.000306898303968616	0.00002	T	0.721228	0.33447	T	0.039088134	0.05330	0.053378228	0.08979	0.039088134	0.05330	0.053378228	0.08978	-4.807	0.34673	T	.	.	0.067	0.02458	B	.	.	0.956254	0.13325	9.829	0.95951858910698251	0.28275	0.01645	0.05289	N	ALL	0.026810	0.02078	N	-1.26242745027156	0.04137	0.1861875	-1.32657734763861	0.04090	0.1921831	0.999999999997694	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	-2.56	0.05903	-0.133000	0.10430	0.285000	0.16810	-0.135000	0.12811	0.002000	0.15269	0.136000	0.23046	0.070000	0.16646	0.5777:0.0:0.2774:0.1449	6.093	0.19226	580	0.69689	.	.	.	.	.	.	Likely benign	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	0.02381	515.98	33	chr11	67409501	.	G	A	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=743;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-2.890e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:26,21:47:99:530,0,654	20	0	1	0
chr11	67417659	67417659	G	A	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_001166222:exon3:c.G256A:p.G86S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	.	.	1.000	D	-0.345	N	1.96	T	-1.044	T	0.022	T	0.062	0.118	4.635	4.11	0.648	1.728	7.406	0.094	0.00619525824218	.	0.000199681	0.0017	0	0	0	0	0.0031	0	0	0.000207	32	154602	rs528055975	0.0010	0.0008	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0010	0.0002	0.0001	0	0	0	0.0002	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0002	0	0.0003	0	0	0	0	0.0011	0	0.0006	1.0	0.00964	T	0.747	0.04860	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.92	0.23082	T	1.49	0.00747	N	0.095	0.07535	-1.0438	0.16177	T	0.022	0.09375	T	9	0.0052271783	0.00114	T	0.006195	0.16229	T	0.094	0.27141	.	.	0.112648838833	0.10856	0.0998181176852224	0.09912	0.0938026689721	0.10595	0.509859442711	0.40202	T	.	.	.	-0.638932	0.00085	T	-0.695485	0.06075	T	0.0460777085242652	0.04799	T	0.170983	0.01619	T	.	.	.	.	.	.	.	.	-4.024	0.24683	T	.	.	0.057	0.00604	B	.;.	.;.	2.851298	0.37648	20.5	0.84988932511304638	0.15618	0.00961	0.03687	N	AEFGBI	0.092882	0.18799	N	-0.829005724227071	0.12572	0.6136798	-0.598945214389119	0.19519	1.047685	0.999991090405296	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.11	4.11	0.47350	1.389000	0.34060	7.990000	0.76108	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.897:0.0:0.103:0.0	7.406	0.26162	658	0.62094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	33	chr11	67417659	.	G	A	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.041e+00;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,23:51:99:608,0,696	20	0	1	0
chr11	67665318	67665318	C	G	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon7:c.G673C:p.G225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.565	H	-2.11	D	0.810	D	0.826	D	0.56	2.682	14.93	3.24	1.078	5.569	11.656	0.665	0.37163078063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.997	0.70673	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-2.11	0.86216	D	-7.65	0.95483	D	0.622	0.63713	0.810	0.94539	D	0.826	0.94161	D	10	0.92759204	0.92104	D	0.371631	0.92760	D	0.665	0.87527	0.745	0.87654	0.973820948239	0.97354	0.946104343734054	0.94592	0.843832590976	0.68192	0.61187171936	0.54581	T	0.447545	0.78977	T	0.186772	0.72665	D	0.0305088	0.72311	D	0.995519638061523	0.87564	D	0.982302	0.94028	D	0.8804521	0.89704	0.8785995	0.93463	0.8804521	0.89705	0.8785995	0.93464	-8.697	0.65726	D	.	.	0.604	0.69049	P	.;.	.;.	4.212062	0.63645	24.6	0.9988358054811135	0.95892	0.94636	0.61815	D	AEFDGBCI	0.764360	0.70117	D	0.565156093187591	0.71010	5.586322	0.387693354528932	0.60805	4.272352	0.999810259483584	0.43459	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.16	3.24	0.36257	3.897000	0.55986	4.395000	0.43227	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.121000	0.19209	0.0:0.9105:0.0:0.0895	11.656	0.50581	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2499.98	35	chr11	67665318	.	C	G	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.694e+00;DP=918;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.20;MQRankSum=-8.460e-01;QD=13.97;ReadPosRankSum=1.000e-03;SOR=0.799	GT:AD:DP:GQ:PL	0/1:78,101:179:99:2514,0,1981	20	0	1	0
chr11	68042754	68042754	G	A	exonic	TCIRG1	.	nonsynonymous SNV	TCIRG1:NM_006019:exon4:c.G308A:p.R103H,	Osteopetrosis, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1881447	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.984	D	0.000	D	1.000	D	2.09	M	-2.09	D	0.490	D	0.721	D	0.45	4.501	24.2	3.66	2.278	2.765	10.721	0.628	0.471687351411	.	.	8.089e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775326246	3.512e-05	3.489e-05	2.829e-05	4.215e-05	0.0003	2.689e-05	2.422e-05	0.0002	0.0001	6.348e-05	2.805e-05	0	0	0	0.0002	2.226e-05	0	0.0003	3.286e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0002	0.015	0.78490	D	0.021	0.61642	D	1.0	0.90584	D	0.984	0.76113	D	0.000034	0.55875	D	0.116224	0.999756	0.48800	D	1.845	0.48678	L	-2.09	0.86077	D	-2.81	0.65056	D	0.131	0.12627	0.490	0.90411	D	0.721	0.90433	D	10	0.5685036	0.65186	D	0.471687	0.94691	D	0.628	0.85666	0.533	0.64148	0.915946754987	0.91510	0.31148735903039576	0.31061	0.732161310165	0.62773	0.586467385292	0.50997	T	0.668014	0.90114	D	-0.117262	0.33571	T	-0.116072	0.62124	T	0.629450738430023	0.37595	D	0.881212	0.72366	D	0.19493483	0.41263	0.12061312	0.29107	0.19493483	0.41263	0.12061312	0.29106	-6.312	0.48817	T	0.20589536589764915	0.27481	0.096	0.16800	B	.;.;.	.;.;.	4.716616	0.75825	26.4	0.99951158544216956	0.99944	0.80619	0.40210	D	AEFDGBCI	0.465787	0.51371	N	0.536484189666425	0.69261	5.332198	0.471685334583433	0.66121	4.91098	0.999999981448716	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.6	3.66	0.41111	1.471000	0.34973	5.347000	0.48362	0.590000	0.31872	0.069000	0.22043	1.000000	0.68203	0.590000	0.31140	0.0992:0.0:0.9008:0.0	10.721	0.45240	783	0.47268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	34	chr11	68042754	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=810;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.448e+00;SOR=0.395	GT:AD:DP:GQ:PL	0/1:32,25:57:99:655,0,818	20	0	1	0
chr11	72712307	72712307	G	A	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon5:c.C176T:p.S59F	.	.	416	1091	14	1	0	16	0.00727934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.32	B	0.128	B	0.114	N	1.000	N	0.345	N	2.66	T	-1.014	T	0.025	T	0.101	0.772	8.079	4.44	2.313	0.763	15.803	0.060	0.0104790606863	.	0.00119808	0.0006	0	0.0002	0	0	3.191e-05	0.0013	0.0059	0.0006145	95	154602	rs564508135	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.068e-05	9.708e-05	0	0	0	0.0020	2.299e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0	2.941e-05	0.0009	0.0056	0.097	0.59928	T	0.006	0.70582	D	0.32	0.32998	B	0.128	0.32786	B	0.113848	0.19298	N	0.458052	1	0.08975	N	0.695	0.17993	N	2.66	0.12575	T	-2.5	0.54382	D	0.275	0.31140	-1.0144	0.25529	T	0.025	0.10509	T	10	0.00421831	0.00084	T	0.010479	0.27066	T	0.060	0.17295	0.297	0.26202	0.178374595973	0.17440	0.2345567832493984	0.23370	0.48673151323	0.47522	0.289835035801	0.08899	T	0.084939	0.37391	T	-0.625394	0.00102	T	-0.670708	0.07563	T	0.0461487104332047	0.04811	T	0.875412	0.58869	D	0.040933747	0.05935	0.07143938	0.15297	0.040933747	0.05935	0.07143938	0.15297	-7.08	0.58694	T	.	.	0.108	0.30130	B	.;.;.;.;.;.	.;.;.;.;.;.	2.063201	0.26232	17.05	0.98576548191267666	0.43180	0.18095	0.20117	N	AEFDGBIJ	0.082259	0.16654	N	-0.639008555564972	0.17781	0.9179098	-0.623555673903692	0.18888	1.01105	0.999999516489814	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	0.549000	0.23037	5.439000	0.48614	0.662000	0.56354	0.046000	0.21249	0.999000	0.35428	0.011000	0.09372	0.0:0.0:1.0:0.0	15.803	0.78247	452	0.79239	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	34	chr11	72712307	.	G	A	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.630;DP=816;ExcessHet=0.0000;FS=4.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.527;SOR=0.821	GT:AD:DP:GQ:PL	0/1:58,32:90:99:722,0,1491	20	0	1	0
chr11	73308982	73308982	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C344T:p.A115V,	.	.	429	1017	70	6	0	82	0.0387524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	0.958	N	0.695	N	0.4	T	-1.028	T	0.060	T	0.086	3.839	19.50	2.84	0.563	2.147	8.444	0.037	.	.	0.0103834	0.0702	0	0	0	.	0.0718	0	0.0779	0.0042173	652	154602	rs138821110	0.0071	0.0070	0.0064	0.0079	0.0391	0.0070	0.0070	0.0345	0.0327	0.0020	0.0062	0.0385	0	0.0025	0.0391	0.0054	0.0103	0.0303	0.0061	0.0061	0.0058	0.0063	0.0203	0.0057	0.0056	0.0171	0.0158	0.0017	0	0.0085	0.0343	0.0002	0.0012	0.0274	0.0067	0.0147	0.0203	0.133	0.26409	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958337	0.26228	N	0.805	0.20218	L	0.4	0.57261	T	-0.48	0.15379	N	0.086	0.06322	-1.0278	0.21168	T	0.060	0.25127	T	9	0.0018773079	0.00025	T	.	.	.	0.037	0.09474	.	.	.	.	0.2112261720823509	0.21038	0.420411585227	0.42572	0.87365937233	0.93088	D	0.012857	0.11224	T	-0.502128	0.00556	T	-0.469674	0.25551	T	0.0463361906583269	0.04844	T	0.437256	0.12012	T	0.031170215	0.02909	0.12089603	0.29172	0.031170215	0.02908	0.12089603	0.29171	-5.419	0.41102	T	.	.	0.104	0.18746	B	.	.	2.367257	0.30367	18.42	0.99659934032971631	0.77883	0.16498	0.19417	N	ALL	0.072673	0.14512	N	-0.928686673885686	0.10175	0.4849995	-0.822539757875643	0.13949	0.7263908	0.999999999997495	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.76	2.84	0.32241	0.288000	0.18695	1.582000	0.27480	-1.078000	0.01575	0.570000	0.27505	0.002000	0.18203	0.743000	0.35541	0.0:0.8855:0.0:0.1145	8.444	0.31992	618	0.66225	.	.	.	.	.	.	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	0.04762	868.11	42	chr11	73308982	.	C	T	868.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.167;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.846;SOR=0.817	GT:AD:DP:GQ:PL	0/1:21,18:39:99:433,0,557	19	0	2	0
chr11	73394296	73394296	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon8:c.C767T:p.T256M	.	.	422	1025	69	6	0	81	0.0380103	.	.	3193193	RELT-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.818	P	0.001	N	0.566	N	1.995	M	-1.08	T	0.120	D	0.432	T	0.448	4.038	20.7	4.64	1.326	2.721	13.447	0.323	.	0.0068	0.0103834	0.0106	0.0017	0.0070	0	0.0024	0.0089	0.0127	0.0317	0.0082793	1280	154602	rs141813904	0.0073	0.0074	0.0063	0.0084	0.0390	0.0072	0.0072	0.0345	0.0327	0.0017	0.0058	0.0374	0	0.0024	0.0390	0.0052	0.0101	0.0310	0.0059	0.0059	0.0057	0.0060	0.0212	0.0055	0.0054	0.0178	0.0166	0.0014	0	0.0079	0.0331	0	0.0012	0.0272	0.0066	0.0133	0.0212	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.818	0.58969	P	0.001434	0.39044	N	0.263770	0.566451	0.31214	N	2.42	0.70002	M	-1.08	0.77078	T	-2.48	0.54059	N	0.326	0.36884	0.120	0.84534	D	0.432	0.77374	T	10	0.0034896135	0.00062	T	.	.	.	0.323	0.64522	.	.	0.721200597378	0.71874	0.31165544827705494	0.31078	0.457268634728	0.45370	0.392182976007	0.23976	T	0.060363	0.31366	T	-0.294319	0.09206	T	-0.173233	0.57146	T	0.0320297691386701	0.02311	T	0.837416	0.50983	T	0.124951266	0.29305	0.1778103	0.40407	0.1269353	0.29717	0.1778103	0.40407	-5.427	0.41178	T	0.14549929563050834	0.16709	0.096	0.15564	B	.;.	.;.	4.493811	0.70227	25.5	0.99910783101433076	0.98022	0.83453	0.42569	D	AEFDBCI	0.147449	0.27112	N	0.49840717134452	0.66996	5.023172	0.470972948474625	0.66075	4.90504	0.999999766369978	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.57	4.64	0.57399	1.518000	0.35484	5.878000	0.50610	0.599000	0.40250	0.009000	0.18154	1.000000	0.68203	0.986000	0.61781	0.0:0.8426:0.1574:0.0	13.447	0.60600	394	0.83065	.;.	.	.	.	.	rs141813904	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	0.04762	1750.11	33	chr11	73394296	.	C	T	1750.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.17;DP=838;ExcessHet=0.1072;FS=3.811;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.17;SOR=0.451	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1115,0,644	19	0	2	0
chr11	75429936	75429936	G	A	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon1:c.C694T:p.R232C,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.939	D	0.195	N	1.000	N	2.145	M	-0.41	T	-0.733	T	0.360	T	0.455	3.280	17.01	2.34	0.436	2.030	4.365	0.262	0.641029159092	.	0.000998403	0.0025	0	0.0063	0	0	0	0	0.0037	0.0002781	43	154602	rs551557850	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	3.835e-05	0.0002	0	3.548e-05	0	0.0012	9.353e-05	0.0005	0.0029	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	6.544e-05	0	0.0002	0	0.0034	5.885e-05	0.0009	0.0035	0.205	0.22573	T	0.15	0.37589	T	.	.	.	.	.	.	0.195368	0.16738	N	0.578564	0.999891	0.19781	N	.	.	.	-0.41	0.69413	T	-1.34	0.38345	N	0.152	0.20262	-0.7333	0.58796	T	0.360	0.72163	T	10	0.0089455545	0.00202	T	0.641029	0.96940	D	0.262	0.57482	.	.	0.441844919209	0.43804	0.36996556112159346	0.36910	0.0983695897329	0.11110	0.905556023121	0.97033	D	0.27249	0.64488	T	-0.333613	0.05843	T	-0.25598	0.49223	T	0.150394034648191	0.17135	T	0.813919	0.46746	T	0.1207513	0.28409	0.12527245	0.30185	0.1207513	0.28408	0.12527245	0.30185	-8.129	0.61946	D	.	.	0.164	0.44579	B	.;.	.;.	4.183772	0.63000	24.5	0.99801720000296634	0.88639	0.72560	0.35511	D	ALL	0.459403	0.51002	N	0.320569898658909	0.57205	3.887029	0.232744350982989	0.51673	3.347849	0.999999999997827	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.24	2.34	0.28071	2.205000	0.42407	4.507000	0.43632	0.562000	0.28470	0.695000	0.28578	1.000000	0.68203	0.959000	0.51448	0.203:0.1891:0.608:0.0	4.365	0.10655	773	0.48803	BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2886.11	33	chr11	75429936	.	G	A	2886.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.29;DP=895;ExcessHet=0.1072;FS=0.985;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.921;SOR=0.636	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1238,0,766	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.45	B	0.152	B	0.015	N	1.000	D	1.73	L	1.47	T	-1.099	T	0.055	T	0.693	3.540	18.06	5.55	2.326	2.521	13.692	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	37	chr11	75983505	.	A	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=843;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-7.960e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/1:79,72:151:99:1668,0,1912	20	0	1	0
chr11	76403938	76403938	A	C	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001282456:exon2:c.A661C:p.M221L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.008	T	0.081	T	0.203	1.114	9.545	0.597	0.475	0.901	.	0.037	0.00204619290067	.	0.000599042	0.0004	0	0.0056	0	0	0.0009	0.0078	0	0.0002393	37	154602	rs142522395	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0006	0.0012	0.0011	0	0.0015	0	0	2.977e-05	0.0010	0.0008	0.0008	0	0.0018	0.0018	0.0020	0.0016	0.0014	0.0016	0.0016	0.0009	0.0008	0.0002	0.1923	0.0014	0	0	0.0002	0	0.0010	0.0014	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.23	0.10656	N	0.257	0.29081	-1.0083	0.27448	T	0.081	0.31913	T	3	0.0024774075	0.00037	T	0.002046	0.03721	T	0.037	0.09474	0.377	0.39156	0.0611884634855	0.05136	0.05169454920146867	0.05111	.	.	.	.	.	0.008375	0.07697	T	-0.434295	0.01397	T	-0.421239	0.30934	T	0.0478203110007061	0.05112	T	0.30207	0.05709	T	0.68416625	0.77194	0.53697884	0.73243	0.68416625	0.77196	0.53697884	0.73243	-2.228	0.04178	T	.	.	0.158	0.34992	B	.	.	0.997638	0.13759	10.30	0.82596441659246755	0.14275	0.04607	0.10264	N	AEFBI	.	.	.	-0.527049170910825	0.21210	1.123876	-0.708672430121956	0.16745	0.8872581	1.39751527619454E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	0.597	0.597	0.16685	0.895000	0.27996	0.600000	0.19915	0.587000	0.30956	0.727000	0.28892	0.100000	0.22660	0.887000	0.42601	.	.	.	865	0.32612	.	.	.	.	.	.	Likely benign	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	0.02381	1080.98	34	chr11	76403938	.	A	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.348;DP=797;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.387e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1095,0,1509	20	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	.	.	.	.	.	.	.	.	0.55	T	0.008	B	0.033	B	0.002	N	1.000	D	1.79	L	-1.74	D	-0.692	T	0.250	T	0.611	1.550	11.14	4.01	1.370	1.295	12.583	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	937.98	37	chr11	78101029	.	C	T	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=909;ExcessHet=0.0000;FS=2.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=2.20;SOR=0.972	GT:AD:DP:GQ:PL	0/1:69,39:108:99:952,0,1800	20	0	1	0
chr11	85981206	85981206	C	T	exonic	PICALM	.	nonsynonymous SNV	PICALM:NM_001008660:exon16:c.G1552A:p.G518S	Leukemia, acute myeloid, somatic	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	B	0.045	B	0.000	D	1.000	D	1.21	L	0.91	T	-0.836	T	0.215	T	0.509	3.479	17.80	5.27	2.635	5.732	14.541	0.078	0.016500401635	7.7e-05	.	5.768e-05	0	0	0	0	8.995e-05	0	6.059e-05	5.17e-05	8	154602	rs369070232	8.954e-05	9.374e-05	8.72e-05	9.189e-05	0.0003	7.665e-05	7.205e-05	0.0001	0.0001	0	4.477e-05	0	0	0	0.0003	9.243e-05	0.0001	0.0002	7.883e-05	7.88e-05	7.706e-05	8.068e-05	0.0002	4.496e-05	3.511e-05	4.764e-05	3.338e-05	7.239e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0002	0.206	0.30800	T	0.453	0.13441	T	0.001	0.19075	B	0.002	0.21085	B	0.000001	0.84330	D	0.054258	0.999907	0.52396	D	1.09	0.27330	L	0.91	0.44856	T	-2.74	0.58248	D	0.463	0.52829	-0.8361	0.52904	T	0.215	0.57679	T	9	0.26051572	0.43501	T	0.017	0.37786	T	0.095	0.27398	.	.	0.508253470527	0.50464	0.6366169520387644	0.63595	0.0208092770447	0.02056	0.743304729462	0.73459	T	0.422475	0.77354	T	-0.212335	0.19051	T	-0.351098	0.39079	T	0.113398291170597	0.13773	T	0.957804	0.84101	D	0.20774856	0.42990	0.2304416	0.48147	0.20774856	0.42990	0.2304416	0.48146	-5.281	0.49424	T	.	.	0.112	0.29450	B	.;.;.;.;.	.;.;.;.;.	4.115600	0.61477	24.3	0.98919399121225371	0.48527	0.98035	0.79053	D	AEFDBI	0.792305	0.72064	D	0.361567124562818	0.59354	4.113997	0.45714238304081	0.65179	4.790969	0.999999986629083	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	5.786000	0.68654	7.716000	0.67067	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9271:0.0:0.0729	14.541	0.67579	609	0.67094	.;.;.;.;.	.	.	.	.	.	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	0.02381	525.98	38	chr11	85981206	.	C	T	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=-1.800e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:43,26:69:99:540,0,1087	20	0	1	0
chr11	92890785	92890785	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon26:c.A13346G:p.D4449G	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	.	.	1.000	D	0.145	N	1.75	T	-1.072	T	0.031	T	0.134	1.311	10.30	-0.546	-0.110	0.071	9.728	0.026	0.00821650117094	0.0005	0.000199681	0.0005	0.0001	0	0	0	0.0008	0	0.0004	0.0004722	73	154602	rs200705741	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.974e-05	0	0	2.519e-05	0.0001	0.0002	0.0007	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	9.648e-05	0	6.545e-05	0	0	0	0	0.0006	0	0.0006	0.287	0.15613	T	0.797	0.04104	T	.	.	.	.	.	.	.	.	.	.	0.880829	0.31529	N	.	.	.	1.75	0.26152	T	-0.19	0.15178	N	0.093	0.11626	-1.0723	0.08915	T	0.031	0.13199	T	9	0.011312038	0.00248	T	0.008217	0.21776	T	0.026	0.05648	.	.	0.143184338766	0.13958	0.38288039528817996	0.38203	.	.	0.359701454639	0.19342	T	0.307443	0.67959	T	-0.516389	0.00462	T	-0.603689	0.12503	T	0.00627841899703159	0.00070	T	.	.	.	0.060437307	0.12401	0.07412357	0.16182	0.060437307	0.12400	0.07412357	0.16182	-2.974	0.09903	T	.	.	0.072	0.05800	B	.;.;.	.;.;.	1.262769	0.16608	12.65	0.93762368766245419	0.23709	0.18800	0.20407	N	AEFI	0.084428	0.17110	N	-0.77276359916956	0.14023	0.6952326	-0.680949129383873	0.17437	0.9272005	0.00527703207421042	0.10885	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.66	-0.546	0.11248	1.215000	0.32035	2.306000	0.32047	0.756000	0.94297	0.789000	0.29582	1.000000	0.68203	0.961000	0.51904	0.6409:0.0:0.3591:0.0	9.728	0.39508	699	0.57969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2831.98	38	chr11	92890785	.	A	G	2831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=952;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-5.470e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:102,102:204:99:2846,0,2809	20	0	1	0
chr11	93370100	93370100	G	C	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.G460C:p.D154H,	.	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.000	D	1.000	D	1.78	L	1.93	T	-0.920	T	0.156	T	0.889	4.131	21.3	5.5	2.584	6.201	18.413	0.243	0.0153252250419	.	0.000798722	0.0009	0	0.0001	0	0	0.0003	0	0.0052	0.0005498	85	154602	rs530435017	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	3.006e-05	6.811e-05	0	0	0	0.0023	6.78e-05	0.0003	0.0044	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0033	0.002	0.72154	D	0.013	0.63918	D	1.0	0.90584	D	0.991	0.79672	D	0.000015	0.62929	D	0.069788	0.999352	0.46766	D	2.175	0.60977	M	1.93	0.22881	T	-3.06	0.63901	D	0.744	0.76111	-0.9198	0.45581	T	0.156	0.48824	T	10	0.0105677545	0.00235	T	0.015325	0.35999	T	0.243	0.54921	0.132	0.03662	0.516106911764	0.51253	0.3527545360203853	0.35189	0.176979797183	0.19917	0.676907420158	0.63826	T	0.166543	0.51282	T	-0.133978	0.30855	T	0.0350404	0.72606	D	0.1253344589724	0.14944	T	0.89491	0.65300	D	0.6133267	0.73406	0.6620582	0.80195	0.6133267	0.73407	0.6620582	0.80196	-6.292	0.48658	T	.	.	0.671	0.77255	P	.;.;.;.	.;.;.;.	4.863370	0.79599	27.1	0.99560200373940178	0.71707	0.97965	0.78484	D	AEFBI	0.755375	0.69496	D	0.746421382133822	0.82671	7.820593	0.743134228562716	0.85641	8.642238	0.780320994261746	0.23830	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	6.312000	0.72804	11.620000	0.93612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, 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	0.02381	720.98	33	chr11	93370100	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.140e-01;DP=766;ExcessHet=0.0000;FS=3.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-8.880e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/1:32,30:62:99:735,0,872	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,124,0:127:99:1|1:96092210_TTGCTGCTGC_T:4142,306,0,4151,371,4216:96092210	0	17	3	0
chr11	100193496	100193496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon12:c.A1495G:p.R499G	.	.	437	1054	27	4	0	35	0.0163322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.859	P	0.000	D	0.996	D	2.05	M	1.58	T	-0.932	T	0.147	T	0.738	3.496	17.87	3.52	0.440	1.403	12.087	0.219	.	0.0007	0.00159744	0.0044	0	0.0030	0	0	0.0027	0	0.0161	0.0020569	318	154602	rs200731024	0.0016	0.0016	0.0012	0.0020	0.0123	0.0015	0.0015	0.0117	0.0114	3.133e-05	0.0012	0.0107	0	0	0.0071	0.0007	0.0023	0.0123	0.0011	0.0011	0.0009	0.0012	0.0097	0.0009	0.0009	0.0075	0.0067	7.223e-05	0	0.0012	0.0078	0	0	0.0170	0.0009	0.0024	0.0097	0.012	0.54683	D	0.035	0.53072	D	0.96	0.55278	D	0.859	0.61184	P	0.000012	0.62929	D	0.175821	0.996414	0.43191	D	2.275	0.64647	M	1.58	0.29085	T	-3.91	0.74427	D	0.668	0.69562	-0.9319	0.43859	T	0.147	0.47255	T	10	0.013655394	0.00289	T	.	.	.	0.219	0.51417	.	.	0.563062970572	0.55969	0.8011983030890661	0.80073	0.248086709268	0.27368	0.428054273129	0.28942	T	0.612741	0.87751	D	-0.323379	0.06624	T	-0.227893	0.51976	T	0.120874370237199	0.14515	T	0.822518	0.48242	T	0.3360538	0.55963	0.38919717	0.63745	0.3360538	0.55963	0.38919717	0.63745	-9.233	0.69185	D	.	.	0.237	0.61316	B	.;.;.;.;.;.	.;.;.;.;.;.	3.973132	0.58349	24.0	0.9982098746423943	0.90414	0.79615	0.39485	D	AEFI	0.469586	0.51590	N	0.342777765884519	0.58359	4.007656	0.311364403568257	0.56206	3.78372	3.46423760961881E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.52	0.39415	1.332000	0.33410	6.815000	0.56657	0.756000	0.94297	0.955000	0.33325	1.000000	0.68203	0.971000	0.54645	0.7274:0.2726:0.0:0.0	12.087	0.53001	946	0.12043	.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;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	0.02381	1137.98	34	chr11	100193496	.	A	G	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=788;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.723;SOR=0.821	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1152,0,1037	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:100,0,52:152:99:0|1:106010659_C_G:999,1298,4987,0,3689,3537:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	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	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:100,0,52:152:99:0|1:106010659_C_G:999,1298,4987,0,3689,3537:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,52:152:99:0|1:106010659_C_G:999,0,3537:106010659	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	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	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,0,53:155:99:0|1:106010659_C_G:1001,1305,5035,0,3731,3576:106010659	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	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	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,0,53:155:99:0|1:106010659_C_G:1001,1305,5035,0,3731,3576:106010659	9	0	2	7
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.034	B	0.000	D	0.974	D	0	N	.	.	-0.972	T	0.117	T	0.382	2.309	13.68	5.88	2.244	5.797	16.275	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	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	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	2371.93	115	chr11	106010664	.	A	G	2371.93	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.480e+00;DP=2731;ExcessHet=0.6776;FS=248.284;InbreedingCoeff=-0.3238;MLEAC=7;MLEAF=0.389;MQ=60.00;MQRankSum=0.00;QD=3.64;ReadPosRankSum=3.40;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,53:154:99:0|1:106010659_C_G:1004,0,3534:106010659	5	0	4	12
chr11	107348964	107348966	CAA	-	exonic	CWF19L2	.	nonframeshift deletion	CWF19L2:NM_152434:exon14:c.2173_2175del:p.L725del,	.	.	435	1037	49	1	0	51	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.00459265	0.0049	0.0007	0.0025	0	0.0002	0.0037	0.0078	0.0191	0.000461	12	26028	rs368279169	0.0030	0.0030	0.0023	0.0036	0.0209	0.0029	0.0029	0.0184	0.0180	0.0005	0.0022	0.0169	2.532e-05	7.507e-05	0.0209	0.0016	0.0042	0.0191	0.0025	0.0025	0.0022	0.0029	0.0197	0.0023	0.0022	0.0165	0.0153	0.0004	0	0.0019	0.0216	0	9.429e-05	0.0170	0.0022	0.0066	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2926.07	33	chr11	107348963	.	CCAA	C	2926.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.62;DP=781;ExcessHet=0.1072;FS=1.467;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.60;ReadPosRankSum=0.352;SOR=0.898	GT:AD:DP:GQ:PL	0/1:23,30:53:99:1182,0,855	19	0	2	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	1	1484	37	0	0	37	0.0123128	.	.	132799	not_specified|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|Malignant_tumor_of_breast	MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.175	L	0.55	T	-1.027	T	0.068	T	0.69	-0.024	3.890	1.13	-0.045	0.130	9.764	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	997.98	41	chr11	108251973	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=772;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.740e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1012,0,1128	20	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A	.	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	0.783	N	3.155	M	1.92	T	-0.380	T	0.419	T	0.476	4.143	21.4	4.29	2.324	5.115	15.055	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4193.68	34	chr11	114530269	.	G	C	4193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.37;DP=1039;ExcessHet=0.3300;FS=3.866;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.300;SOR=0.877	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1680,0,1917	18	0	3	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,75:218:99:1|0:117918597_CGGGCTGGAGATGCCT_C:2801,3328,7807,0,2840,2716:117918597	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,75:218:99:1|0:117918597_CGGGCTGGAGATGCCT_C:2801,3328,7807,0,2840,2716:117918597	1	0	0	0
chr11	119108075	119108075	G	A	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001290474:exon1:c.G334A:p.E112K	.	.	404	1086	32	0	0	32	0.0145191	.	.	2809936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.487	P	0.113	B	0.013	N	1.000	D	1.385	L	1.7	T	-1.097	T	0.030	T	0.471	3.528	18.01	2.87	1.227	4.058	6.801	0.053	0.0136424806014	0.0006	0.00119808	0.0021	0.0001	0.0004	0	0.0019	0.0019	0.0061	0.0059	0.0017076	264	154602	rs140064567	0.0014	0.0014	0.0012	0.0017	0.0095	0.0014	0.0013	0.0074	0.0067	0.0002	0.0004	0	2.716e-05	0.0038	0.0095	0.0011	0.0016	0.0055	0.0015	0.0015	0.0015	0.0016	0.0060	0.0014	0.0013	0.0043	0.0037	0.0001	0	0.0011	0	0	0.0035	0.0034	0.0021	0.0019	0.0060	0.061	0.37118	T	0.08	0.41913	T	0.487	0.36886	P	0.113	0.31689	B	0.013348	0.28869	N	0.411746	1	0.81001	D	2.02	0.55341	M	1.7	0.26885	T	-1.87	0.43717	N	0.515	0.54584	-1.0975	0.04407	T	0.030	0.12979	T	10	0.009098738	0.00206	T	0.013642	0.33196	T	0.053	0.14996	.	.	0.0675242888579	0.06100	0.4890111827134518	0.48821	1.16216209601	0.79521	0.711971521378	0.68879	T	0.074185	0.34876	T	-0.410295	0.01978	T	-0.360908	0.37948	T	0.0664798463447457	0.08148	T	0.907609	0.68535	D	0.28006068	0.51054	0.21071127	0.45469	0.28006068	0.51054	0.21071127	0.45468	-5.959	0.45986	T	.	.	0.167	0.37783	B	.;.	.;.	4.113785	0.61430	24.3	0.99808980960528393	0.89264	0.84728	0.43816	D	AEFDGBHCI	0.554215	0.56515	D	0.0242269093660575	0.42957	2.598314	0.109384698122737	0.45026	2.773317	0.999997571027133	0.74766	0.65757	0.49021	0	0.298843	0.05288	2	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.87	2.87	0.32523	3.552000	0.53452	4.818000	0.45095	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1018:0.4189:0.4793:0.0	6.801	0.22938	228	0.91137	.;.	.	.	.	.	.	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	0.02381	960.98	37	chr11	119108075	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.496;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,41:81:99:975,0,944	20	0	1	0
chr11	123600478	123600478	C	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon7:c.C431G:p.T144S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.403	B	0.128	B	0.000	D	1.000	D	1.78	L	1.79	T	-1.056	T	0.106	T	0.53	3.048	16.17	5.73	2.696	5.998	19.891	0.121	0.00697488557153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.40068	T	0.157	0.92824	T	0.025	0.19245	B	0.013	0.16460	B	0.000000	0.84330	D	0.048965	0.999998	0.58761	D	.	.	.	1.78	0.33630	T	-2.88	0.66665	D	0.505	0.61087	-1.0557	0.12855	T	0.106	0.38587	T	10	0.36328462	0.52902	T	0.006975	0.18458	T	0.121	0.33580	0.433	0.48336	0.0675242888579	0.06100	0.8389768776895002	0.83857	1.02529329724	0.75255	0.76203763485	0.76233	T	0.097725	0.59242	T	-0.0559376	0.43538	T	-0.318127	0.42779	T	0.93644791841507	0.60545	D	0.90461	0.66442	D	0.31020585	0.53803	0.22864804	0.47913	0.31020585	0.53803	0.22864804	0.47912	-8.741	0.67536	D	.	.	0.877	0.81814	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.016935	0.59304	24.1	0.99209496487932602	0.55533	0.98003	0.78791	D	AEFBI	0.834871	0.75286	D	0.179194077642483	0.50201	3.212391	0.339800409405817	0.57896	3.957203	0.999999991249642	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	6.139000	0.71482	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	19.891	0.96928	702	0.57624	GRAM domain;GRAM domain;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	34.89	50	chr11	123600478	.	C	G	34.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.787e+00;DP=1170;ExcessHet=0.1072;FS=171.116;InbreedingCoeff=-0.0862;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=0.843;SOR=9.419	GT:AD:DP:GQ:PL	0/1:41,16:57:22:22,0,700	17	0	2	2
chr11	124124243	124124243	G	A	exonic	VWA5A	.	nonsynonymous SNV	VWA5A:NM_014622:exon10:c.G1171A:p.V391I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.329	B	0.361	B	0.000	N	1.000	D	0.435	N	3.3	T	-0.883	T	0.015	T	0.35	2.584	14.60	2.61	0.715	1.459	9.383	0.046	0.00990407176567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.25154	T	0.357	0.17910	T	0.329	0.33227	B	0.361	0.43233	B	0.000194	0.48115	N	0.181797	0.963696	0.81001	D	1.42	0.35681	L	3.3	0.06368	T	-0.66	0.19720	N	0.291	0.37301	-0.8830	0.49521	T	0.015	0.05994	T	10	0.108765215	0.20260	T	0.009904	0.25788	T	0.046	0.12618	0.478	0.55663	0.0138822411134	0.00435	0.04053202408620028	0.03999	0.0351742597485	0.03706	0.322875797749	0.13856	T	0.003542	0.07968	T	-0.182407	0.23378	T	-0.499791	0.22369	T	0.302465289831161	0.25105	T	0.819518	0.47762	T	0.018080682	0.00330	0.04089179	0.04523	0.018080682	0.00330	0.04089179	0.04522	-5.621	0.42984	T	.	.	0.075	0.14062	B	.;.;.;.;.	.;.;.;.;.	2.012951	0.25578	16.81	0.98826696458155405	0.46886	0.81488	0.40881	D	AEFBCI	0.138461	0.25976	N	-0.284136760244121	0.29761	1.653285	-0.136057321502458	0.33949	1.947467	0.978198650544519	0.29896	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	2.61	0.30255	1.321000	0.33283	.	.	-0.123000	0.13640	1.000000	0.71638	0.993000	0.31925	0.960000	0.51673	0.0762:0.2702:0.6536:0.0	9.383	0.37485	768	0.49510	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;von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.02381	1312.98	35	chr11	124124243	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e+00;DP=796;ExcessHet=0.0000;FS=3.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.159e+00;SOR=0.432	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1327,0,1125	20	0	1	0
chr11	128972571	128972571	C	T	exonic	ARHGAP32	.	nonsynonymous SNV	ARHGAP32:NM_014715:exon12:c.G2846A:p.R949H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.754	P	0.000	D	1.000	D	2.075	M	2.95	T	-1.008	T	0.056	T	0.406	3.892	19.78	5.56	2.633	1.124	12.074	0.086	0.00861612622329	0.0004	.	0.0002	0	0	0.0002	0	0.0002	0	0.0002	0.0001229	19	154602	rs148138101	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	7.106e-05	6.595e-05	0	6.825e-05	0.0028	7.584e-05	0	0.0004	8.524e-05	0.0003	9.679e-05	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	2.408e-05	0	0.0001	0.0032	0.0017	0	0	0.0002	0.0009	0	0.001	0.78490	D	0.165	0.31936	T	0.994	0.66517	D	0.754	0.56161	P	0.000156	0.49130	D	0.143957	0.618123	0.81001	D	2.135	0.59519	M	2.95	0.09635	T	-1.05	0.27463	N	0.202	0.29081	-1.0083	0.27448	T	0.056	0.23677	T	10	0.01007238	0.00225	T	0.008616	0.22779	T	0.086	0.25016	.	.	0.15499578495	0.15088	0.41525562909624586	0.41441	0.153038685903	0.17271	0.404854297638	0.25743	T	0.163044	0.50795	T	-0.355182	0.04410	T	-0.403032	0.33033	T	0.0764322876930237	0.09524	T	0.787021	0.42574	T	0.13356152	0.31062	0.07738965	0.17236	0.13356152	0.31062	0.07738965	0.17236	-5.326	0.41340	T	.	.	0.083	0.12938	B	.;.;.	.;.;.	3.364917	0.46475	22.3	0.99950261409443564	0.99938	0.80047	0.39791	D	AEFBI	0.144696	0.26772	N	0.478820445082821	0.65855	4.875218	0.447226568980596	0.64537	4.711343	0.994376031605056	0.33608	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.56	5.56	0.83678	1.159000	0.31360	3.376000	0.37968	0.599000	0.40250	0.755000	0.29187	0.998000	0.33993	0.715000	0.34611	0.0:0.9211:0.0:0.0789	12.074	0.52928	557	0.71576	.;.;.	.	.	.	.	.	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	0.02381	1029.98	34	chr11	128972571	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=771;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.246;SOR=0.509	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1044,0,999	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,26,0:26:78:1109,78,0,1109,78,1109	3	7	5	0
chr11	134359968	134359968	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370460:exon8:c.G842A:p.R281H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013960059	0	3.181e-06	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	63.78	5	chr11	134359968	.	G	A	63.78	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.00;DP=74;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0550;MLEAC=2;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.26;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:73,0,32	13	0	1	7
chr12	908664	908664	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon26:c.G6277A:p.G2093S	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	318634	not_provided|Inborn_genetic_diseases|Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.18	B	0.046	B	0.002	N	1.000	N	0.585	N	1.09	T	-0.858	T	0.182	T	0.279	2.176	13.23	4.27	2.730	3.284	13.287	0.053	0.0205494850597	0.0007	0.000199681	0.0004	0	0.0006	0	0	0.0006	0.0011	0.0002	0.0004722	73	154602	rs146042595	0.0008	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	0.0001	0.0007	0	0	0	0.0005	0.0009	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0009	0	0	0	0	0.0010	0	0	0.285	0.18956	T	1.0	0.12421	T	0.17	0.29046	B	0.046	0.24676	B	0.001864	0.37789	N	0.120660	0.831661	0.28977	N	1.7	0.43825	L	-0.48	0.70249	T	-1.45	0.49684	N	0.243	0.27435	-0.8579	0.51413	T	0.182	0.53026	T	10	0.025352627	0.00732	T	0.020549	0.43168	T	0.053	0.14996	.	.	0.282416095408	0.27849	0.4889766587300523	0.48817	0.161159105999	0.18189	0.417471408844	0.27489	T	0.062903	0.55673	T	-0.365744	0.03815	T	-0.32277	0.42270	T	0.020604898229857	0.00760	T	0.914409	0.71352	D	0.08034131	0.18403	0.12267641	0.29588	0.08807615	0.20533	0.12882221	0.30986	-3.202	0.12505	T	.	.	0.065	0.02960	B	.;.;.;.;.	.;.;.;.;.	2.918103	0.38732	20.8	0.95998577639250826	0.28408	0.88554	0.48536	D	AEFDGBCI	0.345950	0.44093	N	-0.0881248703568793	0.37913	2.212654	0.0953532710927191	0.44313	2.715592	0.999995737175839	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	4.27	0.50009	3.384000	0.52216	4.962000	0.46347	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1281:0.0:0.8719:0.0	13.287	0.59683	508	0.75398	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2955.98	35	chr12	908664	.	G	A	2955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.472;SOR=0.734	GT:AD:DP:GQ:PL	0/1:90,108:198:99:2970,0,2334	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,17:46:58:.:.:58,0,566	3	0	18	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,9,66,0,0:75:99:2863,2475,2526,362,0,152,2858,2521,360,2885,2858,2521,360,2885,2885	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,9,66,0,0:75:99:2863,2475,2526,362,0,152,2858,2521,360,2885,2858,2521,360,2885,2885	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,9,66,0,0:75:99:2863,2475,2526,362,0,152,2858,2521,360,2885,2858,2521,360,2885,2885	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,9,66,0,0:75:99:2863,2475,2526,362,0,152,2858,2521,360,2885,2858,2521,360,2885,2885	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	6/6:0,0,0,0,0,0,77:77:99:.:.:3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,234,234,234,234,234,234,0	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	6/6:0,0,0,0,0,0,77:77:99:.:.:3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,234,234,234,234,234,234,0	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	6/6:0,0,0,0,0,0,77:77:99:.:.:3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,234,234,234,234,234,234,0	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	6/6:0,0,0,0,0,0,77:77:99:.:.:3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,234,234,234,234,234,234,0	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	6/6:0,0,0,0,0,0,77:77:99:.:.:3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,3395,234,234,234,234,234,234,0	1	0	2	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.188	B	0.299	B	0.007	N	0.932	N	1.935	M	2.2	T	-1.024	T	0.058	T	0.331	0.334	5.809	0.681	0.008	-0.001	6.253	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	188.24	45	chr12	10450556	.	G	A	188.24	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.015e+00;DP=1153;ExcessHet=0.6776;FS=365.008;InbreedingCoeff=-0.1621;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.14;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,20:58:75:.:.:75,0,442	14	0	4	3
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:132,25,0:157:99:345,0,4092,742,4166,4908	4	3	11	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,186,0:190:99:.:.:5974,497,0,6320,586,7464	2	8	6	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	1/1:2,32:62:99:10602,1019,0	4	3	2	12
chr12	11752481	11752481	G	A	exonic	ETV6	.	nonsynonymous SNV	ETV6:NM_001987:exon2:c.G65A:p.S22N,	Leukemia, acute myeloid, somatic;Thrombocytopenia 5, Autosomal dominant	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.023	B	0.01	B	0.000	D	0.998	D	0.55	N	3.12	T	-1.002	T	0.021	T	0.217	2.825	15.41	5.73	2.708	6.746	19.494	0.061	0.0107655029751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300012416	1.505e-05	1.505e-05	1.634e-05	1.375e-05	2.319e-05	9.85e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.26	0.23029	T	0.023	0.18885	B	0.01	0.14941	B	0.000008	0.62929	D	0.143629	0.99815	0.44569	D	1.01	0.25309	L	3.12	0.08106	T	-1.12	0.28906	N	0.676	0.68342	-1.0024	0.29226	T	0.021	0.08732	T	10	0.35166794	0.52012	T	0.010766	0.27684	T	0.061	0.17616	0.243	0.17677	0.286597616719	0.28274	0.45043701413896897	0.44961	0.297816076613	0.32164	0.730234026909	0.71540	T	0.398266	0.75641	T	-0.222163	0.17700	T	-0.541412	0.18158	T	0.363117247819901	0.27531	T	0.838016	0.51077	T	0.37152702	0.58697	0.17770234	0.40389	0.37152702	0.58698	0.17770234	0.40389	-8.477	0.64277	D	.	.	0.258	0.49275	B	.	.	3.714881	0.53052	23.3	0.99123216391727242	0.53037	0.96199	0.67990	D	AEFDGBI	0.742291	0.68596	D	0.0696564082688001	0.45052	2.768241	0.294359754106588	0.55207	3.684187	0.999999999987762	0.74766	0.75658	0.98901	0	0.601644	0.50151	0	0.858454	0.99976	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.230000	0.77568	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.494	0.95058	982	0.03397	.	.	.	.	.	.	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	0.02381	1985.98	34	chr12	11752481	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=852;ExcessHet=0.0000;FS=2.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-5.440e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:73,85:158:99:2000,0,1653	20	0	1	0
chr12	16357690	16357690	G	A	exonic	MGST1	.	nonsynonymous SNV	MGST1:NM_001260511:exon3:c.G212A:p.R71H	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.42	M	-0.19	T	0.199	D	0.514	D	0.723	3.966	20.3	4.33	1.442	6.002	12.185	0.718	0.213412838809	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1485216528	6.848e-06	6.84e-06	8.177e-06	5.506e-06	4.492e-05	3.46e-06	2.53e-06	7.45e-06	2.79e-06	0	4.492e-05	0	0	0	0	4.5e-06	3.315e-05	1.165e-05	6.571e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	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	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	3.59	0.93643	H	-0.19	0.65931	T	-5.0	0.82341	D	0.919	0.92200	0.199	0.85891	D	0.514	0.81787	D	10	0.9757797	0.97339	D	0.213413	0.87405	D	0.718	0.90011	0.922	0.98638	0.793133036804	0.79121	0.891768041907351	0.89146	0.0784466274496	0.08825	0.699545264244	0.67078	T	0.493436	0.81699	T	0.0766248	0.61644	D	0.0513618	0.73673	D	0.997033596038818	0.90620	D	0.963204	0.95872	D	0.7536673	0.81081	0.5500831	0.73986	0.7536673	0.81083	0.5500831	0.73987	-13.451	0.91135	D	.	.	0.570	0.71043	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.332941	0.89494	30	0.9992832017603146	0.99222	0.95779	0.66118	D	AEFBI	0.942990	0.94824	D	0.659538568994957	0.76986	6.588838	0.572031041018222	0.72940	5.890102	0.999098441968697	0.38425	0.706548	0.73137	0	0.659464	0.62310	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	4.33	0.51083	6.164000	0.71716	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0783:0.0:0.9217:0.0	12.185	0.53545	808	0.43318	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	33	chr12	16357690	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=1.72;SOR=0.703	GT:AD:DP:GQ:PL	0/1:41,37:78:99:795,0,894	20	0	1	0
chr12	21076479	21076479	G	A	exonic	SLCO1B3-SLCO1B7;SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon12:c.G1634A:p.G545E	.	.	32	1481	9	0	0	9	0.00302928	.	.	702273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.775	H	-1.45	T	0.256	D	0.549	D	0.757	2.315	13.70	2.4	1.322	6.645	9.944	0.789	.	0.0052	0.00698882	0.0077	0.0018	0.0410	0	0.0018	0.0060	0.0077	0.0015	0.0077554	1199	154602	rs188817665	0.0064	0.0066	0.0066	0.0062	0.0310	0.0063	0.0063	0.0295	0.0289	0.0014	0.0310	0.0078	0	0.0019	0.0019	0.0065	0.0060	0.0020	0.0064	0.0064	0.0060	0.0068	0.0258	0.0061	0.0059	0.0237	0.0228	0.0023	0.0143	0.0258	0.0078	0	0.0009	0	0.0060	0.0076	0.0021	0.03	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.869619	0.45735	D	3.85	0.95769	H	-2.14	0.86415	D	-0.64	0.94899	N	0.704	0.96871	0.256	0.86846	D	0.549	0.83446	D	10	0.009755582	0.00219	T	.	.	.	0.789	0.93028	.	.	0.604448947905	0.60128	0.9051016532319668	0.90483	0.0452562153053	0.04904	.	.	.	0.163783	0.50898	T	-0.0603123	0.42858	T	0.164274	0.81067	D	0.0827487367248945	0.10336	T	0.974702	0.91007	D	0.91133803	0.92419	0.8700772	0.92871	0.91133803	0.92420	0.8700772	0.92872	-10.744	0.78235	D	.	.	0.926	0.84672	P	.;.;.	.;.;.	2.190415	0.27925	17.63	0.99591604138847056	0.73631	0.91538	0.53740	D	AEFI	0.790312	0.71924	D	0.546453515641824	0.69868	5.418328	0.331642158265549	0.57408	3.906416	0.00122605915382854	0.08353	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	7.360000	0.78747	11.698000	0.94457	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:1.0:0.0	9.944	0.40767	923	0.18507	.;.;Major facilitator superfamily 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	0.04762	1719.11	37	chr12	21076479	.	G	A	1719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.382;DP=892;ExcessHet=0.1072;FS=0.506;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.85;ReadPosRankSum=-1.059e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:61,28:89:99:493,0,1413	19	0	2	0
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E,	.	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	B	0.073	B	0.044	N	0.996	N	1.645	L	1.95	T	-1.052	T	0.040	T	0.198	3.048	16.17	2.89	0.950	1.092	8.287	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	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	0.02381	1957.98	71	chr12	31984133	.	A	G	1957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.014;DP=1809;ExcessHet=0.0000;FS=4.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-2.600e-02;SOR=1.037	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1972,0,2452	20	0	1	0
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,926,0:926:99:30614,2778,0,32211,2838,36615	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:1,919,0:920:99:30855,2734,0,31462,2792,34982	4	9	7	0
chr12	40484730	40484730	T	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549013865	3.843e-05	2.738e-05	4.911e-05	2.6e-05	0.0016	2.781e-05	2.379e-05	0.0012	0.0010	0	0	0	0	0	0.0006	2.627e-06	7.329e-05	0.0016	5.26e-05	5.252e-05	2.573e-05	8.067e-05	0.0017	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025	11938.33	1131	chr12	40484730	.	T	C	11938.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.793e+00;DP=18780;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.45;SOR=0.691	GT:AD:DP:GQ:PL	0/1:471,460:931:99:11952,0,17927	19	0	1	1
chr12	40486382	40486382	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	535	985	2	0	0	2	0.0010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs12818645	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0028	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0007	0.0012	0	0.0009	0	0	0.0005	0	9.407e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	1950.09	663	chr12	40486382	.	G	A	1950.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.23;DP=19353;ExcessHet=0.3300;FS=26.737;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.58;MQRankSum=-3.039e+01;QD=0.68;ReadPosRankSum=-7.238e+00;SOR=4.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:861,65:926:99:0|1:40486382_G_A:138,0,35826:40486382	10	0	3	8
chr12	40486392	40486392	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	983	3	0	0	3	0.00152362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs1449620235	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0036	0.0007	0.0010	0.0018	0.0007	0.0006	0.0011	0.0010	0.0015	0	0.0018	0.0015	0	0.0012	0	0.0002	0.0012	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	4295.09	663	chr12	40486392	.	G	A	4295.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=8.61;DP=19792;ExcessHet=0.3300;FS=37.643;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.24;MQRankSum=-3.023e+01;QD=1.50;ReadPosRankSum=-5.598e+00;SOR=4.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:797,80:877:99:0|1:40486382_G_A:960,0,33225:40486382	10	0	3	8
chr12	40486395	40486395	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	982	3	0	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1172464658	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0038	0.0009	0.0012	0.0019	0.0009	0.0008	0.0013	0.0012	0.0018	0	0.0019	0.0016	0	0.0017	0	0.0003	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	5288.15	663	chr12	40486395	.	C	G	5288.15	.	AC=3;AF=0.115;AN=26;BaseQRankSum=6.92;DP=20196;ExcessHet=0.3300;FS=37.606;InbreedingCoeff=-0.2011;MLEAC=4;MLEAF=0.154;MQ=58.09;MQRankSum=-3.008e+01;QD=1.84;ReadPosRankSum=-4.739e+00;SOR=4.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:784,91:875:99:0|1:40486382_G_A:1461,0,32646:40486382	10	0	3	8
chr12	40486396	40486396	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	982	1	0	3	4	0.000508906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1212954565	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0036	0.0009	0.0012	0.0018	0.0008	0.0007	0.0013	0.0011	0.0017	0	0.0018	0.0015	0	0.0015	0	0.0003	0.0011	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	5934.02	663	chr12	40486396	.	A	T	5934.02	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.09;DP=20207;ExcessHet=0.3300;FS=33.389;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=57.99;MQRankSum=-3.010e+01;QD=2.07;ReadPosRankSum=-4.404e+00;SOR=3.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:776,94:918:99:0|1:40486382_G_A:1611,0,32301:40486382	10	0	3	8
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:732,110,0:842:99:0|1:40486382_G_A:2415,0,30405,4619,30737,35355:40486382	4	0	4	12
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1579	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:949,73:1022:35:.:.:35,0,27876	13	0	6	2
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:950,0,0,0:950:40:.:.:2347,0,39517,40,39502,39515,2807,39872,39891,42306	4	0	6	1
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	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:950,0,0,0:950:40:.:.:2347,0,39517,40,39502,39515,2807,39872,39891,42306	4	0	6	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:927,0,0:927:38:.:.:1755,0,37900,38,37930,37961	3	0	6	3
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,457,0,0:458:99:1|1:40488224_A_G:18325,1366,0,18327,1373,18334,18327,1373,18334,18334:40488224	3	6	5	3
chr12	41069988	41069988	G	A	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon22:c.G2977A:p.G993S	.	.	2	1519	1	0	0	1	0.000329056	.	.	839903	Compton-North_congenital_myopathy	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.998	D	0.796	P	0.011	N	1.000	D	0.525	N	0.35	T	-0.980	T	0.143	T	0.142	0.852	8.446	4.68	1.476	2.913	13.883	0.146	0.0193601934698	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs745975456	1.3e-05	1.3e-05	5.445e-06	2.063e-05	0.0001	8.31e-06	6.7e-06	5.395e-05	4.042e-05	5.974e-05	6.708e-05	0	0	0	0	4.497e-06	0	0.0001	6.58e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.375	0.11370	T	0.634	0.07105	T	0.997	0.73220	D	0.63	0.58006	P	0.011115	0.29657	N	0.366113	0.770321	0.45795	D	0.68	0.16426	N	0.35	0.58176	T	0.19	0.04947	N	0.128	0.12913	-0.9796	0.35094	T	0.143	0.46514	T	10	0.24622169	0.41883	T	0.01936	0.41701	T	0.146	0.38789	0.415	0.45380	0.541642161911	0.53816	0.5470978467527887	0.54635	0.305927689878	0.32891	0.310824811459	0.12032	T	0.274107	0.64658	T	-0.295519	0.09089	T	-0.480741	0.24368	T	0.279087632894516	0.24133	T	0.676232	0.28483	T	0.03985836	0.05583	0.06083173	0.11650	0.03985836	0.05582	0.06083173	0.11650	-1.489	0.01744	T	.	.	0.171	0.39697	B	.;.;.	.;.;.	2.153336	0.27432	17.46	0.65532721914266923	0.07799	0.88525	0.48493	D	AEFI	0.333199	0.43237	N	0.0420607821141907	0.43778	2.66412	0.0814661202258425	0.43616	2.659783	0.005049030778697	0.10808	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.58	4.68	0.58319	2.652000	0.46347	2.557000	0.33294	0.618000	0.50648	0.997000	0.40164	0.996000	0.32793	0.880000	0.42090	0.0747:0.0:0.9253:0.0	13.883	0.63192	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2174.98	39	chr12	41069988	.	G	A	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.569;DP=903;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-7.380e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:101,92:193:99:2189,0,2396	20	0	1	0
chr12	47789823	47789823	C	T	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001098416:exon16:c.G1970A:p.R657H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.768	P	0.000	D	1.000	D	1.295	L	-0.49	T	-0.710	T	0.279	T	0.476	4.807	27.2	5.44	2.737	6.090	18.274	0.105	0.0309904289614	0.0003	.	0.0002	0	0	0	0.0003	0.0002	0	6.063e-05	0.0001294	20	154602	rs200899015	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	9.206e-05	8.615e-05	0	2.236e-05	0.0023	0	0.0002	0.0002	0.0001	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0.0014	0	0.0002	0	0.0003	0.0005	0	0.006	0.68238	D	0.007	0.69154	D	0.997	0.73220	D	0.625	0.56752	P	0.000001	0.84330	D	0.053061	0.999999	0.58761	D	1.27	0.32069	L	-0.49	0.70365	T	-1.66	0.41618	N	0.32	0.37405	-0.7103	0.59937	T	0.279	0.65099	T	10	0.054855883	0.05904	T	0.03099	0.53176	D	0.357	0.67782	.	.	0.556605298633	0.55320	0.7885768057275826	0.78809	1.61834407415	0.89032	0.635295987129	0.57895	T	0.309725	0.68173	T	-0.236607	0.15786	T	-0.186759	0.55893	T	0.112326038933547	0.13663	T	0.959604	0.84889	D	0.5569782	0.70343	0.36651635	0.61979	0.5569782	0.70344	0.36651635	0.61979	-8.979	0.67562	D	.	.	0.108	0.20469	B	.;.;.;.;.	.;.;.;.;.	4.569288	0.72080	25.8	0.99939399527481831	0.99734	0.98319	0.81588	D	AEFDGBCI	0.800770	0.72666	D	0.381848852457408	0.60438	4.232766	0.471086893626417	0.66082	4.905983	0.999999999999942	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	5.44	0.79348	6.172000	0.71841	1.832000	0.29123	0.599000	0.40250	0.819000	0.29975	0.842000	0.27309	0.980000	0.58198	0.0:1.0:0.0:0.0	18.274	0.90017	889	0.27310	.;.;.;Histone deacetylase domain;Histone deacetylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2125.98	35	chr12	47789823	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=923;ExcessHet=0.0000;FS=1.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.107e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2140,0,2333	20	0	1	0
chr12	52645240	52645240	C	T	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon9:c.G1699A:p.G567S,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	870126	Ichthyosis_bullosa_of_Siemens	MONDO:MONDO:0007813,MedGen:C0432306,OMIM:146800,Orphanet:455	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.79	T	0.572	P	0.035	B	.	.	0.820	D	0	N	-5.81	D	0.805	D	0.806	D	0.29	2.203	13.32	3.4	0.940	0.975	8.225	0.368	0.0750189748672	7.7e-05	.	8.238e-05	0.0002	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs199836359	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0001	1.237e-05	1.051e-05	5.85e-05	3.758e-05	0.0001	0	0	0	3.744e-05	0	1.439e-05	1.656e-05	2.319e-05	9.855e-05	9.843e-05	7.714e-05	0.0001	0.0003	6.006e-05	4.879e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.364	0.16766	T	0.572	0.38625	P	0.035	0.22741	B	.	.	.	.	0.819852	0.34760	D	0.615	0.15706	N	-5.81	0.99381	D	-0.08	0.08187	N	0.266	0.30118	0.805	0.94469	D	0.806	0.93446	D	9	0.08488718	0.14273	T	0.075019	0.72186	D	0.368	0.68757	.	.	0.757340443705	0.75513	0.42909890640634857	0.42826	0.0847276726934	0.09572	0.477954089642	0.35774	T	0.018808	0.15099	T	-0.161137	0.26586	T	-0.189803	0.55608	T	0.0332640809784407	0.02515	T	0.30237	0.05722	T	0.023708614	0.01135	0.05282947	0.08782	0.023708614	0.01135	0.05282947	0.08781	-4.87	0.35396	T	.	.	0.078	0.07036	B	.	.	0.844988	0.12171	8.717	0.95379549763547755	0.26802	0.25789	0.22803	N	AEFDBI	0.284123	0.39707	N	-0.759895923569839	0.14365	0.7150247	-0.729628152197754	0.16224	0.857281	0.999971069084143	0.50053	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.29	3.4	0.38031	-0.085000	0.11215	.	.	-0.806000	0.03109	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.8855:0.0:0.1145	8.225	0.30722	824	0.40336	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	6161.98	34	chr12	52645240	.	C	T	6161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=1172;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.010e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:224,246:470:99:6176,0,5321	20	0	1	0
chr12	52645409	52645411	TGA	-	exonic	KRT2	.	nonframeshift deletion	KRT2:NM_000423:exon9:c.1528_1530del:p.S510del,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4705.94	42	chr12	52645408	.	TTGA	T	4705.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=976;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.60;ReadPosRankSum=-8.500e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/1:131,122:253:99:4720,0,5117	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,20,0:82:99:0|1:52949314_C_T:651,0,2485,838,2545,3383:52949314	0	0	20	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:11,20,2:33:99:454,0,218,491,208,887	11	0	9	0
chr12	55958556	55958556	G	C	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon2:c.C128G:p.A43G	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.007	B	0.006	B	0.862	N	0.988	N	1.39	L	3.1	T	-1.020	T	0.100	T	0.204	1.027	9.195	2.42	0.537	0.428	7.195	0.018	0.00731328894856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181457650	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	4.637e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.635	0.39334	T	1.0	0.26226	T	0.007	0.14184	B	0.006	0.12133	B	0.861695	0.08890	N	0.928689	0.988476	0.24406	N	1.145	0.29067	L	3.08	0.31205	T	0.51	0.05503	N	0.259	0.29313	-1.0199	0.23747	T	0.100	0.37111	T	10	0.08825925	0.15179	T	0.007313	0.19388	T	0.022	0.04323	0.361	0.36548	0.168933306366	0.16529	0.2427703377315906	0.24191	0.124031979844	0.13968	0.249004453421	0.03663	T	0.201521	0.55942	T	-0.29951	0.08706	T	-0.571148	0.15343	T	0.0269314907491207	0.01535	T	0.687331	0.31558	T	0.02406896	0.01203	0.026415486	0.00730	0.02406896	0.01203	0.026415486	0.00730	-4.694	0.33331	T	.	.	0.092	0.23005	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.391356	0.07630	4.294	0.93924572792999983	0.23968	0.09288	0.15074	N	AEFBI	0.227403	0.35121	N	-0.277765492345397	0.30008	1.669338	-0.321258210852704	0.27413	1.520949	0.223343310385347	0.18381	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.616125	0.45549	0	.	.	4.31	2.42	0.28720	0.048000	0.13962	.	.	-0.153000	0.12021	0.000000	0.06391	0.699000	0.26222	0.173000	0.21076	0.0:0.3309:0.3901:0.2791	7.195	0.25023	724	0.55085	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	823.98	38	chr12	55958556	.	G	C	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.777e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,34:69:99:838,0,809	20	0	1	0
chr12	56952878	56952878	G	A	exonic	RDH16	.	nonsynonymous SNV	RDH16:NM_001320108:exon2:c.C250T:p.R84W	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.358	B	0.05	B	0.914	N	1.000	N	1.76	L	-3.18	D	-0.158	T	0.676	D	0.194	1.871	12.22	0.996	0.307	-0.570	7.500	0.154	0.0321018553652	0.0002	.	0.0002	0.0001	0	0	0	0.0003	0	0	0.0001423	22	154602	rs377404302	9.851e-05	9.85e-05	9.801e-05	9.901e-05	0.0001	8.511e-05	7.982e-05	0.0001	9.742e-05	2.987e-05	2.236e-05	0	0	1.872e-05	0	0.0001	9.936e-05	1.16e-05	7.89e-05	7.881e-05	7.712e-05	8.077e-05	0.0001	4.5e-05	3.514e-05	4.765e-05	3.339e-05	9.661e-05	0	0	0	0	9.436e-05	0	0.0001	0	0	0.019	0.50132	D	0.015	0.61642	D	0.358	0.33818	B	0.05	0.25278	B	0.914041	0.07433	N	1.046710	1	0.08975	N	2.495	0.72670	M	-3.18	0.93111	D	-4.2	0.75695	D	0.167	0.17691	-0.1576	0.78730	T	0.676	0.88785	D	10	0.11779037	0.22254	T	0.032102	0.54014	D	0.154	0.40340	.	.	0.503063991398	0.49945	0.4158062776802957	0.41496	0.102693065274	0.11620	0.182508260012	0.00119	T	0.327417	0.69793	T	-0.197828	0.21119	T	-0.242507	0.50553	T	0.124684862792492	0.14882	T	0.30207	0.05709	T	0.093017526	0.21837	0.13416284	0.32155	0.093017526	0.21836	0.13416284	0.32154	-6.21	0.48004	T	.	.	0.272	0.50563	B	.	.	2.169005	0.27642	17.53	0.97726613594556755	0.35591	0.19257	0.20590	N	AEFBI	0.575586	0.57792	D	-0.694107649700698	0.16188	0.8225668	-0.770994270563248	0.15207	0.798643	0.275106232036161	0.18932	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.17	0.996	0.18963	-0.185000	0.09679	-0.914000	0.06944	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0806:0.0:0.3752:0.5443	7.500	0.26680	469	0.78175	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1627.98	33	chr12	56952878	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=849;ExcessHet=0.0000;FS=6.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-7.640e-01;SOR=1.197	GT:AD:DP:GQ:PL	0/1:78,61:139:99:1642,0,1888	20	0	1	0
chr12	57037582	57037582	C	T	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon19:c.G2021A:p.G674D	.	.	1	1508	12	1	0	14	0.00462046	.	.	228209	Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.58	H	-5.07	D	1.016	D	0.984	D	0.989	4.760	26.7	4.96	2.322	5.580	13.705	0.976	0.432915614909	0.0002	.	0.0005	9.754e-05	0.0010	0	0	0.0007	0.0011	0.0002	0.0004657	72	154602	rs148808080	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0019	0.0015	0.0002	0.0014	0.0055	0	1.872e-05	0.0029	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0013	0.0004	0.0004	0.0009	0.0007	0.0002	0	0.0013	0.0046	0	0	0.0034	0.0004	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.155	0.97600	H	-5.07	0.98648	D	-6.82	0.92980	D	0.787	0.78356	1.016	0.97455	D	0.984	0.99505	D	10	0.31688666	0.49104	T	0.432916	0.94017	D	0.976	0.99783	.	.	0.985288132568	0.98513	0.8676491767276238	0.86729	0.519325346913	0.49757	0.702072679996	0.67443	T	0.860453	0.96899	D	0.262072	0.79719	D	0.563138	0.95988	D	0.215399846460493	0.21232	T	0.884712	0.60854	D	0.90506554	0.91840	0.9547742	0.98681	0.90506554	0.91841	0.9547742	0.98681	-16.597	0.98526	D	.	.	0.987	0.92791	P	.;.	.;.	4.879209	0.80008	27.2	0.99851493737844987	0.93102	0.90256	0.51289	D	AEFDBCI	0.858398	0.77591	D	0.99006308134703	0.95430	13.61283	0.857070259153314	0.93423	12.03226	0.999999999928499	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	5.690000	0.67904	6.010000	0.52630	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	13.705	0.62115	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;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	0	0	0	0	0	0	0	0	0	1	0	0.04762	3790.11	33	chr12	57037582	.	C	T	3790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.920e-01;DP=950;ExcessHet=0.1072;FS=1.384;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.639;SOR=0.635	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1470,0,1690	19	0	2	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	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	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:29,9:38:6:6,0,594	15	0	6	0
chr12	69258588	69258588	A	C	splicing	CPSF6	NM_007007:exon6:c.695-2A>C;NM_001300947:exon7:c.806-2A>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.223	13.39	5.53	2.237	6.524	15.986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132532	0.67608	D	-0.0474037	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.546865	0.95383	35	0.9925658129461985	0.57055	0.99559	0.97436	D	AEFBI	.	.	.	1.06827620712339	0.97500	16.23617	0.91311047384188	0.96119	14.32376	0.994028231221017	0.33455	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.221052	0.04502	0	0.962768	0.66769	5.53	5.53	0.82530	6.517000	0.73669	11.130000	0.86775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.986	0.79947	878	0.29785	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	63.1	36	chr12	69258588	.	A	C	63.1	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-8.650e-01;DP=946;ExcessHet=0.1072;FS=49.726;InbreedingCoeff=-0.2449;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=2.53;SOR=5.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,10:49:41:.:.:41,0,944	7	0	2	12
chr12	76389653	76389653	G	C	exonic	OSBPL8	.	nonsynonymous SNV	OSBPL8:NM_001319655:exon9:c.C1269G:p.F423L	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.012	B	0.000	D	1.000	D	-1.77	N	2.12	T	-0.988	T	0.013	T	0.737	0.829	8.341	5.02	1.511	3.256	12.948	0.179	0.013807415709	.	.	0.0002	0	8.663e-05	0	0	0.0002	0	0.0005	0.0001294	20	154602	rs747923909	5.657e-05	5.883e-05	3.368e-05	7.983e-05	0.0005	4.627e-05	4.287e-05	0.0004	0.0003	0	0.0001	0	0	0	0.0005	2.479e-05	0.0001	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.745	0.00325	N	2.12	0.19726	T	1.76	0.00537	N	0.411	0.45520	-0.9880	0.33102	T	0.013	0.05033	T	10	0.08488247	0.14273	T	0.013807	0.33491	T	0.179	0.44899	0.54	0.65161	0.492909346147	0.48925	0.7459341502733289	0.74539	0.435919991296	0.43696	0.904340982437	0.96906	D	0.02473	0.18628	T	-0.223672	0.17494	T	-0.258742	0.48951	T	0.0531317368347167	0.06042	T	0.929807	0.74042	D	0.18143411	0.39313	0.11810043	0.28508	0.18143411	0.39312	0.11810043	0.28508	0.079	0.00322	T	.	.	0.683	0.72270	P	.;.;.;.;.;.	.;.;.;.;.;.	2.961681	0.39448	21.0	0.77134082044541274	0.11750	0.96644	0.70182	D	AEFBI	0.464314	0.51287	N	-0.584957624069606	0.19400	1.015079	-0.258520579225593	0.29479	1.651887	0.994323254691569	0.33586	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	2.798000	0.47578	6.600000	0.56053	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1341:0.0:0.8659:0.0	12.948	0.57782	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	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	0.07143	2122.66	33	chr12	76389653	.	G	C	2122.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.600e-02;DP=758;ExcessHet=0.0000;FS=2.055;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.44;ReadPosRankSum=-3.920e-01;SOR=0.470	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1189,120,0	19	1	1	0
chr12	85055925	85055925	C	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.C1132G:p.L378V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.024	B	0.012	B	0.849	N	1.000	N	1.15	L	0.64	T	-0.996	T	0.090	T	0.102	-1.679	0.012	0.622	0.116	0.386	5.088	0.008	0.00642875802449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997381150	1.72e-05	1.71e-05	2.053e-05	1.384e-05	0.0004	1.181e-05	9.98e-06	6.214e-05	2.566e-05	0	0	0	0	0	0.0004	1.894e-05	0	2.392e-05	1.318e-05	1.313e-05	0	2.696e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0.0034	0	0	0	0.301	0.14449	T	0.277	0.21880	T	0.011	0.15914	B	0.011	0.15521	B	0.848950	0.08977	N	0.917841	0.999998	0.08975	N	1.935	0.51832	L	0.64	0.52867	T	-0.88	0.23808	N	0.067	0.03956	-0.9955	0.31164	T	0.090	0.34655	T	10	0.052263796	0.05232	T	0.006429	0.16927	T	0.008	0.00669	0.24	0.17218	0.32082282376	0.31691	0.05481815032257409	0.05422	0.0121123823965	0.01151	0.2789029181	0.07340	T	0.003671	0.03081	T	-0.278528	0.10823	T	-0.637863	0.09826	T	0.0201156869114758	0.00712	T	0.59944	0.22338	T	0.046944126	0.07941	0.034619603	0.02560	0.046944126	0.07941	0.034619603	0.02560	-3.499	0.16417	T	.	.	0.111	0.21578	B	.	.	0.257054	0.06360	2.821	0.11481571656065934	0.00174	0.11933	0.16954	N	AEFBI	0.070372	0.13967	N	-0.885447594290122	0.11188	0.5385758	-0.914186800779856	0.11759	0.6010422	1.46514325930885E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.88	0.622	0.16822	-0.370000	0.07578	-1.460000	0.05389	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1318:0.4964:0.2944:0.0774	5.088	0.14026	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	536.98	40	chr12	85055925	.	C	G	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=847;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=-9.150e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/1:47,27:74:99:551,0,1213	20	0	1	0
chr12	98613721	98613721	C	T	exonic	IKBIP	.	nonsynonymous SNV	IKBIP:NM_201612:exon3:c.G917A:p.G306E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	1.0	D	.	.	1.000	D	1.845	L	0.47	T	-0.216	T	0.496	T	0.973	4.148	21.4	5.52	2.593	6.098	19.441	0.498	0.127796251818	7.7e-05	.	8.249e-05	9.654e-05	0	0	0	0.0001	0	6.069e-05	9.06e-05	14	154602	rs370097489	9.861e-05	9.987e-05	8.448e-05	0.0001	0.0021	8.52e-05	7.99e-05	0.0012	0.0009	0.0004	4.497e-05	0.0002	0	0	0.0021	8.368e-05	0.0001	0.0001	9.853e-05	9.844e-05	0.0001	9.405e-05	0.0001	6.005e-05	4.878e-05	6.272e-05	4.292e-05	0.0001	0	0	0	0	0	0.0034	0.0001	0	0	0.054	0.38633	T	0.152	0.32249	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.998437	0.81001	D	2.175	0.60977	M	0.47	0.56114	T	-2.31	0.51319	N	0.967	0.97750	-0.2156	0.77268	T	0.496	0.80888	T	9	0.8316542	0.82327	D	0.127796	0.80965	D	0.498	0.78226	.	.	0.675944014053	0.67319	.	.	.	.	.	.	.	0.256926	0.62789	T	0.125785	0.66949	D	0.179573	0.81972	D	0.170278623700142	0.18599	T	0.79912	0.44420	T	0.3035795	0.53224	0.39920497	0.64490	0.3035795	0.53224	0.39920497	0.64490	-2.893	0.09074	T	.	.	0.594	0.68615	P	.	.	4.577702	0.72282	25.8	0.99757544144789456	0.84772	0.98822	0.87309	D	AEFBI	0.776244	0.70942	D	0.710815502967549	0.80343	7.273013	0.711573430245223	0.83256	7.974704	0.999999998089395	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	6.511000	0.73644	7.571000	0.60712	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.441	0.94812	901	0.24189	.	.	.	.	.	.	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	0.02381	1719.98	33	chr12	98613721	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=1204;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.14;SOR=0.990	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1734,0,2312	20	0	1	0
chr12	102912794	102912794	A	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon2:c.T165G:p.F55L	Phenylketonuria, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	98641	Phenylketonuria|Hyperphenylalaninemia|not_provided|See_cases	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.989	D	0.91	D	0.000	D	1.000	D	1.985	M	-5.64	D	1.054	D	0.962	D	0.831	3.263	16.95	4.33	0.911	3.047	8.93	0.853	0.612631081136	.	.	9.063e-05	0	0.0003	0	0	0.0001	0	0	8.41e-05	13	154602	rs199475598	8.535e-05	8.688e-05	8.911e-05	8.156e-05	0.0008	7.253e-05	6.838e-05	0.0006	0.0005	9.01e-05	0.0008	3.837e-05	0	0	0.0002	6.976e-05	9.981e-05	2.323e-05	0.0002	0.0002	6.422e-05	0.0003	0.0016	0.0001	0.0001	0.0011	0.0010	4.824e-05	0	0.0016	0	0	0	0	4.409e-05	0	0	0.096	0.91255	T	0.12	0.92824	T	0.89	0.48942	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-5.64	0.99249	D	-4.98	0.89029	D	0.863	0.89800	1.054	0.98198	D	0.962	0.98793	D	10	0.8023075	0.79616	D	0.612631	0.96623	D	0.853	0.95470	0.86	0.95774	0.984945034095	0.98478	0.8590593700418251	0.85868	0.224652461298	0.24998	0.615614533424	0.55109	T	0.965695	0.99588	D	0.134391	0.67786	D	0.356888	0.90583	D	0.675697565078735	0.39593	D	0.962254	0.85785	D	0.8440735	0.86901	0.66627944	0.80431	0.8436373	0.86871	0.66973543	0.80625	-8.241	0.62700	D	0.17104940695263118	0.21539	0.917	0.89526	P	.;.;.;.	.;.;.;.	3.647873	0.51758	23.1	0.99440077188276055	0.64720	0.90169	0.51136	D	AEFBI	0.777258	0.71012	D	0.383867446518945	0.60548	4.244872	0.367309881784486	0.59556	4.134594	0.999991428284611	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.369000	0.52092	4.466000	0.43477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.9144:0.0:0.0856:0.0	8.93	0.34824	768	0.49510	ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	34	chr12	102912794	.	A	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.237e+00;DP=850;ExcessHet=0.0000;FS=4.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.213;SOR=1.101	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1305,0,1709	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:21,12,0,0,0:33:99:328,0,742,391,779,1170,391,779,1170,1170,391,779,1170,1170,1170	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:21,12,0,0,0:33:99:328,0,742,391,779,1170,391,779,1170,1170,391,779,1170,1170,1170	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:21,12,0,0,0:33:99:328,0,742,391,779,1170,391,779,1170,1170,391,779,1170,1170,1170	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:21,12,0,0,0:33:99:328,0,742,391,779,1170,391,779,1170,1170,391,779,1170,1170,1170	6	1	11	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:117,0,0,25,0:142:99:.:.:640,994,5889,994,5889,5889,0,4895,4895,4820,994,5889,5889,4895,5889	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:117,0,0,25,0:142:99:.:.:640,994,5889,994,5889,5889,0,4895,4895,4820,994,5889,5889,4895,5889	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:117,0,0,25,0:142:99:.:.:640,994,5889,994,5889,5889,0,4895,4895,4820,994,5889,5889,4895,5889	10	0	6	0
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:48,0,1,0:49:99:.:.:427,327,2266,0,1978,1936,327,2266,1978,2266	11	0	2	0
chr12	111362925	111362925	G	A	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.C503T:p.P168L	.	.	0	225	1	0	0	1	0.00221729	.	.	3467028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.768	P	0.051	B	.	.	1.000	N	0.69	N	1.46	T	-1.041	T	0.085	T	0.119	-1.230	0.059	0.137	0.291	-0.457	6.211	0.023	0.00209994177404	.	0.000199681	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs550615701	8.939e-05	8.961e-05	8.035e-05	9.88e-05	0.0006	7.625e-05	7.135e-05	0.0004	0.0003	0.0006	3.226e-05	4.539e-05	0.0005	0	0	4.817e-05	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.55e-05	0	0.0006	0	0	0	0	0.0002	0.257	0.16738	T	0.391	0.15456	T	0.768	0.43819	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-0.14	0.04484	N	1.45	0.32482	T	-0.92	0.24676	N	0.055	0.03726	-1.0407	0.17101	T	0.085	0.33128	T	9	0.053294957	0.05498	T	0.002	0.03882	T	0.023	0.04649	0.212	0.13066	0.287603790349	0.28378	0.15361265324510434	0.15283	0.440762058902	0.44078	0.564199566841	0.47860	T	0.005022	0.04451	T	-0.51661	0.00460	T	-0.680914	0.06928	T	0.00933630320501859	0.00119	T	0.421758	0.11220	T	0.02326676	0.01052	0.028466888	0.01086	0.02326676	0.01052	0.028466888	0.01086	-6.216	0.48053	T	.	.	0.107	0.20157	B	.;.;.	.;.;.	0.200266	0.05850	2.292	0.21367588606221485	0.00811	0.03152	0.08116	N	AEFDBI	0.084143	0.17052	N	-0.537007177631348	0.20893	1.104794	-0.793506740035509	0.14654	0.7668014	0.999230861903007	0.38840	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	0.137	0.137	0.14085	-0.726000	0.05040	0.103000	0.14675	-0.409000	0.05269	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	3.0E-4:0.0:0.9997:0.0	6.211	0.19841	620	0.66037	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	887.98	33	chr12	111362925	.	G	A	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.774;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-5.250e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/1:17,32:49:99:902,0,387	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,2,44:46:51:1|1:111598949_GGCT_G:2101,1647,1916,162,51,0:111598949	2	0	0	0
chr12	112235221	112235221	G	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.C5801T:p.T1934I,	.	.	428	1091	3	0	0	3	0.001373	.	.	2333223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	0.977	N	0	N	0.81	T	-1.023	T	0.067	T	0.089	2.267	13.54	3.14	0.386	4.744	7.857	0.109	0.00397975833368	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0009	0.0001746	27	154602	rs755513621	0.0001	0.0001	8.304e-05	0.0001	0.0014	9.941e-05	9.35e-05	0.0008	0.0007	0	8.944e-05	0	0	0	0.0014	6.116e-05	8.282e-05	0.0009	5.257e-05	5.254e-05	6.424e-05	4.035e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.88e-05	0	0.0008	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.129	0.12341	-1.0231	0.22704	T	0.067	0.27606	T	9	0.01901552	0.00420	T	0.00398	0.09431	T	0.109	0.30843	.	.	0.043077524339	0.03247	0.33669043152445377	0.33582	0.700501834841	0.61099	0.508578062057	0.40023	T	0.010137	0.09180	T	-0.510996	0.00495	T	-0.563135	0.16083	T	0.0383012663463128	0.03386	T	0.922708	0.71908	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.807980	0.36954	20.4	0.99632948958673906	0.76142	0.88229	0.48064	D	AEFBI	0.236050	0.35855	N	-0.439334377551995	0.24103	1.299117	-0.297636355765225	0.28176	1.568921	0.00123711108384716	0.08362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	3.14	0.35196	4.841000	0.62523	5.149000	0.47746	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.761000	0.36181	0.1428:0.0:0.7263:0.1309	7.857	0.28647	101	0.95833	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1096.98	33	chr12	112235221	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.529e+00;DP=794;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-7.570e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1111,0,1615	20	0	1	0
chr12	112998270	112998270	G	A	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_002535:exon5:c.G868A:p.V290I	.	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.79	P	0.323	B	0.862	U	0.985	N	1.59	L	0.77	T	-1.014	T	0.103	T	0.069	0.068	4.368	-0.104	0.086	0.719	6.109	0.074	0.00697867996318	7.7e-05	0.000798722	0.0006	0	0.0003	0	0	0.0001	0	0.0039	0.0005369	83	154602	rs200414201	0.0003	0.0003	0.0002	0.0005	0.0059	0.0003	0.0003	0.0043	0.0038	0	6.749e-05	0	0	0	0.0059	5.578e-05	0.0007	0.0040	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0034	7.351e-05	0.0005	0.0048	0.024	0.47745	D	0.325	0.31629	T	0.79	0.44599	P	0.323	0.41825	B	0.861645	0.08890	U	0.898107	0.999964	0.18878	N	1.83	0.48079	L	0.77	0.49642	T	-0.08	0.19297	N	0.208	0.23506	-1.0142	0.25593	T	0.103	0.38069	T	10	0.009461015	0.00213	T	0.006979	0.18485	T	0.074	0.21613	.	.	0.163833314356	0.15978	0.08903371763424756	0.08836	0.146539839719	0.16541	0.365369975567	0.20165	T	0.039115	0.25078	T	-0.571457	0.00217	T	-0.594155	0.13307	T	0.0206940150406869	0.00769	T	0.631037	0.28733	T	0.07605688	0.17176	0.056180265	0.09992	0.07605688	0.17176	0.056180265	0.09992	-5.004	0.37886	T	.	.	0.104	0.18869	B	.;.;.;.	.;.;.;.	1.342825	0.17492	13.20	0.84009990996807493	0.15045	0.12794	0.17483	N	AEFBI	0.038875	0.05567	N	-0.870252814964664	0.11555	0.5582519	-0.959881559264031	0.10695	0.5402693	0.990007639850114	0.32006	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	3.82	-0.104	0.12943	1.205000	0.31914	0.344000	0.17410	-0.823000	0.02940	0.642000	0.28102	0.009000	0.19889	0.114000	0.18915	0.4725:0.0:0.5275:0.0	6.109	0.19311	237	0.90758	2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site;.;2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site;2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal|2-5-oligoadenylate synthetase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1003.98	37	chr12	112998270	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.596;SOR=0.829	GT:AD:DP:GQ:PL	0/1:32,35:67:99:1018,0,756	20	0	1	0
chr12	118068526	118068528	TCC	-	exonic	VSIG10	.	nonframeshift deletion	VSIG10:NM_019086:exon8:c.1416_1418del:p.E474del,	.	.	0	151	56	5	14	80	0.179348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16579.07	36	chr12	118068522	.	TTCCTCC	T,TTCC	16579.07	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-4.740e-01;DP=1421;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=6,3;MLEAF=0.143,0.071;MQ=60.00;MQRankSum=0.00;QD=22.40;ReadPosRankSum=0.739;SOR=0.686	GT:AD:DP:GQ:PL	0/1:45,48,0:93:99:1861,0,1654,1997,1800,3797	13	1	4	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:33,0,14,0,3,0:50:99:373,486,1567,0,1157,1351,486,1567,1157,1567,411,1260,770,1260,1181,486,1567,1157,1567,1260,1567	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:33,0,14,0,3,0:50:99:373,486,1567,0,1157,1351,486,1567,1157,1567,411,1260,770,1260,1181,486,1567,1157,1567,1260,1567	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:33,0,14,0,3,0:50:99:373,486,1567,0,1157,1351,486,1567,1157,1567,411,1260,770,1260,1181,486,1567,1157,1567,1260,1567	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:33,0,14,0,3,0:50:99:373,486,1567,0,1157,1351,486,1567,1157,1567,411,1260,770,1260,1181,486,1567,1157,1567,1260,1567	4	0	0	0
chr12	121245171	121245171	G	A	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon14:c.C1522T:p.R508C	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.435	M	0.65	T	-0.441	T	0.293	T	0.924	3.266	16.96	4.93	2.290	2.929	12.261	0.343	0.225571772144	7.7e-05	.	0.0001	0	0.0002	0.0009	0	3.111e-05	0	0.0003	7.76e-05	12	154602	rs201470961	7.837e-05	8.14e-05	7.38e-05	8.3e-05	0.0008	6.632e-05	6.172e-05	0.0005	0.0005	0	0	0	0.0008	0	0.0003	4.872e-05	0.0002	0.0002	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0015	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	5.879e-05	0	0.0006	0.001	0.91255	D	0.002	0.83351	D	0.998	0.90584	D	0.934	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.65	0.52642	T	-5.71	0.88495	D	0.843	0.87481	-0.4410	0.70697	T	0.293	0.66479	T	10	0.5751624	0.65538	D	0.225572	0.88003	D	0.343	0.66488	.	.	0.865686649726	0.86438	0.7352451559491158	0.73469	1.2086047739	0.80767	0.731103897095	0.71667	T	0.820433	0.95603	D	0.0304495	0.55784	T	0.170125	0.81416	D	0.563693702220917	0.34995	D	0.997	0.99243	D	0.48058018	0.65935	0.30026335	0.56060	0.48058018	0.65936	0.30026335	0.56059	-9.49	0.71313	D	.	.	0.198	0.64848	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.508330	0.91656	32	0.99928791480014967	0.99222	0.87573	0.47157	D	AEFBHCI	0.744575	0.68752	D	0.563147076848704	0.70885	5.567905	0.477685668468815	0.66513	4.961997	0.999481222704088	0.39952	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	3.009000	0.49239	8.683000	0.78050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:0.8302:0.1698	12.261	0.53967	534	0.73357	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1526.98	35	chr12	121245171	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.228e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1541,0,1042	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:1,16,29,0,0:46:99:1779,1062,1042,598,0,518,1743,1101,628,1761,1743,1101,628,1761,1761	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:1,16,29,0,0:46:99:1779,1062,1042,598,0,518,1743,1101,628,1761,1743,1101,628,1761,1761	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:1,16,29,0,0:46:99:1779,1062,1042,598,0,518,1743,1101,628,1761,1743,1101,628,1761,1761	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:1,16,29,0,0:46:99:1779,1062,1042,598,0,518,1743,1101,628,1761,1743,1101,628,1761,1761	0	1	2	0
chr12	128544097	128544097	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon3:c.G1115A:p.R372H,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.477	P	0.048	B	.	.	0.899	N	1.5	L	2.55	T	-1.060	T	0.028	T	0.182	1.878	12.24	2.87	0.514	1.833	10.796	0.016	0.00789856746837	.	.	0.0002	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs759264452	0.0001	0.0001	0.0001	9.845e-05	0.0006	9.073e-05	8.512e-05	0.0002	9.962e-05	3.234e-05	3.032e-05	0	2.871e-05	0	0.0006	0.0001	0.0001	0	8.535e-05	8.53e-05	5.14e-05	0.0001	0.0001	4.953e-05	3.96e-05	6.803e-05	5.087e-05	2.405e-05	0	6.53e-05	0	0	0	0	0.0001	0.0009	0	0.473	0.08408	T	0.098	0.39040	T	0.477	0.36687	P	0.048	0.24975	B	.	.	.	.	0.999905	0.27743	N	2.045	0.56016	M	2.55	0.13795	T	-1.12	0.28906	N	0.15	0.15328	-1.0605	0.11632	T	0.028	0.12190	T	9	0.098647475	0.17850	T	0.007899	0.20955	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.23150915692542706	0.23065	0.117901996742	0.13276	0.474954485893	0.35363	T	0.011932	0.10575	T	-0.445068	0.01207	T	-0.612657	0.11770	T	0.0853243097662926	0.10653	T	0.729627	0.34527	T	0.055220716	0.10703	0.06863291	0.14357	0.055220716	0.10703	0.06863291	0.14357	-4.683	0.33197	T	.	.	0.090	0.12512	B	.	.	1.688914	0.21521	15.23	0.98513663369059412	0.42374	0.43868	0.27193	N	AEFDI	0.145977	0.26932	N	-0.378208458605597	0.26246	1.431014	-0.405682532619365	0.24830	1.361922	0.0011071197150348	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.71	2.87	0.32523	2.080000	0.41211	-0.001000	0.13204	0.676000	0.76740	0.945000	0.32849	0.000000	0.08366	0.400000	0.26782	0.1546:0.0:0.8454:0.0	10.796	0.45663	993	0.01300	.	.	.	.	.	.	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	0.07143	3219.66	34	chr12	128544097	.	G	A	3219.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.793e+00;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.057;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,39:67:99:969,0,767	19	1	1	0
chr12	128693988	128693988	C	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon6:c.C1609A:p.L537I,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	0.33	T	0.094	D	0.467	T	0.804	4.675	25.8	5.0	2.318	5.762	18.315	0.344	0.0459646022109	0.0015	0.000998403	0.0005	0.0005	0	0	0	0.0011	0	0	0.000304	47	154602	rs191481498	0.0016	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	3.971e-05	0	0.0003	0.0009	0.0019	0.0012	3.786e-05	0.0011	0.0011	0.0011	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0018	0	0	0.0005	0	0.0017	0.0038	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000111	0.50451	D	0.000000	1	0.81001	D	3.21	0.89262	M	0.33	0.58323	T	-1.9	0.44284	N	0.731	0.73195	0.094	0.84063	D	0.467	0.79438	T	10	0.086662054	0.14752	T	0.045965	0.62234	D	0.344	0.66582	.	.	0.606269656155	0.60311	0.4843657721158751	0.48356	0.511025381383	0.49196	0.636266589165	0.58035	T	0.196116	0.55240	T	-0.111219	0.34567	T	0.0602015	0.74257	D	0.110051775539562	0.13429	T	0.999655	0.99877	D	0.59884	0.72629	0.51621604	0.72047	0.59884	0.72630	0.51621604	0.72048	-10.213	0.75176	D	.	.	0.431	0.61234	A	.	.	4.559583	0.71841	25.7	0.99548516920856822	0.70961	0.92706	0.56347	D	AEFDHCI	0.802031	0.72757	D	0.80048369380524	0.86136	8.789569	0.733532315730937	0.84923	8.429505	0.999966088321351	0.48965	0.65861	0.49226	0	0.615948	0.52940	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	5.846000	0.69165	7.519000	0.59733	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.315	0.90156	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	35	chr12	128693988	.	C	A	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.145e+00;DP=812;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.93;ReadPosRankSum=0.566;SOR=0.463	GT:AD:DP:GQ:PL	0/1:30,67:97:99:1753,0,705	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,32,47,0,0:79:99:.:.:3431,1529,1328,1074,0,868,3083,1515,1067,2964,3083,1515,1067,2964,2964	4	2	6	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/2:1,14,16,0:31:99:813,362,302,298,0,280,760,375,327,757	1	1	4	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X,	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	6.871	38	0.875	0.632	6.258	5.899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	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	0.07143	912.68	205	chr13	25097003	.	A	T	912.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.010;DP=3665;ExcessHet=0.3300;FS=0.927;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.08;MQRankSum=-1.511e+00;QD=1.34;ReadPosRankSum=-9.730e-01;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,19:216:99:0|1:25097003_A_T:176,0,8185:25097003	18	0	3	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,34,21:245:99:.:.:888,0,7867,516,7128,8418	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:181,21,33:235:99:0|1:25097003_A_T:873,492,8019,0,6751,7492:25097003	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:191,19,34:244:99:.:.:874,665,8502,0,7212,7901	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:182,34,21:237:99:.:.:954,0,7458,516,6719,8009	4	0	16	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:36,2,29:67:99:.:.:1183,959,2316,0,1364,1348	14	0	0	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.046	B	0.04	B	0.002	N	1.000	N	2.215	M	0.63	T	-1.000	T	0.101	T	0.137	-0.356	2.320	-3.37	-0.634	-0.442	4.234	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	342.11	35	chr13	42303096	.	G	C	342.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.322e+00;DP=1730;ExcessHet=0.1072;FS=154.189;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.50;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,27:141:99:.:.:257,0,3566	19	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,27:141:99:.:.:257,0,3566	0	0	20	1
chr13	49207295	49207295	G	A	exonic	FNDC3A	.	nonsynonymous SNV	FNDC3A:NM_014923:exon24:c.G3329A:p.R1110Q	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.38	B	0.049	B	0.002	N	1.000	D	2.005	M	1.32	T	-1.035	T	0.099	T	0.281	1.929	12.41	5.38	2.515	3.268	18.122	0.050	0.00821067554988	.	0.000399361	0.0004	9.658e-05	0	0	0	0.0001	0	0.0022	0.0003363	52	154602	rs200658303	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0024	0.0022	0	0.0003	7.653e-05	0.0001	1.872e-05	0.0002	7.015e-05	0.0001	0.0026	0.0001	0.0001	5.138e-05	0.0002	0.0031	9.736e-05	8.251e-05	0.0019	0.0015	0	0	6.532e-05	0	0	0	0	8.82e-05	0	0.0031	0.563	0.06461	T	0.664	0.06427	T	0.133	0.34363	B	0.015	0.25116	B	0.001785	0.37998	N	0.111853	0.999938	0.52935	D	0.965	0.23975	L	1.32	0.35219	T	-0.37	0.13226	N	0.068	0.04188	-1.0352	0.18794	T	0.099	0.36957	T	10	0.0071049333	0.00162	T	0.008211	0.21750	T	0.050	0.13987	.	.	0.231005064126	0.22704	0.22808195957854355	0.22723	0.249917041605	0.27571	0.331790834665	0.15205	T	0.176695	0.52673	T	-0.475452	0.00787	T	-0.462206	0.26359	T	0.0136885986070171	0.00256	T	0.829117	0.49388	T	0.034543343	0.03897	0.052246932	0.08571	0.034543343	0.03897	0.052246932	0.08571	-3.562	0.17310	T	.	.	0.118	0.24363	B	.;.;.	.;.;.	3.107161	0.41893	21.4	0.98589623089235812	0.43349	0.93964	0.59705	D	AEFBI	0.514319	0.54174	D	0.0474726208729883	0.44027	2.684265	0.156674292151912	0.47497	2.979005	0.999995717217899	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.356000	0.51987	6.734000	0.56465	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.122	0.89503	660	0.61921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3798.08	33	chr13	49207295	.	G	A	3798.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.61;SOR=2.045	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3826,339,0	20	1	0	0
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:12,0,9:21:99:0|1:71866526_T_TGCCGCC:341,378,879,0,501,474:71866526	15	0	2	0
chr13	78602198	78602199	CG	-	exonic	POU4F1	.	frameshift deletion	POU4F1:NM_006237:exon2:c.476_477del:p.P159Rfs*189,	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431309808	0.0006	0.0017	0.0007	0.0006	0.0035	0.0005	0.0005	0.0005	0.0005	0.0003	0.0035	0	0.0011	0	0	0.0006	0.0007	0.0002	0	8.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,4:5:30:.:.:125,128,170,0,42,30	2	0	1	17
chr13	78602197	78602199	CCG	0	exonic	POU4F1	.	.	.	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,4:5:30:.:.:125,128,170,0,42,30	2	0	1	17
chr13	78602201	78602201	G	0	exonic	POU4F1	.	.	.	.	.	1471	16	0	12	23	47	0.428571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	41.11	33	chr13	78602201	.	G	C,*	41.11	.	AC=1,1;AF=0.167,0.167;AN=6;BaseQRankSum=-6.740e-01;DP=33;ExcessHet=0.9691;FS=3.979;MLEAC=3,3;MLEAF=0.500,0.500;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,4:5:30:.:.:125,128,170,0,42,30	1	0	1	18
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,27,0:65:99:.:.:995,0,1462,1110,1544,2654	9	2	7	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	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	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:127,49:188:89:89,0,2986	8	0	10	3
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	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	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/2:149,30,51:231:20:20,227,3126,0,2764,2840	5	0	3	10
chr13	108823254	108823254	A	G	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon9:c.A1073G:p.D358G	.	.	0	225	1	0	0	1	0.00221729	.	.	725351	not_provided|MYO16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.998	D	0.957	D	0.001	U	1.000	N	2.24	M	-1.2	T	-0.333	T	0.428	T	0.359	2.936	15.79	1.12	-0.028	3.037	11.255	0.342	.	7.7e-05	0.00419329	0.0018	0.0003	0.0016	0.0219	0	1.5e-05	0	0.0005	0.0017011	263	154602	rs144509002	0.0009	0.0009	0.0010	0.0009	0.0292	0.0009	0.0009	0.0278	0.0273	5.985e-05	0.0015	0	0.0292	0	0	1.35e-05	0.0007	0.0006	0.0009	0.0009	0.0008	0.0009	0.0211	0.0007	0.0007	0.0179	0.0167	0.0001	0	0.0007	0	0.0211	0	0	1.471e-05	0.0009	0.0006	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.957	0.69900	D	0.000754	0.42006	U	0.000000	1	0.08975	N	2.425	0.70256	M	-1.51	0.81399	D	-2.42	0.65627	N	0.51	0.61764	-0.3334	0.74035	T	0.428	0.77107	T	9	0.007999957	0.00182	T	.	.	.	0.342	0.66392	.	.	0.87841230806	0.87722	0.6294865031881459	0.62882	0.547931574497	0.51759	0.33518499136	0.15715	T	0.009338	0.20287	T	-0.311349	0.07629	T	-0.203752	0.54289	T	0.11218827132629	0.13649	T	.	.	.	0.17639327	0.38550	0.29101014	0.55125	0.22399275	0.45032	0.24758855	0.50291	-3.915	0.22527	T	.	.	0.178	0.38800	B	.;.;.;.	.;.;.;.	2.333278	0.29889	18.27	0.99430267467932221	0.64227	0.65008	0.32594	D	AEFI	0.198831	0.32566	N	-0.0514546036155782	0.39536	2.333186	-0.228206681905743	0.30530	1.719774	0.00553536411806676	0.10969	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	1.12	0.19700	3.052000	0.49584	3.228000	0.36892	0.691000	0.84096	0.987000	0.36337	0.981000	0.30433	0.005000	0.06747	0.5395:0.4605:0.0:0.0	11.255	0.48282	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	907.98	42	chr13	108823254	.	A	G	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=787;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-4.950e-01;SOR=0.483	GT:AD:DP:GQ:PL	0/1:40,39:79:99:922,0,954	20	0	1	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,67,0,0,0,0:163:99:0|1:112547538_ATGGGAAAGTCGCGCG_A:2497,0,3606,2967,4014,8047,2967,4014,8047,8047,2967,4014,8047,8047,8047,2967,4014,8047,8047,8047,8047:112547538	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,67,0,0,0,0:163:99:0|1:112547538_ATGGGAAAGTCGCGCG_A:2497,0,3606,2967,4014,8047,2967,4014,8047,8047,2967,4014,8047,8047,8047,2967,4014,8047,8047,8047,8047:112547538	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,67,0,0,0,0:163:99:0|1:112547538_ATGGGAAAGTCGCGCG_A:2497,0,3606,2967,4014,8047,2967,4014,8047,8047,2967,4014,8047,8047,8047,2967,4014,8047,8047,8047,8047:112547538	7	0	5	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2451.41	175	chr13	112547564	.	G	A,*	2451.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-1.472e+00;DP=2434;ExcessHet=0.1072;FS=1.260;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=6.85;ReadPosRankSum=0.573;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,99,0:186:99:1|0:112547538_ATGGGAAAGTCGCGCG_A:2465,0,3055,2940,3410,7057:112547538	18	0	1	1
chr13	113117586	113117622	CGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC	-	exonic	F7	.	frameshift deletion	F7:NM_001267554:exon5:c.543_553del:p.I181Mfs*12	Factor VII deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	615744	Factor_VII_deficiency|not_provided|Congenital_factor_VII_deficiency	MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|MedGen:C3661900|MONDO:MONDO:0009211,MedGen:C0272320,OMIM:227500,Orphanet:327	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	8.645e-05	0	0	0.0008	0	0.0001	0.0001153	3	26028	rs1309684522	0.0018	0.0018	0.0018	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0004	0.0017	0.0055	0	0.0040	0.0010	0.0018	0.0024	0.0006	0.0026	0.0029	0.0027	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0005	0.0077	0.0022	0.0061	0	0.0035	0.0068	0.0040	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	523.94	35	chr13	113117585	.	TCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC	T	523.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=808;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.72;MQRankSum=-1.573e+00;QD=7.71;ReadPosRankSum=0.531;SOR=0.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,19:68:99:0|1:113117585_TCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC_T:538,0,1712:113117585	20	0	1	0
chr13	113139392	113139392	C	G	exonic	F10	.	nonsynonymous SNV	F10:NM_000504:exon4:c.C292G:p.Q98E	Factor X deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.007	B	0.015	B	0.386	N	1.000	N	0.615	N	-4.89	D	0.138	D	0.848	D	0.049	0.060	4.327	0.659	-0.480	0.096	13.704	0.325	0.0433168086848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.18308	T	0.523	0.12668	T	0.007	0.14184	B	0.015	0.17295	B	0.386311	0.04451	N	1.329280	1	0.08975	N	-1.015	0.01143	N	-4.89	0.98313	D	-0.7	0.21215	N	0.131	0.12627	0.138	0.84846	D	0.848	0.94916	D	10	0.18665126	0.34139	T	0.043317	0.60920	D	0.325	0.64725	0.381	0.39807	0.858465276413	0.85710	0.7264341038236296	0.72587	0.565267555211	0.52870	0.270203709602	0.06168	T	0.266357	0.77703	T	-0.0852311	0.38860	T	-0.360205	0.38028	T	0.207658961415291	0.20830	T	0.706229	0.31676	T	0.19044305	0.40629	0.17547177	0.40014	0.19044305	0.40629	0.17547177	0.40013	-4.902	0.35757	T	0.1616459173400044	0.19803	0.066	0.02200	B	.;.;.	.;.;.	-0.340271	0.02445	0.279	0.71542500644615203	0.09664	0.48518	0.28225	N	AEFDGBHCI	0.563527	0.57068	D	-1.22897121095375	0.04584	0.2072145	-1.18559399272297	0.06149	0.2951221	0.999999998974462	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.63	0.659	0.17033	0.132000	0.15716	-0.338000	0.09838	-1.674000	0.00795	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1746:0.3362:0.4892:0.0	13.704	0.62107	929	0.16858	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4579.98	34	chr13	113139392	.	C	G	4579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.241e+00;DP=1113;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.200e-02;SOR=0.593	GT:AD:DP:GQ:PL	0/1:203,200:403:99:4594,0,4962	20	0	1	0
chr14	20990022	20990022	G	A	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon1:c.G20A:p.C7Y	.	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.021	N	1.000	N	-1.39	N	1.6	T	-1.057	T	0.015	T	0.072	-1.148	0.104	-11.1	-2.944	-2.245	4.141	0.028	0.00121846973156	0.0023	0.000599042	0.0014	0.0005	0.0012	0	0.0002	0.0022	0	0.0001	0.0014877	230	154602	rs140652112	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0025	0.0025	0.0003	0.0016	0.0009	0	0.0002	0.0016	0.0026	0.0021	5.807e-05	0.0015	0.0015	0.0018	0.0012	0.0024	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0024	0.0009	0	0.0002	0	0.0024	0.0024	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.020565	0.01535	N	2.132320	1	0.08975	N	-1.61	0.00416	N	1.6	0.29602	T	-0.72	0.20358	N	0.054	0.21319	-1.0569	0.12543	T	0.015	0.05849	T	10	0.0042485297	0.00085	T	0.001218	0.01608	T	0.028	0.06331	.	.	0.0762999501168	0.06990	0.4358616548657623	0.43503	0.482400438877	0.47204	0.425316393375	0.28569	T	0.00391	0.03323	T	-0.693151	0.00040	T	-0.770229	0.02761	T	0.0103324027836682	0.00141	T	0.321068	0.06505	T	0.04561098	0.07495	0.09765748	0.23253	0.04561098	0.07494	0.09765748	0.23252	-5.725	0.43915	T	.	.	0.055	0.01059	B	.;.;.	.;.;.	-2.319716	0.00048	0.001	0.77586023011685912	0.11938	0.06896	0.12921	N	ALL	0.031481	0.03376	N	-2.48130269060062	0.00018	0.0007615231	-2.48924965746019	0.00024	0.001082294	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.55	-11.1	0.00116	-2.238000	0.01282	-5.486000	0.01701	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1079:0.1583:0.4208:0.313	4.141	0.09659	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	376.98	34	chr14	20990022	.	G	A	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.126e+00;DP=782;ExcessHet=0.0000;FS=3.115;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-2.490e-01;SOR=0.259	GT:AD:DP:GQ:PL	0/1:27,15:42:99:391,0,801	20	0	1	0
chr14	23378482	23378482	G	A	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001037288:exon2:c.G260A:p.R87Q	.	.	419	1102	1	0	0	1	0.000453515	.	.	3305132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.91	D	0.008	N	1.000	N	1.245	L	1.76	T	-0.904	T	0.148	T	0.436	3.117	16.42	5.05	1.527	1.649	8.576	0.118	0.0213839303923	0.0002	.	9.061e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139744261	4.994e-05	4.994e-05	5.173e-05	4.813e-05	6.709e-05	4.059e-05	3.734e-05	1.779e-05	1.15e-05	2.987e-05	6.709e-05	0.0013	0	0	0	2.068e-05	0.0001	2.319e-05	4.602e-05	4.596e-05	5.139e-05	4.039e-05	6.547e-05	2.11e-05	1.528e-05	.	.	0	0	6.547e-05	0.0012	0	0	0	1.47e-05	0.0005	0	0.103	0.34444	T	0.128	0.92824	T	1.0	0.90584	D	0.91	0.64641	D	0.008453	0.30835	N	0.226724	1	0.81001	D	1.01	0.25309	L	1.76	0.44461	T	-1.28	0.33598	N	0.324	0.36464	-0.9039	0.47572	T	0.148	0.47362	T	10	0.038475484	0.02268	T	0.021384	0.44151	T	0.118	0.32913	.	.	0.638873723364	0.63589	0.4278030796054202	0.42697	0.182628553188	0.20529	0.374113380909	0.21419	T	0.013175	0.11445	T	-0.25075	0.14005	T	-0.422114	0.30832	T	0.231551021337509	0.22025	T	0.79842	0.45334	T	0.077549934	0.17607	0.09496661	0.22503	0.077549934	0.17607	0.09496661	0.22502	-2.709	0.38728	T	.	.	0.086	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.996810	0.58859	24.0	0.99896961888383151	0.96971	0.31854	0.24441	N	AEFGBI	0.215471	0.34083	N	-0.249223380063814	0.31133	1.742782	-0.195149752338082	0.31715	1.797418	0.999874947614461	0.44625	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.94	5.05	0.67566	1.947000	0.39919	5.081000	0.47267	0.676000	0.76740	0.132000	0.23378	0.998000	0.33993	0.540000	0.29938	0.0804:0.1529:0.7667:0.0	8.576	0.32761	372	0.84213	.;.;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3252.98	39	chr14	23378482	.	G	A	3252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=1009;ExcessHet=0.0000;FS=2.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.058;SOR=0.730	GT:AD:DP:GQ:PL	0/1:163,136:299:99:3267,0,3783	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,36:124:99:.:.:133,0,2341	4	0	11	6
chr14	34533483	34533483	T	C	exonic	EAPP	.	nonsynonymous SNV	EAPP:NM_001318916:exon3:c.A313G:p.I105V	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.002	B	0.005	B	0.002	N	0.844	D	0.615	N	1.06	T	-1.042	T	0.040	T	0.115	0.729	7.874	-1.22	-0.357	0.479	10.741	0.024	0.00249308276342	.	0.00179712	0.0003	0	0	0.0022	0	0	0.0011	0.0012	0.0003169	49	154602	rs182501170	0.0001	0.0001	0.0001	0.0002	0.0015	0.0001	0.0001	0.0012	0.0011	0	0	0	0.0015	0	0	0	0.0001	0.0014	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	0	0	0.0052	0	0	0	0	0.0014	0.568	0.07002	T	0.721	0.08870	T	0.002	0.09854	B	0.005	0.11217	B	0.001606	0.38497	N	0.316524	0.848999	0.35190	D	1.155	0.29575	L	1.06	0.39990	T	-0.11	0.08653	N	0.193	0.23884	-1.0416	0.16830	T	0.040	0.17234	T	10	0.0060106814	0.00135	T	0.002493	0.04953	T	0.024	0.04979	.	.	0.18995819373	0.18626	0.11190498217573697	0.11119	0.0345670809689	0.03633	0.336350023746	0.15891	T	0.004233	0.07436	T	-0.567036	0.00230	T	-0.588758	0.13773	T	0.00697391945868731	0.00079	T	0.693931	0.30359	T	0.01443719	0.00093	0.02241219	0.00267	0.01443719	0.00093	0.02241219	0.00266	-2.996	0.10138	T	.	.	0.065	0.14888	B	.;.;.	.;.;.	0.828831	0.12004	8.560	0.66648478742327444	0.08121	0.69594	0.34250	D	AEBI	0.081454	0.16482	N	-0.772352028422837	0.14034	0.695856	-0.632719012537735	0.18655	0.9975059	0.00343346050468484	0.10114	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	-1.22	0.09005	0.516000	0.22523	1.244000	0.25126	-0.123000	0.13640	0.992000	0.37556	1.000000	0.68203	0.971000	0.54645	0.0:0.3945:0.0:0.6055	10.741	0.45353	963	0.08280	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1036.98	45	chr14	34533483	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=780;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-3.440e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1051,0,1133	20	0	1	0
chr14	35534662	35534662	C	G	exonic	INSM2	.	nonsynonymous SNV	INSM2:NM_032594:exon1:c.C410G:p.S137C,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.96	D	0.007	N	1.000	D	0.695	N	0.14	T	-0.578	T	0.237	T	0.503	4.252	22.2	4.11	2.113	4.422	13.896	0.203	0.772839279227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397241732	7.946e-07	2.736e-06	0	1.628e-06	1.742e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.742e-05	1.319e-05	1.315e-05	1.29e-05	1.349e-05	0.0004	2.19e-06	8.2e-07	6.918e-05	2.891e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.96	0.70309	D	0.006889	0.31732	N	0.000000	0.999994	0.58761	D	2.305	0.65957	M	0.14	0.60854	T	-3.34	0.66325	D	0.133	0.12913	-0.5779	0.65700	T	0.237	0.60403	T	10	0.37124676	0.53492	T	0.772839	0.98205	D	0.203	0.48915	0.334	0.32167	0.222439326576	0.21863	0.432516381402901	0.43168	.	.	0.881881833076	0.94213	D	0.209663	0.56993	T	0.00307948	0.52079	T	-0.233353	0.51446	T	0.98567920923233	0.76598	D	0.577142	0.20757	T	0.46092448	0.64729	0.3779261	0.62882	0.46092448	0.64729	0.3779261	0.62881	-4.929	0.36060	T	.	.	0.335	0.55576	B	.	.	4.665922	0.74522	26.2	0.99189674989977328	0.54935	0.80341	0.40005	D	AEFDBHCI	0.606439	0.59678	D	0.466653280688608	0.65153	4.786949	0.459395322460442	0.65323	4.809206	0.999999999985954	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	2.274000	0.43049	7.326000	0.58184	0.467000	0.21759	0.981000	0.35396	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	13.896	0.63279	444	0.79803	.	.	.	.	.	.	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	0.02381	335.98	40	chr14	35534662	.	C	G	335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=620;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=1.21;SOR=0.809	GT:AD:DP:GQ:PL	0/1:21,14:35:99:350,0,489	20	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N	.	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.991	D	0.000	D	1.000	D	.	.	-0.82	T	-0.261	T	0.422	T	0.135	2.996	15.99	2.67	0.295	0.487	8.648	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1873.11	33	chr14	50443957	.	C	G	1873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.640e-01;DP=846;ExcessHet=0.1072;FS=1.143;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-8.850e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1111,0,969	19	0	2	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.885	P	0.214	N	1.000	N	1.735	L	1.68	T	-1.054	T	0.102	T	0.699	3.193	16.69	2.08	0.107	0.322	7.430	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	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	0.07143	321.68	35	chr14	58138194	.	A	G	321.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.825e+00;DP=1819;ExcessHet=0.3300;FS=107.760;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.27;SOR=8.424	GT:AD:DP:GQ:PL	0/1:114,19:133:99:133,0,3023	18	0	3	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:43,12:55:72:72,0,931	0	0	21	0
chr14	58646513	58646513	G	T	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.G1779T:p.K593N	.	YES	8	1512	2	0	0	2	0.000660939	.	.	2417704	Townes-Brocks_syndrome_2	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.42	T	0.787	P	0.447	P	0.001	D	1.000	N	1.39	L	0.81	T	-0.998	T	0.110	T	0.102	1.085	9.428	0.88	0.249	1.427	11.258	0.086	0.233038007096	0.0004	.	0.0006	0.0003	0	0	0.0031	0.0008	0	0.0002	0.0002652	41	154602	rs201251394	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0006	0	0	0.0005	0.0009	0.0010	0.0006	0.0001	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0004	0.0010	0.0009	0.0002	0	0.0015	0	0	0.0002	0.0136	0.0007	0.0005	0	0.016	0.57480	D	0.071	0.43531	T	0.787	0.44504	P	0.447	0.46003	P	0.000521	0.43581	D	0.194731	1	0.08975	N	2.535	0.73915	M	0.81	0.48460	T	-1.88	0.43906	N	0.12	0.16308	-0.9975	0.30618	T	0.110	0.39533	T	10	0.024522454	0.00677	T	0.233038	0.88348	D	0.086	0.25016	0.157	0.06070	0.418638904736	0.41481	0.18788239580635646	0.18706	0.526887597323	0.50308	0.575884640217	0.49507	T	0.034019	0.37431	T	-0.475553	0.00786	T	-0.543822	0.17924	T	0.0527059097581947	0.05968	T	0.773923	0.40554	T	0.11667866	0.27518	0.09860115	0.23514	0.11667866	0.27518	0.09860115	0.23514	-5.723	0.43897	T	.	.	0.891	0.82175	P	.;.;.;.	.;.;.;.	2.507937	0.32389	19.03	0.98646569094332148	0.44123	0.66567	0.33123	D	AEFDBHCI	0.150968	0.27535	N	-0.455302831701151	0.23561	1.266097	-0.517379046468348	0.21681	1.174035	0.99999999154708	0.74766	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	5.32	0.88	0.18296	1.673000	0.37150	2.248000	0.31665	-0.135000	0.12811	0.997000	0.40164	0.996000	0.32793	0.098000	0.18187	0.3568:0.0:0.6431:0.0	11.258	0.48295	471	0.78036	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1199.98	64	chr14	58646513	.	G	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e-01;DP=1323;ExcessHet=0.0000;FS=3.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.262;SOR=0.362	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1214,0,1264	20	0	1	0
chr14	59977224	59977224	G	A	splicing	LRRC9	NM_001355272:exon14:c.1640-1G>A	.	.	.	.	461	1058	3	0	0	3	0.00141576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0014	0	0	0	0.0006	0.0038	0	0.0005	0.0002199	34	154602	rs138661438	0.0006	0.0005	0.0006	0.0006	0.0075	0.0006	0.0005	0.0054	0.0046	0.0001	0.0006	0.0034	0	9.118e-05	0.0075	0.0005	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0007	7.236e-05	0	0.0012	0.0038	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16688	0.70837	D	0.382662	0.91525	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.046651	0.94428	34	0.99517706594056354	0.69040	0.95759	0.66033	D	AEFBI	.	.	.	.	.	.	.	.	.	0.972720049685193	0.29394	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.97763	0.81376	5.86	5.86	0.93936	6.955000	0.75805	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.0:1.0:0.0	19.794	0.96465	502	0.75873	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	617.98	34	chr14	59977224	.	G	A	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=719;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=0.667;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,22:41:99:632,0,466	20	0	1	0
chr14	64738782	64738782	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1445C:p.R482T,	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.718	P	0.288	B	0.013	N	1.000	D	1.95	M	1.46	T	-1.085	T	0.059	T	0.27	2.621	14.73	2.05	0.628	2.800	5.310	0.044	0.0106807432548	0.0002	0.000998403	0.0022	0	0.0024	0	0	0.0006	0	0.0078	0.0008279	128	154602	rs146233369	0.0006	0.0006	0.0004	0.0008	0.0061	0.0005	0.0005	0.0057	0.0055	6.032e-05	0.0004	0	2.555e-05	0	0.0038	0.0002	0.0007	0.0061	0.0004	0.0004	0.0003	0.0006	0.0050	0.0004	0.0003	0.0034	0.0029	7.215e-05	0	0.0005	0.0003	0	0	0.0136	0.0004	0.0005	0.0050	0.002	0.72154	D	0.589	0.18125	T	0.589	0.42284	P	0.288	0.40614	B	0.013202	0.28915	N	0.333498	1	0.81001	D	2.48	0.72069	M	0.96	0.42888	T	-3.27	0.66085	D	0.365	0.49237	-1.0851	0.06389	T	0.059	0.24612	T	10	0.0068308115	0.00155	T	0.010681	0.27493	T	0.044	0.11924	.	.	0.427139414373	0.42328	0.28526189739571284	0.28439	0.296477022093	0.32036	0.325851082802	0.14306	T	0.030	0.21560	T	-0.454253	0.01066	T	-0.423637	0.30660	T	0.019327726132529	0.00638	T	0.579042	0.21881	T	0.11241964	0.26559	0.07752393	0.17277	0.11241964	0.26559	0.07752393	0.17277	-5.827	0.44809	T	.	.	0.117	0.40634	B	.;.;.;.	.;.;.;.	2.725465	0.35659	19.96	0.9671754665093576	0.30836	0.74454	0.36423	D	AEFDBCI	0.244885	0.36591	N	-0.0589792636731258	0.39202	2.308036	-0.0112146460580841	0.39208	2.321204	0.976547586801716	0.29735	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	2.05	0.25860	2.193000	0.42291	4.462000	0.43463	0.676000	0.76740	0.968000	0.34134	1.000000	0.68203	0.879000	0.42020	0.5013:0.0:0.4987:0.0	5.310	0.15133	404	0.82510	.;.;.;.	.	.	.	.	.	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	0.04762	3354.11	34	chr14	64738782	.	G	C	3354.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.410e-01;DP=944;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.409;SOR=0.788	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1580,0,1832	19	0	2	0
chr14	69122295	69122295	T	C	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon2:c.A280G:p.I94V	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.003	B	0.001	D	0.969	D	-0.17	N	1.6	T	-1.083	T	0.060	T	0.087	1.678	11.57	1.96	0.393	1.396	7.699	0.032	0.00399968796386	0.0002	0.000998403	0.0003	0	8.672e-05	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs149306770	0.0003	0.0003	0.0002	0.0003	0.0073	0.0003	0.0002	0.0055	0.0049	8.961e-05	0.0002	0	0	0	0.0073	0.0002	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.81e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0004	0.467	0.10802	T	1.0	0.02685	T	0.003	0.11197	B	0.001	0.06944	B	0.000887	0.41231	D	0.216774	0.968656	0.38675	D	-1.32	0.00691	N	1.6	0.65931	T	0.23	0.04613	N	0.072	0.06059	-1.0829	0.06795	T	0.060	0.25237	T	10	0.0116221905	0.00253	T	0.004	0.09493	T	0.032	0.07718	.	.	0.0934897674506	0.08844	0.09926267678117934	0.09857	1.03285227811	0.75478	0.452510535717	0.32287	T	0.026902	0.19814	T	-0.474108	0.00802	T	-0.526604	0.19628	T	0.0207430000855697	0.00774	T	0.835216	0.50504	T	0.019868894	0.00528	0.024162482	0.00432	0.019868894	0.00527	0.024162482	0.00432	-2.526	0.09253	T	.	.	0.056	0.03887	B	.;.;.;.;.;.	.;.;.;.;.;.	1.410379	0.18257	13.64	0.92678203058504605	0.22163	0.68567	0.33851	D	AEFDGBI	0.091362	0.18507	N	-0.74526079491701	0.14762	0.7381456	-0.525363286589432	0.21465	1.161342	0.938790932921965	0.27359	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	1.96	0.25203	1.406000	0.34254	0.823000	0.21872	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.3307:0.0:0.6693	7.699	0.27777	890	0.26919	WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1666.98	33	chr14	69122295	.	T	C	1666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.605;DP=857;ExcessHet=0.0000;FS=2.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-2.099e+00;SOR=0.964	GT:AD:DP:GQ:PL	0/1:90,74:164:99:1681,0,2116	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,21,0:21:63:910,63,0,910,63,910	0	19	0	0
chr14	70046270	70046270	T	C	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_182936:exon5:c.A532G:p.I178V	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.943	P	0.941	D	0.000	D	1.000	D	0.56	N	-0.06	T	-0.674	T	0.269	T	0.246	3.436	17.62	5.76	2.197	6.289	16.086	0.205	0.0150688215027	0.0012	0.000798722	0.0021	9.694e-05	0.0003	0	0	0.0024	0.0022	0.0053	0.0018176	281	154602	rs150876389	0.0014	0.0014	0.0012	0.0016	0.0057	0.0013	0.0013	0.0053	0.0051	8.961e-05	0.0006	0.0205	0	5.618e-05	0.0036	0.0007	0.0023	0.0057	0.0011	0.0011	0.0013	0.0010	0.0048	0.0010	0.0010	0.0033	0.0028	0.0002	0	0.0003	0.0196	0	0	0.0034	0.0010	0.0019	0.0048	0.323	0.13699	T	0.404	0.15355	T	0.858	0.53072	P	0.867	0.67658	P	0.000000	0.84330	D	0.052440	1	0.81001	D	0.44	0.12706	N	-0.06	0.63568	T	-0.14	0.15986	N	0.297	0.49328	-0.6736	0.61665	T	0.269	0.64066	T	10	0.010262281	0.00229	T	0.015069	0.35586	T	0.205	0.49236	.	.	0.168254554758	0.16434	0.6494899498026514	0.64884	0.231541109432	0.25707	0.604542732239	0.53546	T	0.112443	0.42872	T	-0.396281	0.02449	T	-0.340364	0.40303	T	0.0603514966274254	0.07224	T	0.984502	0.94671	D	0.12602532	0.29529	0.16695906	0.38544	0.12602532	0.29529	0.16695906	0.38543	-4.686	0.33561	T	.	.	0.065	0.08560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.378950	0.46730	22.3	0.99835733928459636	0.91714	0.94211	0.60451	D	ALL	0.738911	0.68363	D	0.333959947340165	0.57900	3.959235	0.444276640483785	0.64349	4.688171	1.0	0.98316	0.65861	0.49226	0	0.688826	0.66785	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	5.76	5.76	0.90726	6.271000	0.72566	6.209000	0.54989	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.086	0.80864	709	0.56835	.;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	0.02381	1704.98	34	chr14	70046270	.	T	C	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.487e+00;DP=826;ExcessHet=0.0000;FS=4.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.904;SOR=0.406	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1719,0,1539	20	0	1	0
chr14	73898116	73898116	C	G	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon4:c.C215G:p.A72G	.	.	430	1091	1	0	0	1	0.000458085	.	.	2207414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.759	P	0.201	B	0.041	N	1.000	D	0.55	N	2.95	T	-0.972	T	0.018	T	0.298	2.752	15.16	4.93	2.565	1.408	13.719	0.030	0.00340861936343	.	0.000199681	4.942e-05	0	0	0	0	5.994e-05	0.0011	6.056e-05	4.53e-05	7	154602	rs559946770	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0003	1.674e-05	1.477e-05	6.092e-05	2.521e-05	0	2.236e-05	0.0003	0	0	0.0003	1.439e-05	9.934e-05	1.159e-05	5.256e-05	5.251e-05	7.713e-05	2.688e-05	0.0003	2.557e-05	1.83e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0009	0	0	0	0	0.0005	0	0.009	0.72154	D	0.272	0.65728	T	0.718	0.43487	P	0.201	0.36881	B	0.041290	0.23965	N	0.204155	0.757127	0.81001	D	1.845	0.48678	L	2.9	0.10101	T	-0.37	0.33798	N	0.115	0.14054	-0.9715	0.36883	T	0.018	0.07565	T	10	0.06253046	0.08009	T	0.003409	0.07664	T	0.030	0.07022	0.361	0.36548	0.151262610727	0.14761	0.16546765482836018	0.16466	0.48109839602	0.47113	0.614429593086	0.54941	T	0.086646	0.37769	T	-0.286634	0.09976	T	-0.47366	0.25124	T	0.0676732875568864	0.08321	T	0.922708	0.71908	D	0.17253917	0.37951	0.18852623	0.42148	0.17253917	0.37951	0.18852623	0.42147	-3.203	0.12591	T	.	.	0.169	0.40968	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.019529	0.40410	21.2	0.99431202300226074	0.64276	0.93809	0.59253	D	AEFGBI	0.437126	0.49706	N	0.0422582176789977	0.43786	2.664861	0.180548641302183	0.48780	3.089557	0.999123778748938	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	1.503000	0.35323	4.756000	0.44687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9233:0.0:0.0767	13.719	0.62194	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	490.98	36	chr14	73898116	.	C	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=0.771;SOR=0.606	GT:AD:DP:GQ:PL	0/1:35,23:58:99:505,0,907	20	0	1	0
chr14	74552291	74552291	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon6:c.C1295T:p.P432L,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1502	19	1	0	21	0.00694215	.	.	132462	Weill-Marchesani_syndrome_3|Glaucoma_3,_primary_congenital,_D|Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|Pseudoexfoliation_glaucoma|not_provided|Weill-Marchesani_syndrome	MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763|MONDO:MONDO:0008327,MedGen:C0206368,OMIM:177650|MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	0.111	B	0.011	B	0.141	N	1.000	N	1.085	L	0.82	T	-1.049	T	0.082	T	0.349	1.802	11.98	2.68	1.041	4.813	9.475	0.086	.	0.0005	0.00219649	0.0019	0.0004	8.705e-05	0.0001	0	0.0011	0.0023	0.0085	0.0015782	244	154602	rs137854861	0.0010	0.0010	0.0008	0.0012	0.0077	0.0010	0.0009	0.0072	0.0070	0.0003	0.0006	3.826e-05	0	3.804e-05	0.0071	0.0006	0.0015	0.0077	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0002	0	0.0019	0.0003	0.0002	0	0.0068	0.0008	0.0005	0.0087	0.786	0.03235	T	0.175	0.30045	T	0.111	0.26235	B	0.011	0.15521	B	0.140672	0.18302	N	0.397320	0.999997	0.08975	N	1.275	0.32135	L	0.82	0.48142	T	-2.96	0.61722	D	0.66	0.79792	-1.0492	0.14621	T	0.082	0.32295	T	10	0.004658282	0.00098	T	.	.	.	0.086	0.25016	.	.	0.448696893172	0.44491	0.5296310797705625	0.52887	0.158631535098	0.17909	0.457526087761	0.32971	T	0.552772	0.84886	D	-0.447621	0.01166	T	-0.410485	0.32170	T	0.029442969772891	0.01904	T	0.79622	0.43953	T	0.049320247	0.08740	0.061357796	0.11835	0.053248297	0.10048	0.061040673	0.11723	-5.75	0.44136	T	.	.	0.081	0.12418	B	.;.	.;.	3.292165	0.45157	22.1	0.91778519781276557	0.21081	0.67916	0.33607	D	AEFDBHCI	0.362874	0.45197	N	-0.567106761961793	0.19950	1.048139	-0.466526081254271	0.23081	1.256938	0.999982259942032	0.51787	0.722319	0.85440	0	0.59043	0.45803	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	4.9	2.68	0.30839	4.905000	0.62982	7.197000	0.57788	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.2558:0.0:0.7442:0.0	9.475	0.38029	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	38	chr14	74552291	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.913e+00;DP=928;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.162;SOR=0.796	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1163,0,1050	20	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T,	.	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	0.961	D	.	.	0.38	T	-0.928	T	0.151	T	0.163	1.712	11.69	2.54	0.620	0.660	3.855	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	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	0.04762	1032.11	30	chr14	75437912	.	C	A	1032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.333;DP=657;ExcessHet=0.1072;FS=4.599;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.250e-01;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,7:27:99:0|1:75437911_T_C:234,0,819:75437911	19	0	2	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,18,0:34:99:0|1:77027445_C_T:652,0,578,699,633,1332:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,18,0:34:99:0|1:77027445_C_T:652,0,578,699,633,1332:77027445	6	6	8	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	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	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:86,38:133:27:27,0,1439	5	0	16	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:23,16:39:98:98,0,333	9	0	10	2
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/5:0,17,0,0,0,14,0:31:99:.:.:2347,662,524,1888,662,1801,1888,662,1801,1801,1888,662,1801,1801,1801,758,0,758,758,758,627,1888,662,1801,1801,1801,758,1801	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,50:121:99:.:.:680,0,1149	0	0	21	0
chr14	99458347	99458347	T	C	exonic	SETD3	.	nonsynonymous SNV	SETD3:NM_032233:exon6:c.A607G:p.I203V	.	.	.	.	.	.	.	.	.	.	.	2444227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.002	B	0.000	N	0.999	N	1.055	L	2.69	T	-1.010	T	0.022	T	0.11	0.834	8.366	-2.46	-0.618	0.781	11.243	0.067	0.00529414882968	7.7e-05	0.000199681	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	4.53e-05	7	154602	rs200956499	5.199e-05	5.199e-05	4.9e-05	5.5e-05	0.0007	4.258e-05	3.888e-05	0.0002	0.0001	2.987e-05	0.0001	0.0006	5.038e-05	0	0.0007	3.957e-05	3.311e-05	2.319e-05	7.881e-05	7.874e-05	6.426e-05	9.4e-05	0.0003	4.494e-05	3.51e-05	8.872e-05	5.283e-05	2.407e-05	0	0.0003	0.0006	0	0	0	7.35e-05	0	0	0.259	0.16628	T	0.218	0.39190	T	0.0	0.02946	B	0.001	0.06944	B	0.000360	0.45440	N	0.218241	0.999383	0.21275	N	0.53	0.13656	N	2.69	0.12268	T	-0.54	0.17834	N	0.196	0.22998	-1.0104	0.26791	T	0.022	0.09375	T	10	0.04282406	0.03069	T	0.005294	0.13525	T	0.067	0.19503	.	.	0.130388298395	0.12655	0.13949378999332188	0.13872	0.67202664392	0.59506	0.369704216719	0.20789	T	0.032679	0.22592	T	-0.478983	0.00750	T	-0.670756	0.07560	T	0.0139188813045621	0.00266	T	0.759024	0.38317	T	0.06884654	0.15034	0.07658295	0.16976	0.06884654	0.15033	0.07658295	0.16976	-5.528	0.42425	T	.	.	0.071	0.06341	B	.;.;.	.;.;.	0.468502	0.08381	5.135	0.61377622545606569	0.06694	0.28081	0.23456	N	AEFBI	0.083047	0.16822	N	-1.01296947841192	0.08334	0.3904035	-0.996641043716775	0.09860	0.4930702	0.991027946851516	0.32347	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	-2.46	0.06089	0.774000	0.26337	-0.246000	0.10547	-0.119000	0.14319	0.484000	0.26832	0.000000	0.08366	0.936000	0.47498	0.0:0.3741:0.0:0.6259	11.243	0.48209	987	0.02648	SET domain|SET domain;.;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1325.98	33	chr14	99458347	.	T	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-4.750e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1340,0,1446	20	0	1	0
chr14	100381057	100381057	C	T	exonic	WDR25	.	nonsynonymous SNV	WDR25:NM_001161476:exon2:c.C133T:p.P45S	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.004	B	0.155	N	1.000	N	0.97	L	2.31	T	-1.058	T	0.101	T	0.114	1.093	9.459	1.31	0.678	-0.379	3.142	0.041	0.00982125296958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.15149	T	0.313	0.19782	T	0.005	0.12996	B	0.004	0.10090	B	0.155084	0.17841	N	0.513759	1	0.08975	N	1.095	0.27400	L	0.32	0.58468	T	-0.76	0.33798	N	0.087	0.06454	-1.0582	0.12209	T	0.101	0.37493	T	10	0.06455743	0.08579	T	0.009821	0.25608	T	0.041	0.10877	0.33	0.31519	0.204665344411	0.20097	0.10467035544940352	0.10397	0.0543178648158	0.06005	0.218153387308	0.01205	T	0.002194	0.01594	T	-0.227099	0.17035	T	-0.563989	0.16004	T	0.0364569388329983	0.03060	T	0.640436	0.25296	T	0.022835113	0.00976	0.023125151	0.00328	0.022835113	0.00975	0.023125151	0.00328	-3.245	0.13038	T	.	.	0.069	0.14477	B	.;.;.;.	.;.;.;.	-0.059965	0.03885	0.849	0.649461334380807	0.07634	0.05482	0.11366	N	AEFBI	0.079670	0.16095	N	-0.890558123708206	0.11066	0.5320731	-0.902422674377265	0.12037	0.6168691	0.999661052992717	0.41534	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.53	1.31	0.20837	-0.317000	0.08101	0.272000	0.16669	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1687:0.4018:0.3329:0.0966	3.142	0.06071	932	0.16191	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1566.98	36	chr14	100381057	.	C	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=824;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.474;SOR=1.020	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1581,0,1765	20	0	1	0
chr14	102084824	102084826	TCT	-	exonic	HSP90AA1	.	nonframeshift deletion	HSP90AA1:NM_005348:exon5:c.836_838del:p.K279del	.	.	0	223	3	0	0	3	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.731e-05	0.0007	0.0001	0	7.636e-05	0	0.0002	0.0001423	22	154602	rs755646384	0.0018	0.0092	0.0019	0.0017	0.0030	0.0017	0.0017	0.0025	0.0023	0.0021	0.0029	0.0007	0.0006	0.0002	0.0030	0.0019	0.0015	0.0008	0.0008	0.0009	0.0009	0.0007	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0013	0.0003	0.0010	0.0003	0.0102	0.0004	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12086.07	40	chr14	102084823	.	ATCT	A	12086.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.506;DP=1897;ExcessHet=0.1072;FS=1.123;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.79;MQRankSum=-7.964e+00;QD=19.09;ReadPosRankSum=0.013;SOR=0.802	GT:AD:DP:GQ:PL	0/1:141,137:278:99:5276,0,5439	19	0	2	0
chr14	104175415	104175415	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2627A:p.R876Q,	.	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.27	B	0.01	B	.	.	1.000	N	1.155	L	-1.19	T	-0.862	T	0.190	T	0.164	2.540	14.45	1.99	0.761	0.905	5.902	0.086	.	0.0018	0.00199681	0.0036	0.0004	0.0016	0	0.0116	0.0041	0.0054	0.0040	0.0024644	381	154602	rs138557973	0.0025	0.0025	0.0024	0.0025	0.0039	0.0024	0.0024	0.0035	0.0034	0.0003	0.0012	0.0071	0.0002	0.0101	0.0037	0.0022	0.0022	0.0039	0.0026	0.0026	0.0021	0.0031	0.0027	0.0024	0.0023	0.0021	0.0020	0.0004	0	0.0024	0.0075	0.0002	0.0118	0	0.0024	0.0038	0.0027	0.076	0.34269	T	0.317	0.19304	T	0.27	0.31762	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.2	0.78537	T	-1.23	0.31170	N	0.162	0.17691	-0.8617	0.51140	T	0.190	0.54108	T	9	0.007402867	0.00168	T	.	.	.	0.086	0.25016	.	.	0.900429547486	0.89943	0.1674360589524765	0.16663	0.160506886799	0.18112	0.576956987381	0.49656	T	0.010119	0.09163	T	-0.395158	0.02490	T	-0.342183	0.40098	T	0.0111673446678968	0.00163	T	0.818018	0.47523	T	0.10000399	0.23607	0.070173934	0.14876	0.10000399	0.23606	0.070173934	0.14876	-4.423	0.29867	T	.	.	0.089	0.12181	B	.;.	.;.	2.399434	0.30823	18.56	0.9950725035089415	0.68381	0.10959	0.16311	N	AEFBI	0.052566	0.09393	N	-0.585910117310267	0.19372	1.013331	-0.608509071694544	0.19275	1.033391	0.831840926990104	0.24707	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.9	1.99	0.25423	1.014000	0.29553	3.128000	0.36429	0.672000	0.70159	0.529000	0.27181	1.000000	0.68203	0.006000	0.07323	0.3946:0.0:0.6054:0.0	5.902	0.18217	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	0	0	0	1	0	0	0	0.02381	2175.98	102	chr14	104175415	.	G	A	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1547;ExcessHet=0.0000;FS=2.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.447;SOR=0.809	GT:AD:DP:GQ:PL	0/1:69,81:150:99:2190,0,1622	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,102,0:281:99:0|1:104946204_C_T:3696,0,7172,4235,7479,11714:104946204	1	7	12	0
chr14	104948100	104948100	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7051A:p.V2351M	.	.	421	1094	7	0	0	7	0.00318907	.	.	3255254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	.	.	1.000	N	2.785	M	5.47	T	-1.035	T	0.014	T	0.248	2.306	13.67	2.69	0.502	3.376	8.290	0.114	0.00285096630079	.	.	0.0001	0	0	0	0	3e-05	0	0.0007	9.06e-05	14	154602	rs763347153	7.322e-05	7.319e-05	4.63e-05	0.0001	0.0010	6.183e-05	5.743e-05	0.0006	0.0005	0	0	0	0	0	0.0010	2.878e-05	0.0001	0.0007	3.301e-05	3.288e-05	1.29e-05	5.408e-05	0.0006	1.265e-05	8.01e-06	0.0002	9.04e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0006	0.258	0.16683	T	0.066	0.44501	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.585	0.75554	M	5.47	0.00949	T	-1.2	0.30555	N	0.218	0.24385	-1.0348	0.18920	T	0.014	0.05465	T	9	0.052267104	0.05235	T	0.002851	0.05986	T	0.114	0.32008	0.302	0.27003	0.0482279557977	0.04254	0.004691695044407868	0.00442	.	.	0.253647685051	0.04162	T	0.070382	0.33946	T	-0.470743	0.00841	T	-0.542881	0.18014	T	0.176427513360977	0.19007	T	0.628837	0.24395	T	0.017276715	0.00260	0.038179483	0.03631	0.017276715	0.00259	0.038179483	0.03631	-7.235	0.55732	T	.	.	0.169	0.37083	B	.	.	1.322575	0.17269	13.06	0.9952701975749213	0.69591	0.15356	0.18871	N	AEFBI	.	.	.	-0.172060476729889	0.34301	1.956	-0.434579438480112	0.23990	1.311206	2.2091291054767E-4	0.05997	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.59	2.69	0.30923	1.641000	0.36812	-5.595000	0.01662	-0.241000	0.07509	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.0:0.6607:0.2458:0.0935	8.290	0.31115	982	0.03397	.	.	.	.	.	.	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	0.02381	4878.98	299	chr14	104948100	.	C	T	4878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.30;DP=6706;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.171e+00;QD=11.37;ReadPosRankSum=-1.287e+00;SOR=0.639	GT:AD:DP:GQ:PL	0/1:249,180:429:99:4893,0,6699	20	0	1	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D	.	.	425	1066	31	0	0	31	0.0143319	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	1.000	N	-2.025	N	6.56	T	-0.967	T	0.000	T	0.053	-2.709	0	-7.22	-2.709	0.762	3.667	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	607.98	72	chr14	104952976	.	C	A	607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.714e+00;DP=3901;ExcessHet=0.0000;FS=2.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.88;MQRankSum=-2.384e+01;QD=0.76;ReadPosRankSum=1.02;SOR=0.716	GT:AD:DP:GQ:PL	0/1:679,118:797:99:622,0,18679	20	0	1	0
chr14	104953278	104953278	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1873A:p.V625I	.	.	.	.	.	.	.	.	.	.	.	2296489	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.015	B	0.003	B	.	.	1.000	N	-0.47	N	5.96	T	-0.938	T	0.001	T	0.031	-1.017	0.236	-4.76	-1.567	-1.152	10.472	0.025	0.00941189040353	.	.	9.946e-05	0.0002	0	0	0	3e-05	0	0.0005	3.84e-05	1	26028	rs375468649	3.627e-05	5.267e-05	3.405e-05	3.852e-05	0.0005	2.829e-05	2.566e-05	0.0003	0.0003	0.0005	4.474e-05	0	2.519e-05	0	0.0003	1.799e-05	3.316e-05	0.0001	9.999e-05	0.0002	9.132e-05	0.0001	0.0003	6.092e-05	4.947e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	2.962e-05	0.0005	0.0002	0.851	0.02732	T	1.0	0.01155	T	0.015	0.17086	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.96	0.00610	T	-0.18	0.09796	N	0.089	0.06720	-0.9383	0.42885	T	0.001	0.00378	T	9	0.020899057	0.00490	T	0.009412	0.24670	T	0.025	0.05312	.	.	0.0138822411134	0.00435	0.008896432539158694	0.00852	.	.	0.270536154509	0.06211	T	0.016657	0.13724	T	-0.603014	0.00140	T	-0.867296	0.00768	T	0.0116639148668008	0.00178	T	0.311269	0.06060	T	0.008288388	0.00000	0.023823082	0.00396	0.008288388	0.00000	0.023823082	0.00396	-0.623	0.00664	T	.	.	0.059	0.00754	B	.	.	-1.295352	0.00442	0.009	0.27796567708372738	0.01397	0.00202	0.01159	N	AEFBI	.	.	.	-1.7028697703017	0.00832	0.03596444	-1.77038044117227	0.00859	0.03837704	0.00113328056741813	0.08261	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.91	-4.76	0.02994	-4.778000	0.00217	-11.689000	0.00583	-1.443000	0.01102	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4829:0.0:0.5171	10.472	0.43828	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	6049.98	72	chr14	104953278	.	C	T	6049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=2448;ExcessHet=0.0000;FS=0.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-1.276e+00;QD=15.28;ReadPosRankSum=0.544;SOR=0.733	GT:AD:DP:GQ:PL	0/1:178,218:396:99:6064,0,4476	20	0	1	0
chr14	105055417	105055417	A	G	exonic	GPR132	.	nonsynonymous SNV	GPR132:NM_013345:exon3:c.T4C:p.C2R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.182	B	0.019	B	0.000	U	1.000	N	0	N	1.34	T	-1.085	T	0.042	T	0.304	-1.315	0.034	-0.838	-0.740	-0.169	.	0.030	0.00680714994305	0.0002	.	4.944e-05	0	0	0	0	5.995e-05	0	0.0001	3.88e-05	6	154602	rs143845743	3.022e-05	3.34e-05	2.446e-05	3.504e-05	0.0005	1.932e-05	1.557e-05	8.497e-05	3.539e-05	0	0	0	0	0	0.0005	2.857e-05	0	0.0001	1.314e-05	1.313e-05	1.284e-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	0.016	0.51853	D	0.041	0.50514	D	0.182	0.29148	B	0.019	0.18783	B	0.000071	0.00414	U	183.018000	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	0.26	0.99623	N	0.268	0.30347	-1.0846	0.06480	T	0.042	0.18243	T	9	0.19615558	0.35495	T	0.006807	0.18010	T	0.030	0.07022	.	.	0.273503213844	0.26977	0.5979190920327322	0.59722	0.788710189345	0.65656	0.45506966114	0.32636	T	0.157466	0.50008	T	-0.345143	0.05039	T	-0.496882	0.22672	T	0.0405103992290852	0.03783	T	0.183282	0.01882	T	0.35600376	0.57530	0.29929122	0.55962	0.35600376	0.57531	0.29929122	0.55961	-2.499	0.05774	T	.	.	0.127	0.26947	B	.;.;.	.;.;.	0.878163	0.12511	9.043	0.18210553696064344	0.00563	0.00770	0.03176	N	AEFBHCI	0.061989	0.11887	N	-1.30588199233667	0.03607	0.1614305	-1.42509723720676	0.03003	0.1392583	0.999854925903717	0.44174	0.67177	0.52595	0	0.702456	0.74545	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	0.419	-0.838	0.10218	-0.149000	0.10189	-1.334000	0.05689	0.550000	0.28109	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2269.98	33	chr14	105055417	.	A	G	2269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.586;DP=914;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.395;SOR=0.716	GT:AD:DP:GQ:PL	0/1:111,100:211:99:2284,0,2594	20	0	1	0
chr14	105146471	105146471	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon21:c.C2509T:p.R837W	.	.	415	1105	2	0	0	2	0.000904159	.	.	3212332	JAG2-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.707	P	0.378	N	1.000	N	1.1	L	-2.14	D	-0.244	T	0.586	D	0.194	2.419	14.05	4.43	2.002	1.361	10.271	0.262	0.339326556561	.	.	0.0002	9.923e-05	8.672e-05	0	0	1.54e-05	0	0.0012	0.0001488	23	154602	rs764784118	0.0001	0.0001	6.404e-05	0.0002	0.0018	0.0001	9.909e-05	0.0016	0.0015	5.975e-05	2.236e-05	0	0	0	0.0002	8.994e-06	9.939e-05	0.0018	3.942e-05	3.94e-05	1.284e-05	6.726e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0.0004	0.015	0.52492	D	0.017	0.60337	D	0.994	0.70673	D	0.513	0.54387	P	0.378069	0.13429	N	0.711686	0.999993	0.08975	N	1.78	0.46185	L	-2.14	0.86415	D	-3.81	0.71882	D	0.345	0.38643	-0.2443	0.76513	T	0.586	0.85127	D	10	0.09262708	0.16326	T	0.339327	0.91971	D	0.262	0.57482	.	.	0.560968441767	0.55758	0.49239059457074763	0.49160	0.582582740408	0.54013	0.235891759396	0.02432	T	0.726423	0.92308	D	-0.330435	0.06080	T	-0.272051	0.47611	T	0.154300095333118	0.17441	T	0.611639	0.34191	T	0.11047998	0.26113	0.10720317	0.25803	0.11047998	0.26113	0.10720317	0.25803	-10.261	0.77037	D	.	.	0.084	0.14706	B	.;.	.;.	4.014515	0.59245	24.1	0.99894729204144783	0.96819	0.18195	0.20159	N	AEFDGBI	0.409618	0.48082	N	-0.0247450052588098	0.40737	2.424403	-0.10692569971223	0.35109	2.02742	0.999386504411615	0.39415	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	1.485000	0.35127	2.473000	0.32905	0.614000	0.49286	0.007000	0.17678	0.187000	0.23467	0.340000	0.25432	0.0:0.0:0.6767:0.3233	10.271	0.42662	982	0.03397	VWFC domain|VWFC domain|VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2849.98	35	chr14	105146471	.	G	A	2849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.171;SOR=0.727	GT:AD:DP:GQ:PL	0/1:93,107:200:99:2864,0,2240	20	0	1	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,7:38:99:.:.:215,308,1586,0,1278,1240	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7,0:38:99:.:.:215,0,1240,308,1278,1586	5	0	10	2
chr15	20534803	20534823	TCCTCCTGCTCCTGCCTCTTC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1611_1631del:p.E537_E543del,	.	.	528	989	5	0	0	5	0.00252143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0	0	0	0	0.0023	0	0.0019	0.0001552	24	154602	rs774371640	0.0011	0.0007	0.0009	0.0013	0.0126	0.0010	0.0010	0.0087	0.0074	0.0004	0.0015	0.0054	0	0	0.0126	0.0008	0.0020	0.0036	0.0025	0.0023	0.0022	0.0028	0.0036	0.0020	0.0018	0.0027	0.0024	0.0004	0	0.0022	0.0093	0	0	0.0208	0.0036	0.0042	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	238.72	25	chr15	20534802	.	ATCCTCCTGCTCCTGCCTCTTC	A	238.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.470e-01;DP=512;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=-0.0521;MLEAC=1;MLEAF=0.026;MQ=45.46;MQRankSum=-1.594e+00;QD=11.37;ReadPosRankSum=-3.090e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:14,7:21:99:252,0,538	18	0	1	2
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D,	.	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.915	D	0.000	D	0.870	N	3.665	H	4.43	T	-1.122	T	0.018	T	0.088	2.889	15.62	2.5	1.167	5.303	8.582	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	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	1867.53	14	chr15	22080637	.	A	G	1867.53	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.106;DP=478;ExcessHet=0.0113;FS=0.000;InbreedingCoeff=0.3866;MLEAC=5;MLEAF=0.139;MQ=33.98;MQRankSum=1.58;QD=13.73;ReadPosRankSum=0.310;SOR=0.487	GT:AD:DP:GQ:PL	1/1:0,20:20:60:768,60,0	15	1	2	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	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	.	.	.	.	.	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	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,121:121:99:4008,363,0	1	16	3	1
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	314.45	2	chr15	22768302	.	T	G,TCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCG,*	314.45	.	AC=1,3,4;AF=0.029,0.088,0.118;AN=34;BaseQRankSum=0.967;DP=71;ExcessHet=0.0602;FS=1.808;InbreedingCoeff=0.2297;MLEAC=1,3,4;MLEAF=0.029,0.088,0.118;MQ=50.65;MQRankSum=-5.240e-01;QD=12.58;ReadPosRankSum=-1.282e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,4,0:4:12:.:.:167,167,167,12,12,0,167,167,12,167	11	0	1	4
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,0,55:96:99:.:.:2089,2213,3877,0,1665,1497	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,55,0:96:99:.:.:2089,0,1497,2213,1665,3877	11	0	6	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,100,76:176:99:.:.:6706,2708,2900,4076,0,3842	0	0	2	0
chr15	30092070	30092070	G	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon15:c.G1305C:p.E435D,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	.	.	-2.66	D	-0.371	T	0.550	D	0.16	0.217	5.172	0.421	0.157	1.148	1.834	0.130	0.0255764314618	.	.	0.0027	0.0010	0.0037	0.0012	0.0019	0.0036	0	0.0014	9.7e-05	15	154602	rs560259389	0.0023	0.0025	0.0024	0.0023	0.0027	0.0023	0.0022	0.0026	0.0025	0.0006	0.0015	3.862e-05	0.0008	0.0014	0.0009	0.0027	0.0023	0.0011	0.0020	0.0023	0.0020	0.0020	0.0030	0.0018	0.0017	0.0026	0.0025	0.0007	0.0023	0.0028	0	0.0006	0.0011	0	0.0030	0.0025	0.0011	0.319	0.13610	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.16	0.60381	M	-2.6	0.89888	D	-1.44	0.35399	N	0.185	0.20129	-0.3712	0.72925	T	0.550	0.83508	D	6	0.01218906	0.00263	T	0.025576	0.48542	D	.	.	.	.	0.635344329144	0.63235	0.0841374263308183	0.08347	1.58952772393	0.88501	.	.	.	0.013322	0.11547	T	-0.36152	0.04045	T	-0.295125	0.45236	T	0.0070726445581003	0.00081	T	.	.	.	0.056186486	0.11020	0.048403718	0.07183	0.056186486	0.11020	0.048403718	0.07183	-3.558	0.17253	T	.	.	0.133	0.28892	B	.	.	1.457245	0.18793	13.93	0.94017185771196188	0.24123	0.15391	0.18889	N	AEFI	0.066944	0.13135	N	-0.562171036050756	0.20103	1.057348	-0.74509489759243	0.15842	0.8352344	1.75589563991285E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.44	0.421	0.15669	1.456000	0.34811	0.083000	0.14415	0.200000	0.17917	0.483000	0.26824	0.001000	0.17328	0.048000	0.15020	0.2373:0.0:0.441:0.3217	1.834	0.02947	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	184.33	33	chr15	30092070	.	G	C	184.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.830e-01;DP=673;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.63;MQRankSum=-1.067e+00;QD=4.10;ReadPosRankSum=-2.128e+00;SOR=1.270	GT:AD:DP:GQ:PL	0/1:34,11:45:99:198,0,872	19	0	1	1
chr15	30920573	30920573	C	T	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_014967:exon7:c.C1972T:p.R658W,	Interstitial nephritis, karyomegalic, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	0.94	T	-0.393	T	0.300	T	0.887	4.119	21.2	4.92	2.790	3.636	14.490	0.398	0.0872487289573	0.0002	.	5.766e-05	0	0	0	0	8.991e-05	0	6.057e-05	6.47e-05	10	154602	rs140501687	4.8e-05	4.857e-05	4.912e-05	4.687e-05	0.0002	3.869e-05	3.549e-05	7.194e-05	5.533e-05	0	0.0001	0	0	0	0.0002	4.323e-05	6.638e-05	0.0001	4.603e-05	4.598e-05	1.286e-05	8.077e-05	0.0003	2.111e-05	1.528e-05	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	2.941e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	0.94	0.43672	T	-6.04	0.89759	D	0.782	0.77883	-0.3928	0.72253	T	0.300	0.67083	T	10	0.84758985	0.83928	D	0.087249	0.74898	D	0.398	0.71242	.	.	0.615448732319	0.61234	0.85368994730734	0.85330	0.504584776832	0.48730	0.638150155544	0.58300	T	0.29599	0.66863	T	0.0527892	0.58701	T	0.10248	0.77074	D	0.813649713993073	0.47308	D	0.959104	0.84591	D	0.824213	0.85505	0.49477777	0.70781	0.824213	0.85507	0.49477777	0.70781	-9.311	0.69676	D	.	.	0.480	0.63637	A	.	.	4.831108	0.78788	27.0	0.99928375846288819	0.99222	0.96967	0.71926	D	AEFBI	0.645111	0.62112	D	0.781251275264688	0.84921	8.424376	0.720321879852031	0.83922	8.150523	0.999998591303864	0.74766	0.732398	0.92422	0	0.71359	0.82159	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.89	4.92	0.64147	3.725000	0.54697	3.176000	0.36634	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.2492:0.7508:0.0:0.0	14.490	0.67226	830	0.39242	.	.	.	.	.	.	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	0.02381	825.98	56	chr15	30920573	.	C	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=854;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-1.949e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/1:63,40:103:99:840,0,1453	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:1,53,26:80:99:2592,636,538,1544,0,1354	0	10	0	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:40356171_T_C:1832,126,0,1832,126,1832:40356171	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:40356171_T_C:1508,111,0,1508,111,1508:40356171	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,0:41:99:1|1:40356171_T_C:1467,108,0,1467,108,1467:40356171	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,0:41:99:1|1:40356171_T_C:1467,108,0,1467,108,1467:40356171	10	1	4	4
chr15	41999528	41999528	G	A	exonic	PLA2G4E	.	nonsynonymous SNV	PLA2G4E:NM_001206670:exon10:c.C970T:p.P324S,	.	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.002	B	0.737	U	0.999	N	0.2	N	5.06	T	-0.917	T	0.003	T	0.12	-0.304	2.552	1.64	0.123	0.346	6.101	0.019	.	0.0010	0.00239617	0.0018	0.0006	0.0002	0	0	0.0013	0	0.0075	0.0015588	241	154602	rs199592236	0.0014	0.0014	0.0013	0.0016	0.0081	0.0014	0.0014	0.0076	0.0074	0.0003	0.0003	0.0009	0	7.492e-05	0.0054	0.0011	0.0013	0.0081	0.0009	0.0009	0.0009	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0002	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.727	0.03846	T	0.721	0.05327	T	.	.	.	.	.	.	0.737017	0.06405	U	1.191370	0.998502	0.22111	N	.	.	.	5.06	0.01260	T	0.38	0.03579	N	0.17	0.18103	-0.9171	0.45945	T	0.003	0.01026	T	10	0.006403029	0.00145	T	.	.	.	0.019	0.03383	.	.	0.0884992946249	0.08302	0.2160321391707353	0.21519	0.144424200517	0.16313	0.294196277857	0.09538	T	.	.	.	-0.665137	0.00059	T	-0.724195	0.04596	T	0.00342355871518212	0.00036	T	0.366163	0.08539	T	0.026095727	0.01624	0.040079515	0.04250	0.026095727	0.01624	0.040079515	0.04249	-1.594	0.01968	T	.	.	0.075	0.05668	B	.	.	0.626142	0.09948	6.703	0.77812483497194751	0.12032	0.37367	0.25745	N	AEFDGBI	0.128262	0.24597	N	-0.891761286924115	0.11037	0.5305339	-0.729135089223933	0.16237	0.8579876	0.235967472898069	0.18518	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.73	1.64	0.22949	0.252000	0.18046	1.608000	0.27620	-0.669000	0.04307	0.750000	0.29133	0.925000	0.28409	0.897000	0.43391	0.0:0.3552:0.3522:0.2926	6.101	0.19268	63	0.97314	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	786.98	33	chr15	41999528	.	G	A	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.117e+00;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-6.430e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:32,33:65:99:801,0,858	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:230,255,0:485:99:.:.:5633,0,5836,6322,6549,12871	9	2	9	0
chr15	43604716	43604716	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon20:c.G4061T:p.G1354V,	Deafness, autosomal recessive 16, Autosomal recessive	.	2	1516	3	1	0	5	0.00164636	.	.	2296740	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.892	P	0.472	P	0.125	N	1.000	D	0.55	N	-1.08	T	-0.808	T	0.236	T	0.39	2.760	15.19	0.633	0.269	-0.650	4.912	0.309	0.0704137426165	.	.	3.308e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771060490	2.805e-05	2.805e-05	1.634e-05	3.989e-05	0.0005	2.087e-05	1.879e-05	0.0003	0.0002	0	0	0	0	0	0.0005	4.497e-06	1.657e-05	0.0004	6.578e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.008	0.69154	D	0.587	0.49086	P	0.262	0.46817	B	0.124604	0.18874	N	0.492562	1	0.81001	D	0.805	0.20218	L	-1.08	0.77078	T	-2.21	0.49684	N	0.223	0.26837	-0.8082	0.54659	T	0.236	0.60367	T	10	0.16108888	0.30224	T	0.070414	0.70995	D	0.309	0.63055	0.473	0.54859	0.798305706921	0.79642	0.22922459739210208	0.22837	.	.	0.311858266592	0.12188	T	0.115251	0.43369	T	-0.255814	0.13394	T	-0.300688	0.44653	T	0.195391493541677	0.20157	T	0.748625	0.36937	T	0.120724045	0.28402	0.1364207	0.32637	0.120724045	0.28402	0.1364207	0.32636	-5.079	0.37685	T	0.4086042323139703	0.49928	0.122	0.25462	B	.;.	.;.	1.923058	0.24423	16.39	0.99290732892119993	0.58255	0.26043	0.22878	N	AEFGBI	0.215594	0.34093	N	-0.440965277252301	0.24046	1.295714	-0.415951269831105	0.24529	1.343693	5.88492101248948E-5	0.04171	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.07	0.633	0.16883	-0.486000	0.06593	0.093000	0.14542	-0.891000	0.02386	0.572000	0.27522	0.153000	0.23196	0.755000	0.35964	0.0:0.3504:0.4326:0.2169	4.912	0.13183	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1614.98	34	chr15	43604716	.	C	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=865;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.28;MQRankSum=-2.621e+00;QD=12.52;ReadPosRankSum=-1.040e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1629,0,1551	20	0	1	0
chr15	49575010	49575010	C	A	splicing	FAM227B	NM_152647:exon8:c.645+1G>T;NM_001330293:exon8:c.645+1G>T	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.029	9.204	4.73	2.473	4.135	14.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263123023	2.858e-06	6.844e-06	1.426e-06	4.296e-06	3.737e-06	6.7e-07	4.5e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.737e-06	0	0	1.316e-05	1.314e-05	2.573e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185459	0.72544	D	0.0286226	0.72188	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.211148	0.63621	24.6	0.98417744408023722	0.41244	0.89014	0.49232	D	AEFI	.	.	.	0.861113205350677	0.89732	10.094	0.642340953352197	0.78042	6.797168	0.433826154236561	0.20395	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.101684	0.03063	0	0.950727	0.62029	4.73	4.73	0.59485	2.867000	0.48126	5.795000	0.49897	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	14.743	0.69084	269	0.89438	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	277.98	33	chr15	49575010	.	C	A	277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-4.270e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:11,11:22:99:292,0,252	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	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	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:91,45:136:99:108,0,1981	4	0	13	4
chr15	51724938	51724938	C	T	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_001143917:exon2:c.G184A:p.G62R	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.018	B	0.004	B	0.244	N	1.000	N	1.355	L	1.46	T	-1.046	T	0.056	T	0.046	0.397	6.155	1.72	0.173	1.705	6.984	0.042	0.00524064398447	0.0073	0.00339457	0.0055	0.0014	0.0029	0.0003	0.0008	0.0086	0.0011	0.0021	0.0057179	884	154602	rs138439412	0.0080	0.0080	0.0080	0.0079	0.0090	0.0079	0.0078	0.0088	0.0088	0.0010	0.0038	0.0258	0.0001	0.0013	0.0026	0.0090	0.0084	0.0025	0.0056	0.0056	0.0062	0.0049	0.0081	0.0052	0.0051	0.0075	0.0073	0.0017	0.0055	0.0062	0.0236	0.0002	0.0013	0	0.0081	0.0066	0.0025	0.423	0.22573	T	0.525	0.16865	T	0.018	0.17786	B	0.004	0.10090	B	0.243666	0.03600	N	1.443250	1	0.08975	N	1.155	0.29575	L	1.4	0.42122	T	-1.62	0.58085	N	0.082	0.07949	-1.0465	0.15389	T	0.056	0.23677	T	10	0.0031895638	0.00054	T	0.005241	0.13371	T	0.042	0.11227	0.305	0.27485	0.362758974969	0.35886	0.17948963885269326	0.17867	0.146231735787	0.16512	0.200983867049	0.00486	T	6.59E-4	0.00285	T	-0.64404	0.00079	T	-0.691073	0.06327	T	0.00286071943286836	0.00030	T	0.641836	0.29365	T	0.041086152	0.05984	0.056221467	0.10006	0.041086152	0.05984	0.056221467	0.10006	-3.339	0.17467	T	.	.	0.072	0.14933	B	.;.;.;.	.;.;.;.	1.234578	0.16299	12.45	0.61355466062863984	0.06688	0.51693	0.28955	D	AEFDBHI	0.182783	0.31011	N	-0.788265873553229	0.13615	0.6720113	-0.741257619712859	0.15938	0.840687	0.999977409856512	0.50053	0.645754	0.44609	0	0.696144	0.67643	0	0.608524	0.38960	0	0.704051	0.69138	0	.	.	4.91	1.72	0.23498	1.274000	0.32736	0.230000	0.16179	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.876000	0.41813	0.0:0.4926:0.3234:0.184	6.984	0.23899	283	0.88803	.;.;.;.	.	.	.	.	rs138439412	Likely benign	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	0.02381	1261.98	33	chr15	51724938	.	C	T	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=782;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=1.61;SOR=0.666	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1276,0,1004	20	0	1	0
chr15	64418675	64418675	G	C	exonic	TRIP4	.	nonsynonymous SNV	TRIP4:NM_001321924:exon9:c.G615C:p.W205C	Spinal muscular atrophy with congenital bone fractures 1, Autosomal recessive	.	428	1085	7	2	0	11	0.00504356	.	.	1233174	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.985	D	0.000	D	1.000	D	1.59	L	.	.	-0.501	T	0.308	T	0.963	4.076	21.0	5.55	2.766	9.225	19.875	0.534	0.00939519432086	0.0006	0.000599042	0.0007	0.0002	0.0010	0	0.0002	0.0010	0	0.0005	0.0007244	112	154602	rs113596176	0.0007	0.0007	0.0007	0.0008	0.0089	0.0007	0.0007	0.0070	0.0063	0.0009	0.0009	0	0	0.0004	0.0089	0.0007	0.0013	0.0004	0.0005	0.0005	0.0004	0.0007	0.0009	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0009	0	0	9.43e-05	0.0170	0.0007	0.0009	0.0002	0.013	0.53900	D	0.105	0.38016	T	1.0	0.90584	D	0.985	0.76457	D	0.000001	0.62929	D	0.104089	1	0.81001	D	2.31	0.66127	M	.	.	.	-4.19	0.75615	D	0.89	0.88909	-0.5011	0.68610	T	0.308	0.67849	T	9	0.27495483	0.45051	T	0.009395	0.24623	T	0.534	0.80426	0.599	0.72984	0.468917363747	0.46519	0.8666267600449299	0.86627	0.496920850416	0.48186	0.647863566875	0.59683	T	0.241999	0.61064	T	0.154744	0.69712	D	0.393155	0.91888	D	0.0723479275712248	0.08977	T	0.969603	0.89085	D	0.3720213	0.58734	0.40773204	0.65110	0.3720213	0.58734	0.40773204	0.65110	-7.41	0.56975	T	0.2500082986602609	0.33841	0.401	0.59644	A	.	.	4.800037	0.77985	26.8	0.98771867930061519	0.45986	0.99566	0.97511	D	AEFGBI	0.909735	0.86674	D	0.810524841954283	0.86760	8.990074	0.82543732779469	0.91502	10.92018	0.999999999986292	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.321000	0.95528	8.655000	0.77949	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.875	0.96865	294	0.88270	.	.	.	.	.	.	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	0.02381	1350.98	40	chr15	64418675	.	G	C	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-7.850e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1365,0,1085	20	0	1	0
chr15	64819930	64819930	C	T	exonic	PIF1	.	nonsynonymous SNV	PIF1:NM_001286496:exon8:c.G1250A:p.R417Q	.	.	418	1101	3	0	0	3	0.00136054	.	.	3372399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.929	P	0.352	B	0.000	D	1.000	D	1.205	L	-1.0	T	-0.662	T	0.271	T	0.777	2.438	14.11	5.49	2.582	3.905	16.861	0.350	0.102994524641	0.0002	0.000599042	7.426e-05	0.0002	8.64e-05	0	0	3.003e-05	0	0.0002	7.76e-05	12	154602	rs369245790	4.857e-05	4.925e-05	4.22e-05	5.5e-05	0.0003	3.926e-05	3.605e-05	0.0002	0.0002	0.0001	4.472e-05	0	7.557e-05	0	0.0002	2.518e-05	6.623e-05	0.0003	8.534e-05	8.53e-05	0.0001	6.712e-05	0.0006	4.953e-05	3.959e-05	0.0002	8.996e-05	9.62e-05	0	6.533e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0006	0.323	0.13436	T	0.531	0.11407	T	0.929	0.51690	P	0.352	0.42883	B	0.000001	0.84330	D	0.053153	0.99997	0.53665	D	1.275	0.32135	L	-1.0	0.76037	T	-1.31	0.32791	N	0.541	0.57092	-0.6623	0.62175	T	0.271	0.64214	T	10	0.14539826	0.27580	T	0.102995	0.77679	D	0.350	0.67142	.	.	0.528461186488	0.52492	0.5293525468275075	0.52859	0.414400824624	0.42123	0.415295541286	0.27188	T	0.053061	0.29339	T	-0.0476133	0.44809	T	-0.00997733	0.69686	D	0.0760783180594444	0.09479	T	0.831417	0.49863	T	0.35527197	0.57474	0.23286264	0.48460	0.35527197	0.57475	0.23286264	0.48459	-6.746	0.52915	T	.	.	0.073	0.04517	B	.;.;.	.;.;.	3.270406	0.44761	22.0	0.9902767921879575	0.50721	0.96423	0.69066	D	AEFDGBI	0.618405	0.60422	D	0.126983658263072	0.47723	2.994154	0.174259787677857	0.48441	3.059974	0.999999999991757	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	3.973000	0.56552	1.020000	0.23398	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.230000	0.22734	0.0:1.0:0.0:0.0	16.861	0.85883	166	0.93555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	39	chr15	64819930	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=833;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.370;SOR=0.608	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1655,0,1395	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	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	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:83,28:111:47:47,0,2030	14	0	7	0
chr15	66563545	66563545	C	T	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon5:c.G451A:p.V151M,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	3.47	M	1.14	T	-0.210	T	0.331	T	0.918	5.142	32	5.67	2.689	7.355	18.757	0.534	0.0289400261699	0.0003	.	9.098e-05	0	0	0.0001	0	0.0001	0.0011	0	7.76e-05	12	154602	rs142935775	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0	0	0	0	0	0	0.0005	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0002	9.745e-05	8.259e-05	0.0002	0.0001	7.236e-05	0	0	0	0	0	0	0.0002	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000001	0.84330	D	0.053633	1	0.81001	D	3.48	0.92553	M	1.14	0.38397	T	-2.76	0.58569	D	0.86	0.85660	-0.2096	0.77424	T	0.331	0.69868	T	10	0.7987344	0.79308	D	0.02894	0.51534	D	0.534	0.80426	.	.	0.589192105058	0.58593	0.8516928581184365	0.85131	0.822855685538	0.67260	0.696313977242	0.66612	T	0.18956	0.54381	T	0.095936	0.63850	D	0.190172	0.82579	D	0.768963813781738	0.44377	D	0.988876	0.96221	D	0.76431406	0.81708	0.7380213	0.84515	0.76431406	0.81710	0.7380213	0.84516	-10.351	0.75986	D	.	.	0.356	0.56990	A	.	.	4.970803	0.82265	27.7	0.99905978434628451	0.97651	0.99455	0.96243	D	AEFDGBI	0.843453	0.76048	D	0.95127764229564	0.94036	12.45472	0.888066785451537	0.95032	13.25017	0.999999999999999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.633917	0.49826	0	.	.	5.67	5.67	0.87673	7.458000	0.79818	4.656000	0.44217	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	18.757	0.91801	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	698.98	34	chr15	66563545	.	C	T	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.511e+00;DP=727;ExcessHet=0.0000;FS=10.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=3.07;SOR=0.348	GT:AD:DP:GQ:PL	0/1:13,30:43:99:713,0,305	20	0	1	0
chr15	68311073	68311073	G	A	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon26:c.C3095T:p.T1032M,	.	.	.	.	.	.	.	.	.	.	.	2684729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.579	P	0.223	B	0.001	N	0.808	D	1.5	L	0.83	T	-0.875	T	0.110	T	0.415	2.004	12.66	4.03	1.208	1.502	11.649	0.106	0.0198617167551	.	.	8.297e-05	0	0	0	0	9.992e-05	0	0.0002	3.88e-05	6	154602	rs759923280	1.65e-05	1.847e-05	1.093e-05	2.213e-05	7.08e-05	1.116e-05	9.38e-06	3.039e-05	2.067e-05	0	0	0	0	0	0	1.624e-05	0	7.08e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.102	0.38450	T	0.579	0.38789	P	0.223	0.37929	B	0.001392	0.39175	N	0.279307	0.808448	0.34607	D	1.475	0.37068	L	0.81	0.48460	T	0.03	0.08340	N	0.36	0.40164	-0.8749	0.50158	T	0.110	0.39556	T	10	0.35351902	0.52156	T	0.019862	0.42327	T	0.106	0.30130	0.582	0.70861	0.767319904563	0.76519	0.5657626248781504	0.56504	0.130157849195	0.14680	0.40685069561	0.26021	T	0.062464	0.31924	T	-0.236213	0.15836	T	-0.393064	0.34193	T	0.180863916873932	0.19289	T	0.720928	0.38671	T	0.043577638	0.06815	0.085369945	0.19705	0.043577638	0.06814	0.085369945	0.19705	-5.982	0.46129	T	.	.	0.106	0.19679	B	.;.	.;.	1.943706	0.24691	16.49	0.99524212311624272	0.69469	0.77958	0.38394	D	AEFDGBI	0.268947	0.38533	N	-0.0668829531503265	0.38852	2.281926	-0.017331142677216	0.38931	2.300878	0.999999102445329	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.96	4.03	0.46115	1.610000	0.36480	4.408000	0.43271	0.676000	0.76740	0.945000	0.32849	0.999000	0.35428	0.241000	0.23027	0.0883:0.0:0.9117:0.0	11.649	0.50535	700	0.57880	.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1391.98	35	chr15	68311073	.	G	A	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=809;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.481;SOR=0.879	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1406,0,1072	20	0	1	0
chr15	71898076	71898076	G	C	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon25:c.C4427G:p.P1476R,	.	.	433	1033	53	3	0	59	0.0277647	.	.	703311	MYO9A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.571	P	0.206	B	.	.	1.000	N	0.345	N	-1.79	D	-0.773	T	0.202	T	0.316	0.703	7.752	3.0	0.810	3.124	6.833	0.138	.	0.0010	0.00898562	0.0044	0.0007	0.0011	0.0251	0	0.0011	0.0099	0.0130	0.0041138	636	154602	rs16956375	0.0024	0.0024	0.0020	0.0029	0.0274	0.0024	0.0024	0.0260	0.0255	0.0005	0.0008	0.0050	0.0274	1.873e-05	0.0210	0.0006	0.0053	0.0141	0.0021	0.0021	0.0019	0.0025	0.0257	0.0020	0.0019	0.0222	0.0208	0.0006	0	0.0008	0.0055	0.0257	0	0.0306	0.0007	0.0057	0.0141	0.005	0.63226	D	0.408	0.39340	T	0.047	0.21998	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.8	0.88767	D	-1.18	0.35597	N	0.1	0.11197	-0.7727	0.56709	T	0.202	0.55905	T	9	0.0030557215	0.00050	T	.	.	.	0.138	0.37187	.	.	0.158540857583	0.15491	0.26733313974931155	0.26646	0.106403839219	0.12028	0.22201526165	0.01430	T	0.016766	0.16317	T	-0.293858	0.09253	T	-0.175286	0.56958	T	0.0199499117669396	0.00696	T	0.768923	0.39853	T	0.060669936	0.12478	0.07894072	0.17728	0.036071613	0.04368	0.07383594	0.16088	-4.414	0.29746	T	.	.	0.092	0.23395	B	.;.;.;.	.;.;.;.	2.036404	0.25887	16.92	0.96495594025505538	0.30023	0.65211	0.32661	D	AEFGBI	0.135683	0.25610	N	-0.518906691549729	0.21468	1.13958	-0.464498217533983	0.23139	1.260332	0.514245987980211	0.21043	0.706548	0.73137	0	0.653731	0.59785	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.92	3.0	0.33773	4.144000	0.57825	5.633000	0.49123	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.964000	0.52637	0.2055:0.1305:0.6639:0.0	6.833	0.23103	921	0.19240	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2044.98	33	chr15	71898076	.	G	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.951e+00;DP=855;ExcessHet=0.0000;FS=1.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.125e+00;SOR=0.597	GT:AD:DP:GQ:PL	0/1:73,84:157:99:2059,0,1937	20	0	1	0
chr15	72345537	72345537	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1435A:p.A479T	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	1	1514	7	0	0	7	0.00230643	.	.	271317	not_provided|not_specified|Tay-Sachs_disease	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.981	D	0.000	D	1.000	D	4.1	H	-4.49	D	0.899	D	0.966	D	0.824	5.431	35	5.56	2.632	7.454	19.526	0.911	.	0.0005	0.00279553	0.0009	0.0006	8.715e-05	0.0091	0	7.517e-05	0.0011	0.0010	0.0008732	135	154602	rs145012038	0.0004	0.0004	0.0003	0.0005	0.0073	0.0004	0.0004	0.0066	0.0063	0.0001	4.472e-05	0	0.0073	0	0.0009	4.317e-05	0.0018	0.0015	0.0006	0.0006	0.0004	0.0007	0.0093	0.0005	0.0004	0.0072	0.0064	0.0003	0	6.533e-05	0	0.0093	0	0	8.818e-05	0.0028	0.0019	0.001	0.78490	D	0.029	0.54934	D	0.994	0.66517	D	0.909	0.64565	D	0.000003	0.62929	D	0.059591	1	0.81001	D	3.915	0.96218	H	-4.49	0.97628	D	-3.68	0.70314	D	0.75	0.75466	0.899	0.95659	D	0.966	0.98924	D	10	0.015963972	0.00335	T	.	.	.	0.911	0.97624	.	.	0.994792947779	0.99473	0.9593219065512474	0.95918	0.709207124474	0.61595	0.460467576981	0.33375	T	0.977385	0.99791	D	0.136687	0.68008	D	0.43296	0.93132	D	0.162026577394249	0.18020	T	0.975502	0.91380	D	0.7533883	0.81065	0.8311962	0.90262	0.8985642	0.91256	0.80602276	0.88649	-8.323	0.63250	D	0.6591750290042737	0.73240	0.393	0.59171	A	.;.;.	.;.;.	4.671647	0.74675	26.2	0.9993173088697902	0.99387	0.99755	0.99226	D	AEFGBI	0.930107	0.91691	D	1.03032789632224	0.96603	14.90106	0.940688147767042	0.97114	15.61088	0.999999999990603	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	7.557000	0.81197	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.526	0.95201	201	0.92177	Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain;Glycoside hydrolase family 20, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2224.98	34	chr15	72345537	.	C	T	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=1100;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.871;SOR=0.754	GT:AD:DP:GQ:PL	0/1:77,89:166:99:2239,0,1983	20	0	1	0
chr15	75207928	75207928	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.G1880A:p.G627D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.004	B	0.002	B	0.715	N	1.000	N	1.39	L	-1.41	T	-0.918	T	0.282	T	0.344	1.280	10.18	-0.873	-0.147	0.106	4.107	0.237	0.0176044258149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.07187	T	0.599	0.09052	T	0.004	0.12183	B	0.002	0.06944	B	0.715268	0.09980	N	0.826435	1	0.08975	N	1.935	0.51832	L	-1.41	0.80560	T	-0.01	0.07155	N	0.106	0.13626	-0.9183	0.45783	T	0.282	0.65369	T	10	0.05192557	0.05149	T	0.017604	0.39363	T	0.237	0.54074	0.143	0.04650	0.309278343525	0.30543	0.07123418737524992	0.07060	0.28209384682	0.30672	.	.	.	0.004437	0.03847	T	-0.0438486	0.45377	T	-0.300762	0.44644	T	0.0210446823358199	0.00805	T	0.554445	0.19192	T	0.033307157	0.03523	0.046002734	0.06317	0.033307157	0.03523	0.046002734	0.06316	-4.518	0.31123	T	.	.	0.096	0.30022	B	.;.;.	.;.;.	0.400711	0.07718	4.398	0.75096898954888902	0.10944	0.16869	0.19586	N	AEFDGBHCI	0.049966	0.08687	N	-1.00444461895767	0.08511	0.3993376	-1.06584744145167	0.08379	0.411776	0.999999738352018	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.89	-0.873	0.10096	0.005000	0.13029	-0.120000	0.11732	0.654000	0.53741	0.000000	0.06391	0.003000	0.18671	0.921000	0.45669	0.3268:0.335:0.3381:0.0	4.107	0.09513	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3074.98	41	chr15	75207928	.	G	A	3074.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.330e-01;DP=1003;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.186;SOR=0.602	GT:AD:DP:GQ:PL	0/1:104,120:224:99:3089,0,2592	20	0	1	0
chr15	76434100	76434100	T	G	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon26:c.A2551C:p.N851H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.663	P	0.218	B	0.000	D	0.913	N	0	N	1.96	T	-1.068	T	0.031	T	0.106	2.433	14.10	5.93	2.263	3.645	14.948	0.059	0.00593449347827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.098	0.44702	T	.	.	.	.	.	.	0.000257	0.46924	D	0.272836	0.912577	0.27474	N	0	0.06538	N	1.96	0.22270	T	-0.77	0.21429	N	0.165	0.17416	-1.0683	0.09791	T	0.031	0.13242	T	10	0.20319852	0.36466	T	0.005934	0.15460	T	0.059	0.16972	.	.	0.235038932564	0.23097	0.23355192463564528	0.23270	0.377667360134	0.39193	0.358874768019	0.19222	T	0.008118	0.07471	T	-0.25688	0.13267	T	-0.606767	0.12248	T	0.448350621001067	0.30737	T	0.836316	0.50742	T	0.1493486	0.34052	0.09722717	0.23135	0.1493486	0.34051	0.09722717	0.23135	-3.991	0.26795	T	.	.	0.104	0.18705	B	.;.;.	.;.;.	3.450589	0.48049	22.6	0.97654361215395935	0.35155	0.98236	0.80802	D	AEFDBI	0.632015	0.61278	D	0.0375394927629911	0.43569	2.647359	0.2381065270286	0.51974	3.375695	0.999999612162073	0.74766	0.638212	0.43195	0	0.624146	0.53433	0	0.616094	0.41390	0	0.668105	0.65232	0	.	.	5.93	5.93	0.95888	3.634000	0.54043	7.848000	0.70832	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.948	0.70694	598	0.68232	.;.;.	.	.	.	.	.	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	0.02381	1143.98	33	chr15	76434100	.	T	G	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=776;ExcessHet=0.0000;FS=0.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.013;SOR=0.903	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1158,0,1120	20	0	1	0
chr15	78766397	78766397	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3514T:p.P1172S,	.	.	516	1001	5	0	0	5	0.00249128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.941	D	0.046	N	0.979	N	2.19	M	0.27	T	-0.813	T	0.280	T	0.293	2.293	13.62	2.48	1.842	1.786	4.557	0.217	.	.	0.00119808	0.0016	0.0001	9.905e-05	0.0001	0	0.0005	0	0.0102	0.0011966	185	154602	rs534111913	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	3.007e-05	0.0002	0	0.0001	7.688e-05	0.0044	0.0002	0.0008	0.0082	0.0006	0.0006	0.0005	0.0006	0.0058	0.0005	0.0004	0.0041	0.0036	2.409e-05	0	0.0003	0	0.0002	9.441e-05	0.0102	0.0006	0.0019	0.0058	0.016	0.51853	D	0.402	0.14912	T	0.999	0.77913	D	0.941	0.67658	D	0.045506	0.23530	N	0.417665	0.978759	0.25227	N	1.845	0.48678	L	0.27	0.59176	T	-2.18	0.49187	N	0.091	0.06990	-0.8127	0.54387	T	0.280	0.65199	T	10	0.0049485266	0.00106	T	.	.	.	0.217	0.51112	.	.	0.575545942349	0.57224	0.521478241779319	0.52070	0.397283292821	0.40821	0.426085174084	0.28673	T	0.011308	0.10105	T	-0.433382	0.01415	T	-0.390735	0.34465	T	0.0198571186037904	0.00687	T	0.69603	0.30552	T	0.07532834	0.16965	0.07351539	0.15982	0.07532834	0.16965	0.07351539	0.15982	-4.719	0.33634	T	.	.	0.086	0.10594	B	.	.	2.867133	0.37901	20.6	0.99756715869698265	0.84694	0.69872	0.34361	D	AEFBI	0.094151	0.19040	N	0.357391490684132	0.59129	4.090048	0.233415795443442	0.51710	3.351313	0.00889488861517146	0.11760	0.743674	0.98306	0	0.547309	0.14657	0	0.630245	0.45026	0	0.562822	0.20929	0	.	.	3.42	2.48	0.29194	-0.054000	0.11783	3.145000	0.36500	0.509000	0.23192	0.000000	0.06391	0.986000	0.30841	0.211000	0.22211	0.2503:0.0:0.7497:0.0	4.557	0.11539	499	0.76092	.	.	.	.	.	.	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	0.02381	736.98	52	chr15	78766397	.	G	A	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=957;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.74;MQRankSum=-5.637e+00;QD=13.40;ReadPosRankSum=-2.350e-01;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:78766388_A_G:751,0,1281:78766388	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:55,4,22:84:99:330,508,2022,0,1211,1222	8	0	5	0
chr15	84604315	84604315	C	G	exonic	ZSCAN2	.	nonsynonymous SNV	ZSCAN2:NM_001007072:exon2:c.C388G:p.Q130E	.	.	.	.	.	.	.	.	.	.	.	2194481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.095	B	0.061	B	0.029	N	1.000	N	0.805	L	3.7	T	-1.008	T	0.011	T	0.226	1.832	12.08	4.66	2.644	0.826	13.364	0.093	0.00411414134265	.	.	8.545e-06	0	0	0	0	0	0	7.311e-05	6.5e-06	1	154602	rs760384430	6.855e-07	6.84e-07	0	1.378e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.38407	T	0.561	0.39645	T	0.001	0.25437	B	0.005	0.26820	B	0.029160	0.25496	N	0.280340	1	0.81001	D	0.905	0.23240	L	3.7	0.04079	T	-0.69	0.38734	N	0.301	0.46649	-1.0081	0.27510	T	0.011	0.03903	T	10	0.1273874	0.24224	T	0.004114	0.09838	T	0.093	0.26882	0.494	0.58206	0.353548585375	0.34966	0.08995194267019202	0.08928	0.0844159057736	0.09537	0.377982139587	0.21968	T	0.030115	0.21421	T	-0.290433	0.09593	T	-0.554333	0.16912	T	0.197766987841499	0.20292	T	0.740126	0.35895	T	0.15226696	0.34573	0.14052936	0.33496	0.15226696	0.34573	0.14052936	0.33495	-7.096	0.54732	T	.	.	0.071	0.18206	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.269328	0.44742	22.0	0.97088576183686026	0.32315	0.61993	0.31648	D	AEFDBCI	0.157544	0.28307	N	-0.279691612097088	0.29933	1.664434	-0.0601691055125524	0.37054	2.164401	0.999997307640835	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.635551	0.53088	0	.	.	5.63	4.66	0.57857	1.776000	0.38223	3.319000	0.37529	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.8278:0.1722:0.0	13.364	0.60112	685	0.59416	SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;.;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	490.98	33	chr15	84604315	.	C	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=732;ExcessHet=0.0000;FS=2.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.970;SOR=0.376	GT:AD:DP:GQ:PL	0/1:20,22:42:99:505,0,505	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	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	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:1,122,0:123:99:4081,358,0,4083,365,4090	0	11	9	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,39,0,0:86:99:1388,0,1594,1555,1725,3354,1555,1725,3354,3354	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,39,0,0:86:99:1388,0,1594,1555,1725,3354,1555,1725,3354,3354	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,39,0,0:86:99:1388,0,1594,1555,1725,3354,1555,1725,3354,3354	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,25,34:59:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2435,1303,1251,1038,0,945:89776889	0	0	0	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V,	.	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.002	B	0.681	N	1.000	N	0.435	N	2.02	T	-0.961	T	0.016	T	0.042	1.148	9.677	-5.16	-0.480	1.155	7.812	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	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	0.02381	1989.98	40	chr15	90360750	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=931;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.823;SOR=0.636	GT:AD:DP:GQ:PL	0/1:65,74:139:99:2004,0,1677	20	0	1	0
chr15	90763025	90763025	A	C	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon8:c.A1942C:p.S648R	Bloom syndrome, Autosomal recessive	.	14	1507	1	0	0	1	0.000331675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.012	B	0.143	N	1.000	N	0	N	-1.05	T	-0.882	T	0.193	T	0.165	1.886	12.26	0.458	0.071	0.585	8.265	0.149	0.0434530108229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.045	0.59159	D	0.004	0.12183	B	0.011	0.15521	B	0.142602	0.18238	N	0.593310	1	0.08975	N	0.895	0.22405	L	-1.05	0.76690	T	-1.79	0.44094	N	0.217	0.28849	-0.8819	0.49609	T	0.193	0.54667	T	10	0.079235494	0.12724	T	0.043453	0.60992	D	0.149	0.39377	0.35	0.34760	0.754946080411	0.75272	0.5170559907952202	0.51628	0.127171833989	0.14329	0.302459657192	0.10768	T	0.107318	0.41941	T	-0.0878466	0.38431	T	-0.363962	0.37592	T	0.0998861246287021	0.12344	T	0.668933	0.28201	T	0.19490167	0.41257	0.11864194	0.28638	0.19490167	0.41257	0.11864194	0.28637	-5.85	0.45008	T	0.17385951493280122	0.22048	0.170	0.52744	B	.;.	.;.	1.579597	0.20215	14.64	0.99025358921189988	0.50677	0.30821	0.24181	N	AEFBI	0.151994	0.27658	N	-0.867230118361258	0.11628	0.5622107	-0.812721066826479	0.14187	0.7400236	0.999400669108237	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.45	0.458	0.15882	0.612000	0.23979	1.883000	0.29465	0.691000	0.84096	0.000000	0.06391	0.758000	0.26602	0.995000	0.73285	0.6012:0.0:0.3988:0.0	8.265	0.30968	649	0.63102	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	587.98	34	chr15	90763025	.	A	C	587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.790e-01;DP=762;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.875;SOR=0.818	GT:AD:DP:GQ:PL	0/1:43,30:73:99:602,0,1028	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:43,45,0,2:90:99:1736,0,1761,1842,1827,3624,1713,1663,3441,3389	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:43,45,0,2:90:99:1736,0,1761,1842,1827,3624,1713,1663,3441,3389	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:43,45,0,2:90:99:1736,0,1761,1842,1827,3624,1713,1663,3441,3389	8	2	8	0
chr15	100456011	100456011	T	C	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon11:c.A881G:p.H294R	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	439	1045	36	2	0	40	0.0187793	.	.	1168314	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.33	T	0.004	B	0.003	B	0.049	N	1.000	N	-0.695	N	-1.87	D	-1.006	T	0.045	T	0.2	0.547	6.959	5.66	2.157	1.967	12.284	0.237	.	0.0024	0.0185703	0.0103	0.0053	0.0556	0.0111	0	0.0012	0.0044	0.0221	0.0103362	1598	154602	rs114065539	0.0045	0.0045	0.0042	0.0048	0.0610	0.0044	0.0044	0.0591	0.0583	0.0038	0.0610	0.0020	0.0104	0	0.0096	0.0008	0.0071	0.0226	0.0082	0.0082	0.0073	0.0091	0.0491	0.0078	0.0076	0.0462	0.0450	0.0049	0	0.0491	0.0017	0.0118	0	0.0034	0.0012	0.0137	0.0236	0.322	0.13479	T	0.304	0.20100	T	0.004	0.12183	B	0.003	0.08700	B	0.049068	0.23194	N	0.463226	1	0.08975	N	-0.205	0.04094	N	-1.87	0.84415	D	-1.04	0.27259	N	0.13	0.12484	-1.0063	0.28065	T	0.045	0.19518	T	10	0.004370272	0.00089	T	.	.	.	0.237	0.54074	.	.	.	.	0.24044158694867285	0.23958	0.155856096555	0.17590	0.428422182798	0.28993	T	0.178777	0.52954	T	-0.444213	0.01222	T	-0.362179	0.37800	T	0.014153291741859	0.00277	T	0.158484	0.01410	T	0.10032456	0.23688	0.09860937	0.23514	0.10527182	0.24889	0.09860937	0.23514	-2.74	0.07645	T	0.10677460984451233	0.08618	0.076	0.05756	B	.;.;.	.;.;.	2.400406	0.30838	18.56	0.87877597731952883	0.17549	0.31874	0.24446	N	AEFGBI	0.077620	0.15643	N	-0.56008305979443	0.20168	1.061251	-0.36937976478449	0.25915	1.428153	0.0952573484991105	0.16223	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	2.151000	0.41888	6.209000	0.54989	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.694000	0.33958	0.0:0.0:0.0:1.0	12.284	0.54102	970	0.06235	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 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	0.1429	5162.03	108	chr15	100456011	.	T	C	5162.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.319e+00;DP=1107;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.236;SOR=0.699	GT:AD:DP:GQ:PL	0/1:30,44:74:99:981,0,685	15	0	6	0
chr15	101646763	101646763	G	A	exonic	TM2D3	.	nonsynonymous SNV	TM2D3:NM_001307960:exon3:c.C386T:p.P129L	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.880	N	1.000	N	0.55	N	.	.	-1.017	T	0.038	T	0.371	1.506	10.99	-4.12	-0.608	0.207	0.734	0.031	0.00113016116297	0.0004	.	0.0002	0	0.0006	0	0	0.0003	0	0	0.0002135	33	154602	rs139709573	0.0003	0.0003	0.0003	0.0003	0.0083	0.0003	0.0003	0.0064	0.0058	0.0004	0.0006	0.0007	0	1.872e-05	0.0083	0.0003	0.0005	4.637e-05	0.0001	0.0002	0.0002	0.0001	0.0002	9.735e-05	8.251e-05	0.0001	0.0001	2.405e-05	0	6.539e-05	0.0009	0	9.416e-05	0	0.0002	0.0005	0	0.31	0.14017	T	0.724	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.879818	0.08763	N	0.948764	1	0.08975	N	-0.895	0.01383	N	.	.	.	0.05	0.12847	N	0.137	0.13626	-1.0169	0.24722	T	0.038	0.16505	T	9	0.015630573	0.00328	T	0.00113	0.01385	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.5659019188917468	0.56518	0.0687993092162	0.07705	0.293644815683	0.09457	T	0.002657	0.03927	T	-0.400861	0.02286	T	-0.438941	0.28927	T	0.00718670353984541	0.00082	T	0.585041	0.42019	T	0.02861067	0.02224	0.02065355	0.00148	0.02861067	0.02224	0.02065355	0.00148	-1.79	0.02479	T	.	.	0.056	0.00593	B	.;.;.;.;.	.;.;.;.;.	0.206554	0.05907	2.346	0.85423225641149814	0.15884	0.09262	0.15053	N	AEFDBI	0.086801	0.17599	N	-1.21108429680945	0.04837	0.2191915	-1.20929502900052	0.05759	0.2753436	0.99999990741263	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-4.12	0.03650	0.229000	0.17614	-2.482000	0.03700	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.3766:0.2599:0.1584:0.2051	0.734	0.00900	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2809.98	33	chr15	101646763	.	G	A	2809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=919;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.540e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:119,110:229:99:2824,0,2915	20	0	1	0
chr16	284531	284531	C	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon2:c.C344T:p.T115M,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.847	P	0.75	P	0.632	N	1.000	N	1.065	L	3.92	T	-0.964	T	0.016	T	0.371	1.376	10.53	1.96	0.710	0.219	2.943	0.004	.	0.0030	0.00139776	0.0047	0.0006	0.0007	0.0001	0.0222	0.0059	0.0014	0.0019	0.0038292	592	154602	rs182349041	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0046	0.0046	0.0003	0.0007	0.0041	0.0002	0.0174	0.0023	0.0048	0.0043	0.0021	0.0043	0.0043	0.0040	0.0045	0.0058	0.0040	0.0039	0.0053	0.0051	0.0006	0	0.0013	0.0040	0.0004	0.0174	0	0.0058	0.0019	0.0017	0.006	0.61437	D	0.022	0.57587	D	0.847	0.46818	P	0.75	0.56031	P	0.631836	0.10680	N	0.816579	1	0.08975	N	0.965	0.23975	L	3.92	0.03462	T	-0.83	0.23590	N	0.48	0.51494	-0.9638	0.38448	T	0.016	0.06616	T	10	0.012411565	0.00267	T	.	.	.	0.086	0.25016	.	.	0.587058026133	0.58379	0.5243186002635831	0.52355	.	.	0.4394723773	0.30505	T	0.010785	0.09704	T	-0.522425	0.00426	T	-0.515242	0.20779	T	0.0429149134614305	0.04221	T	0.956904	0.83579	D	0.102028966	0.24104	0.119134404	0.28756	0.102028966	0.24104	0.119134404	0.28756	-8.824	0.66557	D	.	.	0.081	0.16054	B	.;.	.;.	1.979234	0.25141	16.66	0.99613626223670504	0.74992	0.11231	0.16496	N	AEFDBI	0.245371	0.36632	N	-0.346092156969214	0.27417	1.504001	-0.515101256597283	0.21743	1.177671	0.0583153876349015	0.15123	0.700653	0.57754	0	0.550933	0.16991	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.14	1.96	0.25203	0.354000	0.19885	1.643000	0.27803	0.517000	0.23534	0.000000	0.06391	0.911000	0.28135	0.034000	0.13613	0.1799:0.5367:0.176:0.1073	2.943	0.05479	753	0.51500	Thioredoxin domain|Thioredoxin 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	0.02381	1470.98	34	chr16	284531	.	C	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=843;ExcessHet=0.0000;FS=3.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-2.400e-02;SOR=0.469	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1485,0,2022	20	0	1	0
chr16	1209290	1209290	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon17:c.G3622A:p.A1208T	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	465827	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV|Epilepsy,_childhood_absence,_susceptibility_to,_6	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.011	B	0.009	B	0.018	N	1.000	N	0.41	N	-3.94	D	-0.037	T	0.514	D	0.037	-0.886	0.469	-8.39	-3.285	-2.316	9.146	0.220	.	0.0014	0.000798722	0.0016	0.0167	0.0012	0.0007	0	0.0012	0.0036	0	0.0004269	66	154602	rs58394372	0.0005	0.0005	0.0005	0.0005	0.0057	0.0005	0.0005	0.0051	0.0048	0.0057	0.0003	0	5.273e-05	5.182e-05	0	0.0004	0.0005	4.806e-05	0.0018	0.0018	0.0018	0.0017	0.0056	0.0016	0.0015	0.0050	0.0048	0.0056	0	0.0007	0	0.0002	0	0	0.0003	0.0009	0.0004	0.696	0.04251	T	0.389	0.16522	T	0.002	0.15914	B	0.001	0.14300	B	0.018438	0.01488	N	2.889280	1	0.08975	N	-0.465	0.02725	N	-3.99	0.96308	D	-1.0	0.26422	N	0.047	0.03283	-0.0373	0.81476	T	0.514	0.81777	D	10	0.006581396	0.00149	T	.	.	.	0.220	0.51569	.	.	0.483769296659	0.48008	0.365540941519567	0.36468	.	.	0.546550691128	0.45371	T	0.133317	0.46392	T	-0.461542	0.00962	T	-0.433554	0.29534	T	0.00315558114138277	0.00033	T	0.452755	0.12846	T	0.029495975	0.02453	0.039177645	0.03952	0.024772417	0.01343	0.039296158	0.03991	-4.649	0.33125	T	0.16034769823244002	0.19557	0.073	0.04477	B	.;.;.;.	.;.;.;.	-1.072843	0.00674	0.019	0.79706682422762676	0.12863	0.04149	0.09636	N	AEFBCI	0.078005	0.15727	N	-2.46438630787584	0.00019	0.0008337586	-2.54208967048494	0.00018	0.0008132571	0.225147536607599	0.18401	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.19	-8.39	0.00847	-3.418000	0.00531	-2.842000	0.03306	-1.769000	0.00667	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.443:0.0928:0.4642:0.0	9.146	0.36094	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	0.02381	3100.98	34	chr16	1209290	.	G	A	3100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=940;ExcessHet=0.0000;FS=23.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=0.479;SOR=0.459	GT:AD:DP:GQ:PL	0/1:83,121:204:99:3115,0,1884	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,58,0:58:99:.:.:2265,192,0,2265,192,2265	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,58,0:58:99:2265,192,0,2265,192,2265	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,58,0:58:99:2265,192,0,2265,192,2265	8	6	2	4
chr16	2821102	2821102	C	A	exonic	PRSS21	.	stopgain	PRSS21:NM_001270452:exon5:c.C666A:p.C222X,	.	.	415	1067	38	2	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.762	P	.	.	1.000	N	3.38	M	-1.71	D	0.526	D	0.641	D	0.489	2.825	15.41	4.35	2.262	4.870	14.485	0.591	.	0.0018	0.00838658	0.0068	0.0004	0.0010	0	0.0234	0.0045	0.0055	0.0206	0.0058731	908	154602	rs139303479	0.0036	0.0037	0.0031	0.0042	0.0211	0.0036	0.0035	0.0203	0.0200	0.0002	0.0011	0.0007	2.519e-05	0.0209	0.0109	0.0018	0.0037	0.0211	0.0041	0.0041	0.0025	0.0057	0.0222	0.0038	0.0037	0.0188	0.0175	0.0003	0	0.0021	0.0009	0	0.0306	0.0068	0.0020	0.0033	0.0222	0.008	0.58626	D	0.006	0.70582	D	0.979	0.59044	D	0.762	0.56524	P	.	.	.	.	1	0.81001	D	3.345	0.91022	M	-1.71	0.83157	D	-3.12	0.63782	D	0.319	0.35938	0.526	0.90905	D	0.641	0.87438	D	9	0.023073196	0.00593	T	.	.	.	0.591	0.83691	.	.	0.905404214419	0.90446	0.6373043469950349	0.63664	0.105408080071	0.11918	0.337047219276	0.15996	T	0.721797	0.92143	D	-0.224013	0.17449	T	-0.0789608	0.64981	T	0.04023178286282	0.03733	T	.	.	.	0.5699691	0.71059	0.61235946	0.77445	0.5699691	0.71060	0.61235946	0.77446	-15.375	0.96670	D	.	.	0.962	0.88285	P	.	.	3.859172	0.55956	23.7	0.98635057207627197	0.43974	0.94296	0.60715	D	AEFDGBHCI	0.869293	0.78976	D	0.474615841107823	0.65613	4.844492	0.322565907156833	0.56869	3.850931	0.999999983955616	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	4.884000	0.62827	3.581000	0.39157	0.587000	0.30956	0.997000	0.40164	0.498000	0.25189	0.021000	0.11733	0.0:1.0:0.0:0.0	14.485	0.67191	518	0.74548	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs139303479	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	0.07143	5302.66	33	chr16	2821102	.	C	A	5302.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.160e-01;DP=1046;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.39;ReadPosRankSum=-6.420e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1761,0,1973	19	1	1	0
chr16	3244068	3244068	C	T	splicing	MEFV	NM_001198536:exon8:c.1127-1G>A	.	.	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.0095	0.04	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.688	11.60	4.72	2.567	0.550	13.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs538863514	2.501e-05	2.394e-05	2.68e-05	2.317e-05	3.15e-05	1.816e-05	1.607e-05	2.267e-05	2e-05	0	0	0	0	0	0	3.15e-05	1.722e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.441439	0.01268	T	-0.766588	0.02882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.034697	0.14151	10.72	0.95259526037828035	0.26526	0.21232	0.21328	N	AEFDBHCI	.	.	.	-0.216980954190139	0.32437	1.829299	-0.297752256477207	0.28173	1.568679	0.999999600041775	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.060301	0.00762	0	0.058706	0.01089	0	0.954737	0.63183	4.72	4.72	0.59248	0.357000	0.19935	.	.	0.599000	0.40250	0.002000	0.15269	0.003000	0.18671	0.018000	0.11154	0.0:1.0:0.0:0.0	13.91	0.63364	784	0.47045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	39	chr16	3244068	.	C	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=1406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.196;SOR=0.637	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1297,0,1559	20	0	1	0
chr16	8774969	8774969	G	A	exonic	ABAT	.	nonsynonymous SNV	ABAT:NM_000663:exon13:c.G1034A:p.G345D	GABA-transaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1338581	Gamma-aminobutyric_acid_transaminase_deficiency|not_specified	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.052	B	0.038	B	0.000	D	1.000	D	1.985	M	-2.53	D	0.027	D	0.645	D	0.948	3.359	17.32	5.79	2.746	9.709	19.029	0.566	0.0800464599702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.16038	T	0.39	0.15506	T	0.052	0.22494	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	-2.53	0.89430	D	0.13	0.05503	N	0.927	0.95256	0.027	0.82790	D	0.645	0.87610	D	10	0.8971139	0.89066	D	0.080046	0.73373	D	0.566	0.82289	0.779	0.90388	0.894028876271	0.89297	0.8730936378288995	0.87275	0.425041072685	0.42916	0.823260962963	0.85528	D	0.259111	0.63035	T	0.405232	0.90214	D	0.344311	0.90092	D	0.760258316993713	0.43866	D	0.950605	0.81197	D	0.33136523	0.55582	0.43088055	0.66724	0.33136523	0.55582	0.43088055	0.66724	-5.477	0.41653	T	0.16957505096887696	0.21270	0.121	0.33527	B	.;.;.;.;.	.;.;.;.;.	3.510922	0.49169	22.7	0.9948235823514574	0.66959	0.98880	0.88090	D	AEFDBI	0.964759	0.98695	D	0.301087765739924	0.56203	3.784844	0.474621702577392	0.66313	4.935867	0.999999999983677	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	9.964000	0.99056	7.296000	0.58072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.029	0.92925	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1230.98	34	chr16	8774969	.	G	A	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.245e+00;DP=831;ExcessHet=0.0000;FS=9.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-1.720e-01;SOR=1.397	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1245,0,1208	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,15,0,0:26:99:578,611,1044,0,433,388,611,1044,433,1044,611,1044,433,1044,1044	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,15,0,0:26:99:578,611,1044,0,433,388,611,1044,433,1044,611,1044,433,1044,1044	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,15,0,0:26:99:578,611,1044,0,433,388,611,1044,433,1044,611,1044,433,1044,1044	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,224,0:224:99:.:.:6891,670,0,6891,670,6891	2	11	4	0
chr16	11927711	11927711	G	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C334G:p.L112V,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.32	T	-0.931	T	0.130	T	0.04	-1.864	0.008	.	-1.943	-1.899	.	0.106	0.0138127863163	.	.	1.036e-05	0	0	0	0	0	0.0013	0	3.84e-05	1	26028	rs201932636	0.0002	0.0017	0.0002	0.0002	0.0027	0.0001	0.0001	0.0022	0.0021	0	0.0004	0	0.0027	0.0027	0.0002	5.4e-06	5.009e-05	6.99e-05	0.0009	0.0033	0.0007	0.0013	0.0073	0.0008	0.0008	0.0053	0.0047	4.82e-05	0	0.0026	0	0.0073	0.0056	0	5.891e-05	0.0010	0.0015	0.014	0.53172	D	0.04	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.58468	T	-1.69	0.43334	N	0.127	0.12055	-0.9315	0.43918	T	0.130	0.43927	T	3	0.09202841	0.16170	T	0.013813	0.33491	T	0.106	0.30130	.	.	0.202086224978	0.19791	0.012331672170168784	0.01192	0.344934144322	0.36413	.	.	.	.	.	.	-0.2954	0.09100	T	-0.662098	0.08125	T	0.0531992511397608	0.06054	T	0.557644	0.19406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31733	B	.;.	.;.	-0.559667	0.01685	0.121	0.32661906320266598	0.01904	0.00039	0.00329	N	AEFI	0.028185	0.02438	N	-1.36778895289409	0.02945	0.130806	-1.62019480396572	0.01537	0.06963554	1.56236997389424E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.887000	0.01709	-3.218000	0.02961	-1.946000	0.00487	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.98	41	chr16	11927711	.	G	C	50.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.517e+00;DP=1435;ExcessHet=0.0000;FS=4.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.82;MQRankSum=-7.708e+00;QD=0.21;ReadPosRankSum=4.57;SOR=0.377	GT:AD:DP:GQ:PL	0/1:211,32:243:65:65,0,6161	20	0	1	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18:113:99:0|1:14667707_GCCCC_G:184,0,3631:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18,0,0:113:99:0|1:14667707_GCCCC_G:184,0,3631,468,3684,4152,468,3684,4152,4152:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18,0,0:113:99:0|1:14667707_GCCCC_G:184,0,3631,468,3684,4152,468,3684,4152,4152:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18,0,0:113:99:0|1:14667707_GCCCC_G:184,0,3631,468,3684,4152,468,3684,4152,4152:14667707	12	0	6	1
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,4,0:7:58:.:.:88,0,58,97,70,167	8	2	7	3
chr16	23393263	23393263	C	T	exonic	COG7	.	nonsynonymous SNV	COG7:NM_153603:exon15:c.G1972A:p.A658T,	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	703566	COG7_congenital_disorder_of_glycosylation|COG7-related_disorder	MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.279	B	0.066	B	0.000	D	1.000	D	0.975	L	0.94	T	-1.104	T	0.051	T	0.229	1.061	9.333	4.03	1.094	4.720	12.375	0.073	0.0166757735238	7.7e-05	0.000998403	0.0004	0.0002	0.0011	0.0034	0	1.511e-05	0.0023	6.231e-05	0.0003363	52	154602	rs115073082	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0075	0.0072	2.987e-05	0.0010	0	0.0082	1.872e-05	0	2.698e-05	0.0001	2.32e-05	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	4.812e-05	0	0.0003	0	0.0037	0	0	5.881e-05	0	0	0.295	0.14743	T	0.342	0.17910	T	0.279	0.32056	B	0.066	0.27432	B	0.000000	0.84330	D	0.049599	0.999848	0.49770	D	1.9	0.50570	L	0.94	0.43672	T	-1.17	0.29933	N	0.443	0.48134	-1.1042	0.03620	T	0.051	0.21844	T	10	0.011495858	0.00251	T	0.016676	0.38050	T	0.073	0.21317	.	.	0.284539287134	0.28064	0.4792434155106962	0.47844	0.28602195282	0.31010	0.864694714546	0.91801	D	0.041579	0.25903	T	-0.489876	0.00651	T	-0.476457	0.24824	T	0.0135091314516237	0.00248	T	0.913409	0.69158	D	0.10181508	0.24053	0.09264649	0.21845	0.10181508	0.24053	0.09264649	0.21844	-3.74	0.19910	T	0.18223007271542266	0.23536	0.086	0.10691	B	.	.	2.842233	0.37502	20.5	0.87022526823624036	0.16934	0.84683	0.43769	D	ALL	0.321683	0.42441	N	-0.602202662218605	0.18877	0.9836445	-0.548693040299673	0.20841	1.124697	0.999999999960819	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.548927	0.17530	0	.	.	4.98	4.03	0.46115	4.812000	0.62303	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	0.0:0.9182:0.0:0.0818	12.375	0.54602	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3718.98	37	chr16	23393263	.	C	T	3718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1109;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.870e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:156,147:303:99:3733,0,3766	20	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T,	.	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.153	B	0.046	B	0.000	D	1.000	D	1.79	L	1.98	T	-1.094	T	0.031	T	0.125	2.253	13.49	3.05	0.697	2.859	6.989	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2585.11	33	chr16	24939524	.	C	T	2585.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.55;DP=915;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.058;SOR=0.715	GT:AD:DP:GQ:PL	0/1:92,57:149:99:1396,0,2394	19	0	2	0
chr16	28914449	28914451	GTT	-	exonic	RABEP2	.	nonframeshift deletion	RABEP2:NM_024816:exon5:c.679_681del:p.N227del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445216229	6.159e-06	6.156e-06	5.447e-06	6.879e-06	0.0003	2.9e-06	2.1e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.94	34	chr16	28914448	.	AGTT	A	910.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.59;ReadPosRankSum=-5.300e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,24:49:99:925,0,970	20	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,0,10:72:92:.:.:92,277,2064,0,1787,1757	7	0	12	0
chr16	29807346	29807346	G	C	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon2:c.G561C:p.K187N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.867	P	0.352	B	0.436	N	1.000	D	0	N	4.68	T	-0.469	T	0.005	T	0.068	2.120	13.05	3.15	1.513	.	12.173	0.133	0.134999103919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.167	0.39645	T	0.397	0.34783	B	0.093	0.30104	B	0.435629	0.12693	N	0.675160	1	0.81001	D	0	0.06538	N	4.68	0.01715	T	-1.11	0.29114	N	0.507	0.53884	-0.4694	0.69745	T	0.005	0.01578	T	10	0.26120687	0.43577	T	0.134999	0.81745	D	0.133	0.36157	0.448	0.50793	0.554512861526	0.55110	0.16731677425195535	0.16651	1.48687609332	0.86800	0.851965308189	0.89911	D	0.153904	0.49495	T	-0.31049	0.07704	T	-0.683774	0.06755	T	0.290501988492608	0.24610	T	0.735426	0.37153	T	0.16363412	0.36518	0.08177421	0.18610	0.16363412	0.36518	0.08177421	0.18610	-10.515	0.82309	D	.	.	0.974	0.89971	P	.;.;.	.;.;.	3.514540	0.49230	22.7	0.98935372242225628	0.48826	0.19920	0.20846	N	ALL	0.161888	0.28800	N	-0.400134304504689	0.25465	1.382524	-0.376272512799973	0.25705	1.41532	0.999999896863054	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.15	3.15	0.35301	0.621000	0.24112	5.337000	0.48335	-0.326000	0.05813	0.345000	0.25717	1.000000	0.68203	0.837000	0.39485	0.0:0.0:1.0:0.0	12.173	0.53476	278	0.89047	.;.;.	.	.	.	.	.	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	0.02381	720.98	35	chr16	29807346	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.513e+00;DP=893;ExcessHet=0.0000;FS=3.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.11;ReadPosRankSum=1.05;SOR=0.520	GT:AD:DP:GQ:PL	0/1:79,39:118:99:735,0,2031	20	0	1	0
chr16	29810161	29810161	C	A	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001276276:exon3:c.C449A:p.A150D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.763	P	.	.	1.000	D	0.345	N	3.03	T	-1.062	T	0.028	T	0.637	2.624	14.73	2.95	1.221	1.678	9.628	0.141	0.0316593166221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.27	0.70582	T	0.995	0.67487	D	0.763	0.56556	P	.	.	.	.	1	0.81001	D	1.63	0.41750	L	3.03	0.09542	T	-1.56	0.43717	N	0.662	0.73465	-1.0616	0.11361	T	0.028	0.12014	T	9	0.19529599	0.35375	T	0.031659	0.53686	D	0.141	0.37795	0.291	0.25241	0.341405816201	0.33746	.	.	.	.	.	.	.	0.274299	0.64679	T	-0.040413	0.45886	T	-0.295827	0.45164	T	0.330549358541598	0.26247	T	0.754025	0.37642	T	0.49073717	0.66547	0.4755514	0.69609	0.49073717	0.66548	0.4755514	0.69610	-6.043	0.47639	T	.	.	0.422	0.60783	A	.;.;.;.;.;.	.;.;.;.;.;.	4.127541	0.61742	24.4	0.98219616797534626	0.39290	0.73557	0.35980	D	AEFDGBHCI	0.329804	0.43004	N	0.0984329241551781	0.46389	2.880043	0.0779884351701568	0.43443	2.645988	0.999999935719488	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.91	2.95	0.33285	1.364000	0.33775	3.976000	0.40865	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.787:0.213:0.0	9.628	0.38925	261	0.89765	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1051.98	35	chr16	29810161	.	C	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=812;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.05;SOR=0.666	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1066,0,937	20	0	1	0
chr16	30555969	30555969	A	C	exonic	ZNF764	.	nonsynonymous SNV	ZNF764:NM_001172679:exon3:c.T449G:p.L150R	.	.	425	1063	32	2	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.252	N	1.000	N	0.345	N	3.28	T	-0.980	T	0.008	T	0.19	-0.901	0.437	-0.749	-0.003	-0.260	4.815	0.022	.	0.0043	0.00499201	0.0039	0.0092	0.0007	0.0001	0.0009	0.0028	0.0081	0.0099	0.0034993	541	154602	rs145819551	0.0022	0.0022	0.0019	0.0025	0.0107	0.0022	0.0021	0.0101	0.0099	0.0094	0.0012	0.0065	0.0002	0.0008	0.0100	0.0013	0.0034	0.0107	0.0041	0.0041	0.0042	0.0040	0.0098	0.0039	0.0038	0.0086	0.0083	0.0094	0	0.0022	0.0069	0	0.0008	0.0205	0.0017	0.0038	0.0098	0.344	0.12552	T	0.38	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.252272	0.15484	N	0.480260	1	0.08975	N	0.69	0.16971	N	3.28	0.06681	T	-0.87	0.23590	N	0.165	0.20528	-0.9800	0.35002	T	0.008	0.02926	T	10	0.0039159954	0.00075	T	.	.	.	0.022	0.04323	.	.	0.149567049428	0.14543	0.2104401489772542	0.20960	0.290997932504	0.31501	0.416627287865	0.27373	T	0.006149	0.05589	T	-0.663892	0.00060	T	-0.71845	0.04871	T	6.68280772515573e-05	0.00001	T	0.112089	0.00848	T	0.0801973	0.18363	0.07744414	0.17252	0.0801973	0.18363	0.07744414	0.17251	-1.919	0.02889	T	.	.	0.064	0.01668	B	.;.	.;.	-0.358155	0.02373	0.261	0.37152096643439436	0.02431	0.02813	0.07543	N	AEFDBI	0.042603	0.06630	N	-1.41135848690446	0.02538	0.112211	-1.41896193510169	0.03063	0.1421382	0.94258433574434	0.27528	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.94	-0.749	0.10525	-0.473000	0.06694	-0.370000	0.09613	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2684:0.2909:0.4407:0.0	4.815	0.12728	213	0.91726	.;.	.	.	.	.	.	Likely benign	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	0.02381	449.98	33	chr16	30555969	.	A	C	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=829;ExcessHet=0.0000;FS=5.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.26;ReadPosRankSum=0.052;SOR=0.792	GT:AD:DP:GQ:PL	0/1:41,21:62:99:464,0,1194	20	0	1	0
chr16	31357322	31357322	G	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon5:c.G388C:p.G130R	.	.	340	1181	1	0	0	1	0.000423191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.908	P	0.706	P	.	.	1.000	N	1.985	M	-1.17	T	-0.477	T	0.401	T	0.161	3.459	17.72	-6.87	-1.254	-0.526	8.393	0.322	0.00455921779435	7.7e-05	.	8.674e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs201621258	5.564e-05	5.678e-05	3.825e-05	7.324e-05	2.343e-05	4.562e-05	4.173e-05	1.63e-05	1.385e-05	0	2.261e-05	0.0016	0	0	0	2.343e-05	0.0002	0	3.943e-05	3.94e-05	1.285e-05	6.725e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.94e-05	0	0	0.053	0.39334	T	0.013	0.63918	D	0.908	0.50127	P	0.706	0.54345	P	.	.	.	.	1	0.08975	N	1.645	0.42016	L	-1.17	0.78199	T	-3.42	0.67241	D	0.237	0.26717	-0.4768	0.69483	T	0.401	0.75259	T	9	0.09536967	0.17027	T	0.004559	0.11252	T	0.322	0.64420	.	.	0.615520507219	0.61241	0.4617526456154004	0.46093	0.266147058046	0.29158	0.263174086809	0.05274	T	0.496731	0.81890	T	-0.173017	0.24780	T	-0.373812	0.36443	T	0.249389544123547	0.22845	T	0.312169	0.06100	T	0.28977	0.51971	0.27188244	0.53093	0.28977	0.51971	0.27188244	0.53092	-6.319	0.48872	T	.	.	0.119	0.36673	B	.;.	.;.	1.917230	0.24347	16.36	0.98285180712437681	0.39898	0.04386	0.09966	N	AEFDB	0.143533	0.26626	N	-0.669252387401244	0.16901	0.8651943	-0.971974518180988	0.10418	0.5245598	0.999999914208048	0.74766	0.661447	0.50134	0	0.644132	0.57912	0	0.659618	0.59808	1	0.604944	0.38103	0	.	.	4.69	-6.87	0.01511	-0.067000	0.11538	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.587:0.0:0.3076:0.1055	8.393	0.31698	287	0.88635	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	991.98	34	chr16	31357322	.	G	C	991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=843;ExcessHet=0.0000;FS=4.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.762e+00;SOR=1.325	GT:AD:DP:GQ:PL	0/1:49,36:85:99:1006,0,1357	20	0	1	0
chr16	48187226	48187226	T	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon20:c.A2908G:p.M970V	.	.	1	1448	68	5	0	78	0.0262273	.	.	714930	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.004	B	0.347	N	1.000	N	-0.435	N	-2.42	D	-0.722	T	0.202	T	0.085	-1.625	0.013	-9.56	-2.438	-2.067	0.739	0.190	.	0.0059	0.00359425	0.0074	0.0011	0.0036	0	0.0103	0.0083	0.0077	0.0132	0.0072379	1119	154602	rs41280943	0.0079	0.0079	0.0076	0.0082	0.0154	0.0078	0.0078	0.0137	0.0134	0.0017	0.0041	0.0114	7.557e-05	0.0102	0.0154	0.0078	0.0085	0.0143	0.0062	0.0062	0.0060	0.0064	0.0131	0.0059	0.0057	0.0105	0.0096	0.0013	0.0099	0.0041	0.0115	0	0.0106	0.0068	0.0085	0.0090	0.0131	0.647	0.04897	T	0.592	0.08161	T	0.001	0.07471	B	0.001	0.10090	B	0.346545	0.04219	N	1.481950	1	0.08975	N	0	0.06538	N	-2.42	0.88611	D	0.3	0.04091	N	0.049	0.02366	-0.7224	0.59344	T	0.202	0.55877	T	10	0.004173249	0.00083	T	.	.	.	0.190	0.46781	.	.	0.303453137403	0.29957	0.2925052274158271	0.29163	0.091301167316	0.10314	0.224543467164	0.01588	T	0.111656	0.42731	T	-0.527803	0.00396	T	-0.519253	0.20370	T	0.00280513066348541	0.00029	T	0.331767	0.06954	T	0.031401824	0.02972	0.03592514	0.02939	0.031401824	0.02972	0.03592514	0.02939	-1.788	0.02634	T	.	.	0.055	0.01348	B	.;.;.;.	.;.;.;.	-1.945516	0.00114	0.002	0.23319595417187619	0.00980	0.00326	0.01707	N	AEFBI	0.031554	0.03400	N	-1.86810917791206	0.00399	0.01715328	-1.94889643834209	0.00391	0.01726979	0.999999999253371	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.78	-9.56	0.00476	-2.171000	0.01353	-5.456000	0.01711	-0.139000	0.12461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1854:0.2407:0.2009:0.373	0.739	0.00908	528	0.73785	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1585.98	34	chr16	48187226	.	T	C	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=865;ExcessHet=0.0000;FS=1.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-1.288e+00;SOR=0.867	GT:AD:DP:GQ:PL	0/1:94,69:163:99:1600,0,2422	20	0	1	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E	.	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.856	P	0.492	P	0.085	N	1.000	N	1.37	L	-0.21	T	-0.921	T	0.198	T	0.287	1.791	11.95	3.18	1.550	0.297	4.286	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1554.98	48	chr16	55849715	.	G	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=932;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=2.00;SOR=0.542	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1569,0,1319	20	0	1	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P	.	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.896	P	0.631	P	0.978	N	1.000	N	3.4	M	3.06	T	-0.938	T	0.064	T	0.67	1.882	12.25	-6.11	-1.205	-0.420	15.763	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2357.11	40	chr16	55852892	.	C	G	2357.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-3.370e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1246,0,971	19	0	2	0
chr16	67665166	67665166	T	C	exonic	ENKD1	.	nonsynonymous SNV	ENKD1:NM_032140:exon3:c.A283G:p.K95E,	.	.	410	1111	1	0	0	1	0.000449843	.	.	2354253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.325	B	0.025	B	0.000	D	0.997	D	2.045	M	.	.	-0.711	T	0.216	T	0.433	2.728	15.08	5.38	2.051	1.612	15.052	0.092	0.010586394764	.	0.000399361	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs543005933	7.274e-05	7.251e-05	6.553e-05	8.001e-05	0.0019	6.133e-05	5.717e-05	0.0011	0.0008	0.0001	0.0002	0	0	0	0.0019	6.216e-05	0.0002	4.661e-05	0.0001	0.0001	0.0001	9.404e-05	0.0003	7.09e-05	5.746e-05	8.877e-05	5.386e-05	2.408e-05	0	0.0003	0	0	0	0.0102	0.0001	0.0005	0	0.032	0.44694	D	0.091	0.59159	T	0.325	0.33132	B	0.025	0.20508	B	0.000026	0.55875	D	0.122605	0.996669	0.43340	D	2.42	0.70002	M	.	.	.	-1.7	0.40468	N	0.41	0.53269	-0.7107	0.59918	T	0.216	0.57771	T	9	0.083515316	0.13901	T	0.010586	0.27302	T	0.092	0.26621	.	.	0.527660502957	0.52413	0.3085008072442692	0.30763	0.819490523936	0.67094	0.471978664398	0.34952	T	0.055332	0.29977	T	-0.210888	0.19253	T	-0.266403	0.48183	T	0.120495304126284	0.14478	T	0.752925	0.37500	T	0.29643542	0.52583	0.25471792	0.51142	0.29643542	0.52583	0.25471792	0.51141	-3.569	0.17410	T	.	.	0.163	0.49324	B	.;.	.;.	3.587857	0.50608	23.0	0.99662666495041397	0.78074	0.89991	0.50828	D	AEFBI	0.428837	0.49220	N	0.0379725828589267	0.43589	2.648956	0.145358946954977	0.46898	2.928289	0.999999113996977	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	0.872000	0.27688	7.871000	0.71963	0.661000	0.55757	0.761000	0.29254	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	15.052	0.71542	41	0.97903	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1261.98	36	chr16	67665166	.	T	C	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e+00;DP=784;ExcessHet=0.0000;FS=3.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.18;ReadPosRankSum=1.09;SOR=0.418	GT:AD:DP:GQ:PL	0/1:28,50:78:99:1276,0,702	20	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:32,28,0:60:99:1062,0,1217,1158,1302,2460	13	1	6	0
chr16	68372045	68372045	C	T	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon3:c.G137A:p.R46H,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.658	P	0.093	B	0.000	D	0.998	D	0.805	L	0.65	T	-1.080	T	0.071	T	0.229	1.681	11.58	4.28	1.232	2.925	10.931	0.068	0.0181738825233	.	.	1.063e-05	0	0	0	0	0	0	7.35e-05	6.5e-06	1	154602	rs778688383	1.854e-05	1.915e-05	1.639e-05	2.071e-05	0.0003	1.269e-05	1.088e-05	6.548e-05	4.473e-05	0	0	0	0.0002	0	0.0003	9.907e-06	9.971e-05	2.344e-05	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.117	0.28271	T	0.267	0.22561	T	0.658	0.40863	P	0.093	0.30104	B	0.000146	0.49130	D	0.244698	0.99815	0.44569	D	1.495	0.37439	L	0.65	0.52642	T	-1.58	0.47175	N	0.148	0.29429	-1.0802	0.07310	T	0.071	0.28969	T	10	0.12764648	0.24275	T	0.018174	0.40143	T	0.068	0.19811	0.18	0.08751	0.362142726121	0.35819	0.5966798779544825	0.59597	0.255454782389	0.28134	0.268745243549	0.05978	T	0.174236	0.52339	T	-0.230089	0.16636	T	-0.384892	0.35148	T	0.309617966413498	0.25399	T	0.90371	0.66210	D	0.16862373	0.37330	0.15868226	0.37045	0.16862373	0.37330	0.15868226	0.37044	-5.263	0.39705	T	.	.	0.084	0.14933	B	.;.;.;.	.;.;.;.	3.128572	0.42264	21.5	0.95961066155168973	0.28300	0.89292	0.49669	D	AEFBI	0.596368	0.59057	D	0.0106147273728416	0.42338	2.549022	0.127540327877499	0.45963	2.850295	0.999999726362354	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.3	4.28	0.50183	2.968000	0.48916	4.935000	0.46163	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.8982:0.0:0.1018	10.931	0.46429	42	0.97857	.;.;.;.	.	.	.	.	.	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	0.02381	1543.98	35	chr16	68372045	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=829;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-9.070e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1558,0,1278	20	0	1	0
chr16	69693627	69693629	CAG	-	exonic	NFAT5	.	nonframeshift deletion	NFAT5:NM_001367709:exon12:c.3127_3129del:p.Q1059del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0007	0.0020	0.0009	0.0002	0.0009	0.0011	0.0010	0.0007956	123	154602	rs750951612	1.369e-06	0.0003	0	2.752e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.879e-05	0	8.998e-07	0	0	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2032.94	39	chr16	69693626	.	ACAG	A	2032.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=820;ExcessHet=0.0000;FS=2.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.070;SOR=0.991	GT:AD:DP:GQ:PL	0/1:58,53:111:99:2047,0,2249	20	0	1	0
chr16	70943930	70943930	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon42:c.C6551T:p.P2184L,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	0	1496	25	1	0	27	0.00894336	.	.	2817697	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.099	N	1.000	N	1.085	L	5.51	T	-0.928	T	0.003	T	0.045	-0.782	0.726	0.298	-0.374	0.169	12.359	0.048	0.00421247922249	8.2e-05	0.000199681	0.0005	0	0.0007	0	0	0.0002	0.0017	0.0018	0.0002975	46	154602	rs201833742	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0003	0	0	0	0.0047	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0014	7.57e-05	6.276e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0014	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.098996	0.19955	N	0.246545	1	0.08975	N	0.335	0.10427	N	5.51	0.00912	T	-2.48	0.54059	N	0.178	0.19190	-0.9282	0.44400	T	0.003	0.01092	T	10	0.008992434	0.00203	T	0.004212	0.10153	T	0.048	0.13305	.	.	0.0482279557977	0.04254	0.13281182242206993	0.13205	.	.	0.292147189379	0.09236	T	0.288791	0.66158	T	-0.718616	0.00028	T	-0.85057	0.00952	T	0.0098813491200153	0.00131	T	.	.	.	0.0272746	0.01897	0.040950816	0.04543	0.0272746	0.01897	0.040950816	0.04543	-4.602	0.32197	T	.	.	0.068	0.02829	B	.	.	0.275899	0.06533	3.015	0.45450718449104699	0.03568	0.05380	0.11244	N	AEFBI	0.042569	0.06621	N	-1.46768840436088	0.02082	0.09154312	-1.47896888674186	0.02517	0.1159069	0.999599919016024	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.95	0.298	0.15015	0.502000	0.22302	2.248000	0.31665	-0.925000	0.02178	0.002000	0.15269	0.979000	0.30280	0.001000	0.02609	0.2182:0.0:0.7818:0.0	12.359	0.54518	564	0.70960	Hydin adenylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1387.98	54	chr16	70943930	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.491e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.644;SOR=0.683	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1402,0,1127	20	0	1	0
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.750	7.976	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,4:14:49:0|1:72056631_G_C:49,79,394,0,314,303:72056631	2	0	4	14
chr16	72056631	72056631	G	C	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190C:p.G64R	.	.	.	.	.	.	.	.	.	0.9999	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.999	D	.	.	1.000	D	2.5	M	0.81	T	-0.670	T	0.283	T	0.768	0.630	7.385	4.84	2.664	4.773	13.650	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.6627866	0.70252	D	.	.	.	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249074910103	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114535	0.65818	D	-0.0732555	0.65393	T	0.499475828049257	0.32610	T	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.045414	0.59928	24.2	0.75314754377524518	0.11027	0.91508	0.53678	D	AEFBI	0.967500	0.98997	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	260.17	9	chr16	72056631	.	G	A,C	260.17	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-3.190e-01;DP=247;ExcessHet=2.2455;FS=0.000;InbreedingCoeff=-0.2704;MLEAC=8,2;MLEAF=0.571,0.143;MQ=39.10;MQRankSum=0.00;QD=3.61;ReadPosRankSum=1.01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,4:14:49:0|1:72056631_G_C:49,79,394,0,314,303:72056631	2	0	4	14
chr16	72056632	72056632	G	A	splicing	HP	NM_005143:exon3:c.190+1G>A;NM_001318138:exon3:c.190+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.994	9.059	4.84	2.664	3.259	13.650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.035e-06	1.404e-06	2.09e-06	0	3.009e-05	0	0	.	.	0	0	0	3.009e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161395	0.70330	D	-0.00594352	0.69950	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.408646	0.68188	25.2	0.96901902273035678	0.31542	0.84171	0.43254	D	AEFBI	.	.	.	0.879231487400687	0.90706	10.52714	0.664537954584481	0.79698	7.137518	0.999481848907043	0.39952	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.058706	0.01089	0	0.957822	0.64339	4.84	4.84	0.62125	3.378000	0.52164	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	114.53	9	chr16	72056632	.	G	A	114.53	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.880e-01;DP=267;ExcessHet=0.1424;FS=0.000;InbreedingCoeff=-0.0002;MLEAC=3;MLEAF=0.107;MQ=39.02;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.00;SOR=0.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,4:14:49:0|1:72056631_G_C:49,0,303:72056631	12	0	2	7
chr16	72787733	72787733	-	GCCACT	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7800_7801insAGTGGC:p.G2600_G2601insSG	.	.	278	1218	19	3	4	29	0.0101585	.	.	3214869	ZFHX3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0006	0.0001	0.0004	0.0006	0.0072	0.0173	0.0001921	5	26028	rs750444062	0.0009	0.0013	0.0006	0.0012	0.0150	0.0008	0.0008	0.0140	0.0136	0.0002	0.0004	0.0002	0	0.0001	0.0043	0.0003	0.0012	0.0150	0.0009	0.0009	0.0005	0.0012	0.0190	0.0007	0.0007	0.0158	0.0146	7.373e-05	0	0.0003	0.0003	0	0.0001	0	0.0004	0	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3026.94	41	chr16	72787733	.	C	CGCCACT	3026.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=1168;ExcessHet=0.0000;FS=7.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=2.64;SOR=0.784	GT:AD:DP:GQ:PL	0/1:93,60:154:99:3041,0,3647	20	0	1	0
chr16	74391608	74391608	T	C	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon7:c.T860C:p.L287P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.839	P	0.425	B	.	.	1.000	N	1.32	L	0.61	T	-1.045	T	0.104	T	0.382	0.783	8.133	.	.	.	.	0.128	0.00754264918495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.61	0.53516	T	-2.09	0.47683	N	0.145	0.14622	-1.0447	0.15913	T	0.104	0.38218	T	6	0.16688624	0.31152	T	0.007543	0.20006	T	0.128	0.35103	.	.	0.387529464389	0.38369	0.03502445033397926	0.03449	0.301973635816	0.32530	.	.	.	0.014374	0.12250	T	-0.109147	0.34909	T	-0.394559	0.34019	T	0.233433318103362	0.22113	T	0.364564	0.08467	T	0.23030882	0.45784	0.29830965	0.55864	0.23030882	0.45784	0.29830965	0.55863	-5.73	0.43959	T	.	.	0.131	0.28057	B	.	.	1.264659	0.16625	12.66	0.94548373748204717	0.25062	0.00102	0.00658	N	AEFBI	0.067025	0.13154	N	-0.211078100539261	0.32679	1.845564	-0.339748845341845	0.26828	1.484429	3.97398773027671E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	.	.	.	.	.	-1.229000	0.05965	.	.	.	.	0.000000	0.08366	.	.	.	.	.	699	0.57969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1846.02	350	chr16	74391608	.	T	C	1846.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.820e-01;DP=6728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=58.14;MQRankSum=1.62;QD=4.69;ReadPosRankSum=1.32;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,93:394:99:0|1:74391608_T_C:1860,0,9560:74391608	20	0	1	0
chr16	75478836	75478836	C	A	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.G993T:p.Q331H,	Macular corneal dystrophy, Autosomal recessive	.	0	1495	27	0	0	27	0.00894929	.	.	193668	not_specified|Macular_corneal_dystrophy	MedGen:CN169374|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.996	D	0.001	D	1.000	D	2.005	M	-6.62	D	1.090	D	0.984	D	0.436	3.976	20.4	4.9	2.278	4.743	15.563	0.620	.	0.0012	0.00319489	0.0042	0.0003	0.0006	0	0.0002	0.0014	0.0067	0.0239	0.0034993	541	154602	rs140699573	0.0024	0.0024	0.0016	0.0032	0.0261	0.0023	0.0023	0.0252	0.0249	0.0004	0.0006	0.0103	0	7.586e-05	0.0057	0.0007	0.0025	0.0261	0.0016	0.0016	0.0013	0.0020	0.0213	0.0015	0.0014	0.0180	0.0167	0.0002	0	0.0031	0.0078	0.0002	0	0.0034	0.0008	0.0028	0.0213	0.002	0.72154	D	0.087	0.40747	T	1.0	0.90584	D	0.996	0.84481	D	0.000531	0.43581	D	0.203184	0.999671	0.48205	D	2.25	0.63811	M	-6.62	0.99745	D	-3.09	0.63438	D	0.511	0.70527	1.090	0.99251	D	0.984	0.99498	D	10	0.011656791	0.00254	T	.	.	.	0.620	0.85249	0.48	0.55983	0.998818162847	0.99880	0.6734239388447089	0.67280	0.881255799373	0.69779	0.641511797905	0.58779	T	0.76605	0.93701	D	-0.116344	0.33724	T	0.0790272	0.75513	D	0.0266110235997233	0.01490	T	0.960204	0.84976	D	0.6321353	0.74412	0.6138076	0.77525	0.7305861	0.79758	0.631946	0.78527	-8.366	0.63538	D	0.44799476497747936	0.53232	0.444	0.61887	A	.;.;.	.;.;.	3.976525	0.58430	24.0	0.99673370606959577	0.78717	0.97880	0.77824	D	AEFGBI	0.741657	0.68552	D	0.620941588707204	0.74502	6.143385	0.594727862667393	0.74561	6.157997	0.99999996070518	0.74766	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	4.818000	0.62347	1.802000	0.28890	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	15.563	0.76007	657	0.62240	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase 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	0.02381	2506.98	36	chr16	75478836	.	C	A	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.664e+00;DP=915;ExcessHet=0.0000;FS=4.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=-5.440e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:63,96:159:99:2521,0,1550	20	0	1	0
chr16	75694514	75694514	C	A	exonic	DUXB	.	nonsynonymous SNV	DUXB:NM_001351308:exon3:c.G192T:p.Q64H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	-4.49	D	0.616	D	0.884	D	0.231	2.460	14.18	2.6	1.071	0.177	7.055	0.426	.	.	.	0.0001	0	0	0	0	0.0003	0	0.0001	1.29e-05	2	154602	rs769327171	5.811e-05	5.089e-05	4.355e-05	7.044e-05	0.0010	4.203e-05	3.596e-05	0.0003	0.0002	6.327e-05	0	0	0	0	0.0010	6.941e-05	9.797e-05	3.187e-05	3.944e-05	3.941e-05	5.14e-05	2.692e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	0.92111	D	0.884	0.96139	D	6	0.3807806	0.54177	T	.	.	.	.	.	.	.	.	.	0.2155408437452223	0.21470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480052	0.14488	T	.	.	.	.	.	.	.	.	-6.076	0.46911	T	.	.	0.645	0.70702	P	.	.	2.425379	0.31191	18.67	0.99421695230293317	0.63790	0.32102	0.24503	N	AEFDBI	0.032026	0.03539	N	-0.229534372334008	0.31927	1.795231	-0.330148267074006	0.27130	1.503294	1.8729077676577E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	2.6	0.30173	0.205000	0.17154	-0.670000	0.07939	-0.410000	0.05266	0.947000	0.32937	0.006000	0.19429	0.132000	0.19645	0.0:0.8754:0.0:0.1246	7.055	0.24272	524	0.74079	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	40.01	49	chr16	75694514	.	C	A	40.01	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.167;MQ=60.00;QD=20.01;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	12
chr16	81365421	81365421	C	T	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon8:c.C806T:p.A269V	Giant axonal neuropathy-1, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	260130	Giant_axonal_neuropathy_1|Inborn_genetic_diseases|not_provided|GAN-related_disorder	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.003	U	0.999	N	0	N	-0.9	T	-0.928	T	0.122	T	0.032	1.074	9.386	1.92	1.080	1.829	0.394	0.169	0.00698229992254	0.0018	0.000798722	0.0016	0.0003	0.0005	0	0.0006	0.0025	0.0033	0.0009	0.0016106	249	154602	rs146576740	0.0024	0.0024	0.0023	0.0024	0.0066	0.0023	0.0023	0.0049	0.0044	0.0003	0.0008	0.0063	0	0.0006	0.0066	0.0026	0.0025	0.0010	0.0016	0.0016	0.0017	0.0015	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0004	0.0049	0	0.0005	0.0137	0.0029	0.0029	0.0004	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.003040	0.00935	U	6.382080	0.998759	0.21933	N	0	0.06538	N	.	.	.	.	.	.	0.189	0.20660	-0.9280	0.44429	T	0.122	0.42441	T	10	0.005330026	0.00117	T	0.006982	0.18485	T	.	.	.	.	0.578358932345	0.57506	0.1521723545216214	0.15139	0.117023510789	0.13191	0.303755044937	0.10963	T	0.203817	0.56240	T	-0.655028	0.00067	T	-0.719537	0.04818	T	0.00949088217655487	0.00122	T	0.531447	0.17660	T	0.02507069	0.01405	0.05703459	0.10296	0.02507069	0.01404	0.05703459	0.10296	-3.859	0.21689	T	.	.	0.059	0.00847	B	.;.	.;.	2.314733	0.29634	18.18	0.91099192627316949	0.20352	0.61644	0.31545	D	AEFGBI	0.068096	0.13418	N	-0.712853772984774	0.15660	0.7911482	-0.526383153771703	0.21437	1.159715	0.948983700656583	0.27825	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.69	1.92	0.24912	0.796000	0.26646	3.573000	0.39130	-0.167000	0.11441	0.997000	0.40164	1.000000	0.68203	0.860000	0.40782	0.2989:0.1644:0.137:0.3997	0.394	0.00386	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1883.98	44	chr16	81365421	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=1000;ExcessHet=0.0000;FS=5.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.710e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:74,81:155:99:1898,0,1787	20	0	1	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V,	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	.	3	1438	76	5	0	86	0.0290344	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	N	1.000	D	-0.34	N	-2.54	D	-0.711	T	0.248	T	0.16	-0.417	2.054	4.01	0.809	3.139	9.248	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	983.98	34	chr16	81912673	.	A	G	983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=799;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.082;SOR=0.728	GT:AD:DP:GQ:PL	0/1:43,43:86:99:998,0,993	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:69,47,0,0,0,0:116:99:1730,0,2684,1942,2826,4768,1942,2826,4768,4768,1942,2826,4768,4768,4768,1942,2826,4768,4768,4768,4768	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:69,47,0,0,0,0:116:99:1730,0,2684,1942,2826,4768,1942,2826,4768,4768,1942,2826,4768,4768,4768,1942,2826,4768,4768,4768,4768	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:69,47,0,0,0,0:116:99:1730,0,2684,1942,2826,4768,1942,2826,4768,4768,1942,2826,4768,4768,4768,1942,2826,4768,4768,4768,4768	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:69,47,0,0,0,0:116:99:1730,0,2684,1942,2826,4768,1942,2826,4768,4768,1942,2826,4768,4768,4768,1942,2826,4768,4768,4768,4768	4	4	6	0
chr16	88738240	88738240	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon7:c.G835A:p.G279S,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	411	1108	3	0	0	3	0.00135196	.	.	726912	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.001	B	.	.	1.000	N	-0.49	N	-0.38	T	-0.990	T	0.022	T	0.022	0.585	7.159	-5.0	-1.319	-0.359	9.919	0.042	.	.	0.00359425	0.0033	0.0148	0.0069	0	0	0	0	0.0037	0.0005304	82	154602	rs188815734	0.0006	0.0006	0.0006	0.0007	0.0097	0.0006	0.0006	0.0088	0.0085	0.0097	0.0009	3.973e-05	0.0003	2.971e-05	0.0018	0.0001	0.0011	0.0037	0.0030	0.0030	0.0031	0.0030	0.0097	0.0028	0.0027	0.0090	0.0086	0.0097	0	0.0014	0	0.0006	0	0	0.0002	0.0019	0.0039	0.58	0.05992	T	0.292	0.20877	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.38	0.12130	N	-0.38	0.69027	T	1.01	0.01387	N	0.017	0.00226	-0.9904	0.32500	T	0.022	0.09193	T	9	0.0032779276	0.00056	T	.	.	.	0.042	0.11227	.	.	0.0675242888579	0.06100	0.1771256479925839	0.17631	.	.	0.347822785378	0.17601	T	0.002529	0.01924	T	-0.643481	0.00079	T	-0.68913	0.06439	T	0.00131227781949194	0.00013	T	0.751225	0.37284	T	0.015154024	0.00125	0.047152527	0.06730	0.015154024	0.00125	0.047152527	0.06729	-0.231	0.00442	T	0.08467022450052335	0.04696	0.069	0.03128	B	.	.	-0.088328	0.03712	0.759	0.94037899030364402	0.24158	0.01226	0.04342	N	AEFBCI	0.041077	0.06195	N	-1.00370575188657	0.08526	0.4001146	-1.12078851909607	0.07303	0.3547438	0.983338816414357	0.30543	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.78	-5.0	0.02777	-1.065000	0.03569	-2.459000	0.03728	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.0:0.2756:0.1034:0.6211	9.919	0.40624	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	0	0	0.02381	1519.98	90	chr16	88738240	.	C	T	1519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=1394;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.704;SOR=0.697	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1534,0,1437	20	0	1	0
chr16	89198301	89198301	C	T	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001366322:exon7:c.G689A:p.R230H	.	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169047401482	.	0.00139776	0.0011	0	0	0	0	0.0006	0	0.0016	0.000304	47	154602	rs565200064	0.0007	0.0007	0.0007	0.0008	0.0116	0.0007	0.0007	0.0093	0.0085	0.0026	0.0008	0	0	5.939e-05	0.0116	0.0006	0.0013	0.0014	0.0011	0.0011	0.0012	0.0011	0.0025	0.0010	0.0010	0.0021	0.0020	0.0025	0	0.0007	0	0	0	0.0034	0.0006	0.0024	0.0019	.	.	.	0.304	0.20100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.04426	.	.	.	.	.	.	.	0.004519403	0.00093	T	0.016905	0.38384	T	.	.	.	.	0.238705975628	0.23479	.	.	.	.	0.301489889622	0.10622	T	.	.	.	-0.405957	0.02115	T	-0.361453	0.37883	T	.	.	.	0.645335	0.25688	T	0.033002783	0.03432	0.10148256	0.24295	0.033002783	0.03432	0.10148256	0.24294	-5.323	0.40170	T	.	.	.	.	.	.;.	.;.	1.008123	0.13867	10.43	0.73818498138907052	0.10466	0.89073	0.49324	D	AEFDBHCI	0.099839	0.20089	N	.	.	.	.	.	.	0.999963732035449	0.48965	0.252514	0.04256	0	0.060609	0.00678	0	0.295636	0.05589	0	0.092715	0.02821	0	.	.	3.58	-1.83	0.07410	0.349000	0.19801	-4.028000	0.02385	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.199000	0.21867	0.0:0.5946:0.0:0.4054	9.792	0.39878	819	0.41190	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1121.98	35	chr16	89198301	.	C	T	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.003e+00;DP=809;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.319e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1136,0,1262	20	0	1	0
chr16	89222140	89222140	A	G	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon3:c.A74G:p.Q25R	.	.	429	1071	22	0	0	22	0.0101664	.	.	726936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.228	B	0.017	B	.	.	1.000	N	0	N	3.36	T	-0.926	T	0.008	T	0.127	1.091	9.452	1.18	0.800	0.025	4.560	0.014	0.000886800849996	0.0012	0.00199681	0.0016	0.0027	0.0020	0	0.0002	0.0018	0.0011	0.0012	0.0015006	232	154602	rs201528958	0.0011	0.0011	0.0010	0.0012	0.0115	0.0010	0.0010	0.0093	0.0085	0.0030	0.0026	0.0095	0	3.752e-05	0.0115	0.0007	0.0027	0.0012	0.0020	0.0020	0.0021	0.0020	0.0037	0.0019	0.0018	0.0030	0.0027	0.0031	0	0.0037	0.0084	0	0	0.0238	0.0011	0.0043	0.0021	0.052	0.55530	T	0.024	0.56640	D	0.228	0.30509	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.36	0.05918	T	-0.7	0.34397	N	0.268	0.31925	-0.9262	0.44688	T	0.008	0.02801	T	9	0.0056599677	0.00126	T	8.87E-4	0.00822	T	0.014	0.01968	.	.	0.346544149963	0.34258	0.03974746071075669	0.03920	0.00476531076772	0.00421	0.342798918486	0.16856	T	0.001643	0.01075	T	-0.636646	0.00087	T	-0.691889	0.06281	T	0.00130728525888588	0.00013	T	0.0537946	0.00385	T	0.034975912	0.04029	0.05723114	0.10366	0.034975912	0.04028	0.05723114	0.10366	-2.761	0.07830	T	.	.	0.124	0.26138	B	.;.;.	.;.;.	-0.112006	0.03571	0.691	0.96231090618368786	0.29119	0.01444	0.04845	N	AEFBI	0.024976	0.01634	N	-1.06373882354058	0.07320	0.3396984	-1.12910751385911	0.07148	0.3466407	0.00405546609443816	0.10397	0.562547	0.31514	0	0.636889	0.57051	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.18	1.18	0.20058	0.650000	0.24544	1.829000	0.29100	-0.059000	0.16651	0.001000	0.13787	0.001000	0.17328	0.095000	0.18041	1.0:0.0:0.0:0.0	4.560	0.11553	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	832.98	36	chr16	89222140	.	A	G	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=786;ExcessHet=0.0000;FS=6.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.846;SOR=1.188	GT:AD:DP:GQ:PL	0/1:36,34:70:99:847,0,923	20	0	1	0
chr16	89281033	89281033	G	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C5509T:p.P1837S	KBG syndrome, Autosomal dominant	.	0	1478	43	1	0	45	0.014995	.	.	580086	ANKRD11-related_disorder|KBG_syndrome|not_specified|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.9	T	0.002	B	0.003	B	0.065	N	1.000	N	0.46	N	1.3	T	-1.005	T	0.025	T	0.031	-0.660	1.106	-1.28	0.019	0.813	5.962	0.019	.	0.0042	0.00199681	0.0040	0.0008	0.0038	0	0.0038	0.0055	0.0059	0.0022	0.0038551	596	154602	rs145906515	0.0032	0.0033	0.0031	0.0033	0.0325	0.0032	0.0031	0.0287	0.0272	0.0012	0.0050	0.0141	0	0.0048	0.0325	0.0028	0.0051	0.0022	0.0040	0.0040	0.0041	0.0039	0.0093	0.0037	0.0036	0.0081	0.0076	0.0007	0	0.0093	0.0156	0	0.0024	0.0850	0.0045	0.0109	0.0010	0.38	0.11191	T	0.811	0.03933	T	0.002	0.09854	B	0.003	0.08700	B	0.064985	0.21913	N	0.385555	1	0.08975	N	1.445	0.36358	L	1.3	0.35590	T	-0.1	0.08495	N	0.056	0.05542	-1.0053	0.28368	T	0.025	0.10688	T	10	0.0031891763	0.00054	T	.	.	.	0.019	0.03383	.	.	0.213499824651	0.20940	0.03753617685181097	0.03699	0.0990860901721	0.11200	0.280230402946	0.07524	T	0.062284	0.31875	T	-0.651348	0.00071	T	-0.704387	0.05589	T	0.00249692265642688	0.00026	T	0.715028	0.32735	T	0.02164385	0.00778	0.030817764	0.01587	0.023787895	0.01150	0.04176469	0.04822	-3.505	0.16501	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	1.313788	0.17173	13.00	0.89837487977274233	0.19145	0.11940	0.16959	N	AEFBCI	0.048531	0.08291	N	-1.211134778551	0.04837	0.2191572	-1.22349443315435	0.05534	0.2639546	0.994268546997177	0.33559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	-1.28	0.08834	0.906000	0.28140	2.752000	0.34542	0.670000	0.69193	0.116000	0.23103	0.987000	0.30940	0.005000	0.06747	0.2829:0.4378:0.2793:0.0	5.962	0.18540	819	0.41190	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3048.98	60	chr16	89281033	.	G	A	3048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=1136;ExcessHet=0.0000;FS=4.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.170e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:145,118:263:99:3063,0,3749	20	0	1	0
chr16	89708944	89708944	C	A	exonic	VPS9D1	.	nonsynonymous SNV	VPS9D1:NM_004913:exon13:c.G1610T:p.R537L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	1.4	T	-0.566	T	0.242	T	0.882	3.869	19.66	4.94	2.445	2.836	15.232	0.450	0.200812889364	0.0002	.	0.0003	0	0.0002	0.0002	0	0.0003	0	0.0006	0.0001358	21	154602	rs374177055	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	3.011e-05	6.91e-05	0	0	0	0	0.0003	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0008	7.572e-05	6.278e-05	0.0003	0.0002	2.406e-05	0	6.534e-05	0	0	0	0	0.0002	0	0.0008	0.004	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999948	0.51968	D	2.55	0.74443	M	1.4	0.33630	T	-4.64	0.79316	D	0.948	0.95608	-0.5660	0.66173	T	0.242	0.61048	T	10	0.8220252	0.81401	D	0.200813	0.86730	D	0.450	0.75074	.	.	0.699922791804	0.69732	0.6281645251927718	0.62749	0.725458366015	0.62450	0.728460133076	0.71282	T	0.325108	0.69585	T	-0.0183756	0.49085	T	0.0446958	0.73236	D	0.774356305599213	0.44703	D	0.918608	0.70760	D	0.6895849	0.77489	0.5804687	0.75683	0.6895849	0.77490	0.5804687	0.75684	-15.272	0.96458	D	.	.	0.824	0.78437	P	.;.	.;.	4.030502	0.59597	24.1	0.9981483713826661	0.89797	0.92273	0.55333	D	AEFDBI	0.554643	0.56540	D	0.505055934418261	0.67389	5.075032	0.396782709578155	0.61366	4.335715	0.999999999174752	0.74766	0.706298	0.61202	0	0.694456	0.67091	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	2.298000	0.43262	5.800000	0.49930	0.580000	0.29708	0.060000	0.21767	0.995000	0.32472	0.512000	0.29290	0.0:1.0:0.0:0.0	15.232	0.73087	693	0.58582	VPS9 domain|VPS9 domain|VPS9 domain;VPS9 domain|VPS9 domain|VPS9 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	569.98	37	chr16	89708944	.	C	A	569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-2.560e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:40,25:65:99:584,0,913	20	0	1	0
chr17	997239	997239	G	C	exonic	TIMM22	.	nonsynonymous SNV	TIMM22:NM_013337:exon1:c.G97C:p.V33L,	.	.	422	1090	10	0	0	10	0.00456621	.	.	858219	not_provided|Combined_oxidative_phosphorylation_deficiency_43	MedGen:C3661900|MONDO:MONDO:0030017,MedGen:C5394284,OMIM:618851	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.363	B	0.055	B	0.000	D	0.999	D	1.845	L	0.88	T	-1.044	T	0.081	T	0.424	3.857	19.59	5.42	2.529	4.378	18.253	0.098	0.0482639772576	0.0058	0.00239617	0.0042	0.0007	0.0032	0	0.0010	0.0067	0.0059	0.0004	0.0041397	640	154602	rs149879547	0.0064	0.0064	0.0067	0.0062	0.0076	0.0063	0.0063	0.0074	0.0074	0.0015	0.0043	0.0083	0	0.0009	0.0047	0.0076	0.0069	0.0003	0.0043	0.0043	0.0050	0.0037	0.0071	0.0041	0.0039	0.0065	0.0063	0.0013	0.0307	0.0040	0.0046	0	0.0008	0.0034	0.0071	0.0047	0.0004	0.032	0.44694	D	0.125	0.35330	T	0.363	0.33965	B	0.055	0.25995	B	0.000004	0.62929	D	0.105878	0.999001	0.45857	D	1.955	0.52871	M	0.88	0.46028	T	-1.27	0.31981	N	0.39	0.43126	-1.0442	0.16059	T	0.081	0.31884	T	10	0.008468449	0.00192	T	0.048264	0.63296	D	0.098	0.28162	0.273	0.22369	0.341226946553	0.33730	0.7056253133426754	0.70504	0.184690802408	0.20768	0.700864195824	0.67268	T	0.061289	0.31614	T	-0.405002	0.02146	T	-0.349406	0.39272	T	0.0571300150713314	0.06710	T	.	.	.	0.6603359	0.75917	0.6884471	0.81673	0.6603359	0.75918	0.6884471	0.81674	-2.293	0.04517	T	.	.	0.364	0.57492	A	.	.	3.398699	0.47086	22.4	0.99347660807821203	0.60452	0.89248	0.49599	D	AEFGBHCI	0.625538	0.60870	D	0.136871097982309	0.48190	3.034538	0.274444201248571	0.54050	3.571392	0.999999999999438	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.42	5.42	0.78666	4.421000	0.59598	11.605000	0.93504	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.253	0.89947	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	33	chr17	997239	.	G	C	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=817;ExcessHet=0.0000;FS=2.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=0.134;SOR=0.980	GT:AD:DP:GQ:PL	0/1:73,39:112:99:889,0,1808	20	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	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	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	0/1:48,53,0:101:99:1200,0,1234,1344,1393,2737	14	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,147,69:216:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:7632,2188,2350,4585,0,4189:4933876	1	2	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,147,0:216:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:5444,0,162,5117,342,5245:4933876	0	10	6	1
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,12,18:130:48:.:.:48,190,4406,0,2904,2849	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,12,18:130:48:.:.:48,190,4406,0,2904,2849	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	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	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:100,12,18:130:48:.:.:48,190,4406,0,2904,2849	11	0	4	3
chr17	7508957	7508957	G	A	exonic	POLR2A	.	nonsynonymous SNV	POLR2A:NM_000937:exon21:c.G3479A:p.R1160H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.869	P	0.362	B	0.000	D	1.000	D	3.14	M	-0.31	T	-0.033	T	0.387	T	0.57	4.802	27.1	5.51	2.611	8.914	18.253	0.413	0.0240717220099	0.0002	.	4.12e-05	9.61e-05	8.637e-05	0.0001	0	1.5e-05	0	6.06e-05	3.23e-05	5	154602	rs368844855	9.872e-06	8.209e-06	1.305e-05	6.64e-06	6.008e-05	5.26e-06	4.16e-06	2.355e-05	1.474e-05	3.802e-05	5.363e-05	0	5.95e-05	0	0	3.145e-06	0	6.008e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	6.552e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	6.552e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2084.98	44	chr17	7508957	.	G	A	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1336;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.679;SOR=0.885	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2099,0,2051	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,2,0,0:51:68:2423,164,0,2278,164,2220,2025,68,1995,1930,2278,164,2220,1995,2220,2278,164,2220,1995,2220,2220	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,2,0,0:51:68:2423,164,0,2278,164,2220,2025,68,1995,1930,2278,164,2220,1995,2220,2278,164,2220,1995,2220,2220	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,2,0,0:51:68:2423,164,0,2278,164,2220,2025,68,1995,1930,2278,164,2220,1995,2220,2278,164,2220,1995,2220,2220	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,2,0,0:51:68:2423,164,0,2278,164,2220,2025,68,1995,1930,2278,164,2220,1995,2220,2278,164,2220,1995,2220,2220	0	14	0	0
chr17	10516230	10516230	A	G	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon4:c.T317C:p.L106P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	U	1.000	D	4.98	H	-1.97	D	1.061	D	0.884	D	0.996	4.571	24.8	5.39	2.252	9.127	15.569	0.910	0.21347504787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.875e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.001500	0.38855	U	0.000000	1	0.81001	D	4.675	0.99424	H	-1.97	0.85173	D	-5.15	0.83357	D	0.987	0.99548	1.061	0.98357	D	0.884	0.96155	D	10	0.98537827	0.98787	D	0.213475	0.87408	D	0.910	0.97587	0.925	0.98740	0.956215424334	0.95574	0.7267823044300343	0.72622	0.779315368575	0.65198	0.938331007957	0.99391	D	0.977787	0.99797	D	0.451361	0.92542	D	0.410572	0.92449	D	0.999499678611755	0.97632	D	0.979102	0.92705	D	0.97190833	0.98436	0.9723707	0.99564	0.97190833	0.98436	0.9723707	0.99564	-14.824	0.95426	D	.	.	1.000	0.99395	P	.	.	5.405280	0.90499	31	0.99905916669177997	0.97651	0.99123	0.91564	D	AEFHI	0.955661	0.97366	D	1.14214162137844	0.98842	19.57932	1.01142756519429	0.98836	19.55657	0.999999927540271	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	9.313000	0.95362	11.184000	0.88420	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.569	0.76062	209	0.91859	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3398.98	36	chr17	10516230	.	A	G	3398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.724e+00;DP=994;ExcessHet=0.0000;FS=0.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.099e+00;SOR=0.628	GT:AD:DP:GQ:PL	0/1:148,129:277:99:3413,0,4266	20	0	1	0
chr17	11854426	11854426	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9931A:p.A3311T,	.	.	421	1093	8	0	0	8	0.00364631	0	0.036	2231942	not_provided|Inborn_genetic_diseases|DNAH9-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.017	B	0.022	B	0.341	N	1.000	N	1.99	M	-1.35	T	-0.825	T	0.321	T	0.116	1.625	11.39	-6.77	-1.149	0.289	10.787	0.199	0.0165919456704	0.0002	0.00119808	0.0009	9.897e-05	0.0010	0	0	0.0002	0.0012	0.0057	0.0007438	115	154602	rs139176958	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.996e-05	0.0007	3.873e-05	0	1.876e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.408e-05	0	0.0002	0	0.0002	9.457e-05	0.0034	0.0003	0.0009	0.0054	0.426	0.12109	T	0.437	0.13441	T	0.017	0.17573	B	0.022	0.19653	B	0.340874	0.13965	N	0.710500	1	0.08975	N	1.38	0.34346	L	-1.35	0.80035	T	-1.94	0.45042	N	0.144	0.14622	-0.8245	0.53651	T	0.321	0.68969	T	10	0.0053035915	0.00116	T	0.016592	0.37919	T	0.199	0.48268	.	.	0.311691414656	0.30774	0.06991057062677458	0.06929	0.0872234964637	0.09831	0.215966016054	0.01090	T	0.196887	0.67158	T	-0.487925	0.00667	T	-0.472142	0.25286	T	0.0122225140822567	0.00197	T	0.80032	0.44603	T	0.042935245	0.06603	0.07626091	0.16872	0.043369338	0.06745	0.08129773	0.18463	-6.04	0.46613	T	.	.	0.068	0.02639	B	.;.;.	.;.;.	0.320326	0.06949	3.496	0.91704226793336741	0.20998	0.09032	0.14867	N	AEFBI	0.121297	0.23589	N	-1.18035635800702	0.05297	0.2411523	-1.26361198420955	0.04932	0.2338548	2.73436185864375E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	-6.77	0.01565	0.422000	0.21016	-4.487000	0.02131	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.1887:0.0:0.7208:0.0904	10.787	0.45612	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1016.98	41	chr17	11854426	.	G	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.305;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,27:61:99:0|1:11854426_G_A:1031,0,1326:11854426	20	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D,	.	YES	419	1095	8	0	0	8	0.00363967	0.0156	0.184	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.421	B	0.493	P	0.341	N	0.537	D	2.115	M	-1.4	T	-0.054	T	0.523	D	0.273	2.425	14.07	4.48	1.529	2.152	14.183	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	41	chr17	11854427	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.164;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,27:61:99:0|1:11854426_G_A:1031,0,1326:11854426	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:5,4,0:9:99:149,0,195,164,207,371	5	7	8	0
chr17	16690701	16690701	G	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon1:c.G301A:p.A101T	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.544	P	0.066	B	.	.	1.000	N	0.69	N	1.81	T	-1.034	T	0.028	T	0.072	1.008	9.116	-1.08	-0.402	-0.041	.	0.019	.	.	0.00738818	0.0034	9.649e-05	0.0002	0	0	0	0	0.0251	0.002956	457	154602	rs202033635	0.0015	0.0015	0.0008	0.0021	0.0232	0.0014	0.0014	0.0223	0.0220	8.966e-05	2.238e-05	0	0	0	0.0007	9.899e-06	0.0017	0.0232	0.0009	0.0009	0.0005	0.0014	0.0284	0.0008	0.0008	0.0245	0.0231	4.811e-05	0	0	0	0	0	0	2.94e-05	0	0.0284	0.057	0.51853	T	0.068	0.44106	T	0.544	0.37968	P	0.066	0.27432	B	.	.	.	.	1	0.08975	N	.	.	.	1.81	0.25182	T	-0.49	0.15578	N	0.365	0.40665	-1.0338	0.19236	T	0.028	0.11926	T	8	0.0034987926	0.00062	T	.	.	.	0.019	0.03383	0.289	0.24921	0.0297737177859	0.01360	0.015953991304362914	0.01551	.	.	0.501246094704	0.39002	T	0.003216	0.02616	T	-0.674323	0.00052	T	-0.723141	0.04646	T	0.00769879621582408	0.00090	T	0.49875	0.15541	T	0.09779297	0.23057	0.1313374	0.31539	0.09779297	0.23057	0.1313374	0.31538	-3.209	0.12591	T	.	.	0.17	0.42863	B	.;.;.;.	.;.;.;.	0.589461	0.09576	6.354	0.97229480598356655	0.32942	0.00117	0.00738	N	AEFBI	0.034099	0.04165	N	-1.05789732864923	0.07433	0.3452921	-1.23868173906093	0.05301	0.2522346	1.39928512219417E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.542	-1.08	0.09428	0.116000	0.15393	-5.952000	0.01542	-0.460000	0.05117	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	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	0.02381	1757.98	34	chr17	16690701	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.043e+00;DP=897;ExcessHet=0.0000;FS=3.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.678;SOR=0.937	GT:AD:DP:GQ:PL	0/1:81,75:156:99:1772,0,2128	20	0	1	0
chr17	18253331	18253331	T	C	exonic	FLII	.	nonsynonymous SNV	FLII:NM_001256265:exon8:c.A821G:p.N274S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.978	D	0.000	D	1.000	D	1.17	L	1.84	T	-1.086	T	0.095	T	0.221	1.001	9.090	4.69	0.993	4.919	12.019	0.057	0.00806739710097	.	0.000798722	0.0004	0	0	0	0	0	0	0.0027	0.0003105	48	154602	rs571506611	0.0001	0.0001	7.488e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0023	5.255e-05	5.25e-05	3.856e-05	6.718e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.543	0.06735	T	0.64	0.06970	T	0.08	0.24543	B	0.017	0.18140	B	0.000004	0.62929	D	0.141171	0.999996	0.58761	D	1.7	0.43825	L	5.49	0.24841	T	-1.4	0.34596	N	0.214	0.41063	-1.0862	0.06191	T	0.095	0.35897	T	10	0.015763849	0.00331	T	0.008067	0.21393	T	0.057	0.16321	0.285	0.24280	0.351180957027	0.34734	0.3487972502439057	0.34793	0.22874769435	0.25428	0.494423449039	0.38053	T	0.020023	0.62482	T	-0.497596	0.00590	T	-0.493086	0.23067	T	0.0859958175334715	0.10735	T	.	.	.	0.061862875	0.12859	0.07532413	0.16570	0.061862875	0.12859	0.07532413	0.16569	-6.466	0.50617	T	.	.	0.082	0.18372	B	.;.;.;.;.	.;.;.;.;.	2.670838	0.34820	19.73	0.87453127186192214	0.17238	0.96777	0.70884	D	AEFDGBI	0.597582	0.59131	D	0.0310612955031943	0.43272	2.623418	0.114843368886389	0.45307	2.796196	0.999990124533942	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.69	0.58546	4.897000	0.62918	1.542000	0.27234	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.068:0.0:0.932	12.019	0.52627	210	0.91826	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	35	chr17	18253331	.	T	C	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=833;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-1.262e+00;SOR=0.847	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1314,0,1258	20	0	1	0
chr17	18488990	18488990	C	A	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon5:c.C494A:p.S165Y,	.	.	566	946	9	1	0	11	0.00578035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.048	B	0.02	B	0.410	N	1.000	N	0.805	L	3.9	T	-0.909	T	0.009	T	0.277	1.224	9.966	0.888	0.514	-0.008	4.256	0.016	.	8e-05	.	0.0080	0.0003	0.0007	0.0002	0	3.451e-05	0.0038	0.0553	0.0056468	873	154602	rs140117613	0.0033	0.0033	0.0018	0.0048	0.0518	0.0032	0.0032	0.0505	0.0499	9.141e-05	0.0003	0	0	0	0.0010	8.133e-05	0.0027	0.0518	0.0017	0.0019	0.0008	0.0027	0.0538	0.0015	0.0015	0.0480	0.0458	0.0002	0	7.16e-05	0	0.0004	0	0	3.323e-05	0.0005	0.0538	0.216	0.19225	T	0.425	0.13912	T	0.048	0.22112	B	0.02	0.19048	B	0.409581	0.13015	N	0.687394	1	0.08975	N	0.345	0.11182	N	3.9	0.03516	T	-1.84	0.43149	N	0.301	0.34012	-0.9092	0.46952	T	0.009	0.03011	T	10	0.0032287538	0.00055	T	.	.	.	0.016	0.02506	.	.	0.0675242888579	0.06100	0.20267648041994385	0.20184	.	.	0.324178785086	0.14053	T	0.008739	0.08002	T	-0.475863	0.00782	T	-0.603248	0.12539	T	0.00665965076774264	0.00075	T	.	.	.	0.08128179	0.18668	0.09517238	0.22561	0.08128179	0.18668	0.09517238	0.22561	-6.086	0.46993	T	.	.	0.158	0.34906	B	.	.	1.553701	0.19911	14.50	0.80500866301759122	0.13233	0.02474	0.06938	N	AEFI	0.095095	0.19219	N	-1.11481828005475	0.06379	0.293468	-1.14608540016966	0.06838	0.3305529	1.26559086579658E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	2.96	0.888	0.18340	0.049000	0.13983	0.150000	0.15280	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.0:0.6566:0.0:0.3434	4.256	0.10165	745	0.52414	.	.	.	.	.	.	Likely benign	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	0.02381	822.98	33	chr17	18488990	.	C	A	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.079e+00;DP=985;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.05;MQRankSum=-2.695e+00;QD=4.99;ReadPosRankSum=-1.431e+00;SOR=0.555	GT:AD:DP:GQ:PL	0/1:120,45:165:99:837,0,3152	20	0	1	0
chr17	21415419	21415419	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C77T:p.S26L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.09	B	0.032	B	0.000	D	0.865	D	0	N	1.46	T	-1.059	T	0.047	T	0.238	2.844	15.47	5.33	2.506	4.941	19.026	0.056	0.00646703683005	.	.	9.924e-05	9.653e-05	0	0	0	0.0001	0	0.0002	.	.	.	rs782612333	5.475e-05	9.577e-05	4.63e-05	6.327e-05	6.71e-05	4.478e-05	4.149e-05	4.9e-05	4.484e-05	0	6.71e-05	0	2.519e-05	3.774e-05	0	6.116e-05	1.656e-05	5.798e-05	9.85e-05	0.0001	0.0001	8.064e-05	0.0002	6.003e-05	4.877e-05	0.0001	8.875e-05	2.411e-05	0	6.539e-05	0	0	0	0	0.0002	0	0	0.043	0.41364	D	0.488	0.11621	T	0.09	0.25173	B	0.032	0.22131	B	0.000213	0.47681	D	0.183705	0.864556	0.35449	D	0.425	0.12573	N	1.46	0.32238	T	-0.98	0.25986	N	0.061	0.22228	-1.0589	0.12032	T	0.047	0.20156	T	10	0.15987286	0.30028	T	0.006467	0.17043	T	0.056	0.15993	.	.	0.435371449458	0.43157	0.6261842366659136	0.62551	0.131672773862	0.14847	0.522273302078	0.41946	T	0.015069	0.12713	T	-0.131779	0.31208	T	-0.427068	0.30269	T	0.254327803850174	0.23066	T	0.959204	0.84623	D	0.6770482	0.76810	0.7309473	0.84102	0.6770482	0.76812	0.7309473	0.84103	-5.383	0.40756	T	.	.	0.086	0.11461	B	.;.	.;.	4.031096	0.59609	24.1	0.99791864586098777	0.87750	0.91070	0.52801	D	AEFDGBHI	0.664846	0.63387	D	-0.134107633318154	0.35912	2.068966	0.0802075332521814	0.43554	2.654784	0.999999999950567	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	5.33	0.75683	4.992000	0.63624	6.002000	0.52504	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.026	0.92912	856	0.34373	Potassium channel, inwardly rectifying, Kir, N-terminal;Potassium channel, inwardly rectifying, Kir, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2234.98	292	chr17	21415419	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=6791;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.86;MQRankSum=-5.967e+00;QD=4.26;ReadPosRankSum=-1.517e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/1:406,119:525:99:2249,0,11206	20	0	1	0
chr17	32995583	32995583	T	C	exonic	SPACA3	.	nonsynonymous SNV	SPACA3:NM_173847:exon2:c.T209C:p.M70T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.001	B	0.110	N	1.000	N	0.345	N	-0.19	T	-1.035	T	0.113	T	0.042	0.032	4.180	-4.75	-0.661	-1.713	6.512	0.081	0.0169776042171	7.7e-05	.	1.648e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs373641880	4.104e-06	4.104e-06	0	8.25e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.017	0.60337	D	0.0	0.02946	B	0.001	0.04355	B	0.110385	0.02634	N	2.240520	1	0.81001	D	1.085	0.27262	L	-0.18	0.65931	T	0.0	0.07008	N	0.073	0.04668	-1.0347	0.18951	T	0.113	0.40399	T	10	0.11667016	0.22014	T	0.016978	0.38486	T	0.081	0.23632	.	.	0.199424873507	0.19547	0.2687897984617369	0.26791	0.0868907429692	0.09802	0.308777153492	0.11722	T	0.002668	0.02055	T	-0.387687	0.02784	T	-0.697808	0.05946	T	0.0893057214933222	0.11134	T	0.9	0.65058	D	0.035170574	0.04089	0.089754626	0.21007	0.035170574	0.04089	0.089754626	0.21006	-8.657	0.65464	D	.	.	0.067	0.02609	B	.;.	.;.	-0.706690	0.01305	0.070	0.25183385749729964	0.01149	0.00448	0.02174	N	AEFDBI	0.031856	0.03487	N	-1.34249776745351	0.03203	0.1426935	-1.43336845271044	0.02924	0.1354382	0.982904082326201	0.30474	0.500041	0.20204	0	0.547309	0.14657	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	3.63	-4.75	0.03003	-2.835000	0.00810	-2.317000	0.03908	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4914:0.3441:0.1645	6.512	0.21423	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1487.98	34	chr17	32995583	.	T	C	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=852;ExcessHet=0.0000;FS=1.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.392;SOR=0.876	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1502,0,1557	20	0	1	0
chr17	36437931	36437931	G	C	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.C51G:p.D17E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.714	P	0.267	B	0.168	N	1.000	N	0.945	L	1.47	T	-1.040	T	0.038	T	0.108	-0.761	0.783	.	.	-0.205	.	0.060	0.0126178259569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.416e-06	2.058e-06	0	2.838e-06	1.844e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.844e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.16522	T	.	.	.	.	.	.	0.167812	0.17465	N	0.534152	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-1.0402	0.17253	T	0.038	0.16548	T	7	0.10981706	0.20501	T	0.012618	0.31353	T	.	.	0.296	0.26041	0.0482279557977	0.04254	0.009715574982139657	0.00933	.	.	.	.	.	.	.	.	-0.23951	0.15411	T	-0.581816	0.14384	T	0.232943698763847	0.22090	T	0.694431	0.30396	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40683	B	.	.	0.468340	0.08381	5.133	0.69085478263318145	0.08860	0.01837	0.05695	N	AEFI	0.067886	0.13367	N	-0.554203557245633	0.20352	1.07224	-0.615375972667909	0.19098	1.023186	7.69288211797132E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.162000	0.16318	-3.142000	0.03026	0.457000	0.21530	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	.	.	.	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	1579.33	34	chr17	36437931	.	G	C	1579.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.320e-01;DP=1021;ExcessHet=0.0000;FS=7.810;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.17;MQRankSum=-2.504e+00;QD=5.09;ReadPosRankSum=-9.610e-01;SOR=1.122	GT:AD:DP:GQ:PL	0/1:217,93:310:99:1593,0,5028	19	0	1	1
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	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;.	.	.	.	.	.	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	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:52,57:109:99:649,0,459	0	0	21	0
chr17	39670126	39670126	C	T	exonic	PNMT	.	nonsynonymous SNV	PNMT:NM_002686:exon3:c.C586T:p.R196W,	.	.	0	1509	13	0	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.825	P	0.000	D	1.000	D	2.34	M	3.74	T	-1.080	T	0.036	T	0.586	3.493	17.86	-0.465	0.085	-0.192	15.422	0.240	0.0245982482228	0.0002	.	0.0003	9.95e-05	0.0002	0	0	0.0004	0	0.0002	0.0002587	40	154602	rs201626166	0.0002	0.0002	0.0002	0.0002	0.0086	0.0002	0.0002	0.0067	0.0060	0.0003	0.0002	0	0	1.973e-05	0.0086	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.701e-05	0.0001	8.88e-05	9.635e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0002	0.009	0.57480	D	0.006	0.70582	D	0.999	0.77913	D	0.825	0.59331	P	0.000000	0.84330	D	0.000000	0.987599	0.41229	D	2.695	0.78878	M	3.74	0.03951	T	-3.61	0.71157	D	0.597	0.61596	-1.0804	0.07272	T	0.036	0.15596	T	10	0.38279054	0.54319	T	0.024598	0.47587	T	0.240	0.54500	.	.	0.305410167561	0.30157	0.6493785559048777	0.64873	0.872890824669	0.69462	0.518337309361	0.41392	T	0.297124	0.66974	T	-0.339574	0.05417	T	-0.411293	0.32075	T	0.159769579768181	0.17855	T	0.921208	0.71446	D	0.8712809	0.88963	0.5913502	0.76287	0.8712809	0.88965	0.5913502	0.76288	-8.827	0.66576	D	.	.	0.126	0.26700	B	.;.	.;.	3.987160	0.58650	24.0	0.99905822048207549	0.97651	0.21658	0.21479	N	AEFDGBI	0.497268	0.53186	N	0.0289064209920725	0.43173	2.615476	-0.125779092843587	0.34354	1.975183	0.912940667594688	0.26409	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.63947	0.58350	0	.	.	4.94	-0.465	0.11549	-0.164000	0.09972	0.307000	0.17042	0.545000	0.25583	0.009000	0.18154	0.975000	0.29991	0.984000	0.60418	0.594:0.406:0.0:0.0	15.422	0.74746	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	625.98	37	chr17	39670126	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=799;ExcessHet=0.0000;FS=0.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-9.980e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:40,26:66:99:640,0,1134	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,25,0:287:99:0|1:41041286_G_T:257,0,10480,1045,10556,11601:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:257,0,24:281:99:0|1:41041286_G_T:234,1008,11459,0,10452,10379:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,24,0:288:99:0|1:41041341_G_T:129,0,10494,923,10566,11490:41041341	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,23,0:283:99:0|1:41041341_G_T:119,0,10738,902,10807,11709:41041341	16	0	4	0
chr17	41140108	41140108	-	GCCTGCAGC	exonic	KRTAP4-6	.	nonframeshift insertion	KRTAP4-6:NM_030976:exon1:c.379_380insGCTGCAGGC:p.S127delinsCCRP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1730.29	157	chr17	41140108	.	G	GGCCTGCAGC	1730.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.25;DP=4466;ExcessHet=0.0000;FS=28.663;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.37;MQRankSum=-7.622e+00;QD=9.20;ReadPosRankSum=1.34;SOR=2.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,56:188:99:0|1:41140108_G_GGCCTGCAGC:1744,0,4929:41140108	19	0	1	1
chr17	41140110	41140110	-	CTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCAGCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGT	exonic	KRTAP4-6	.	nonframeshift insertion	KRTAP4-6:NM_030976:exon1:c.377_378insACCCCAGTGCTGCCAGTCTGTGTGCTGCCAGCCCACCTGCTGCCGCCCCAGCTGCTGCATCTCCAGCTGCTGTCGCCCCAGCTGCTGTGTGTCCAG:p.R126_S127insPQCCQSVCCQPTCCRPSCCISSCCRPSCCVSR,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1812.29	122	chr17	41140110	.	C	CCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCAGCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGT	1812.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.364;DP=3823;ExcessHet=0.0000;FS=28.249;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.40;MQRankSum=-7.537e+00;QD=9.44;ReadPosRankSum=-9.020e-01;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,58:192:99:0|1:41140108_G_GGCCTGCAGC:1826,0,4925:41140108	19	0	1	1
chr17	41167871	41167871	C	T	exonic	KRTAP4-3	.	nonsynonymous SNV	KRTAP4-3:NM_033187:exon1:c.G302A:p.R101H,	.	.	448	1012	56	6	0	68	0.0325048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.518	P	0.076	B	0.012	U	1.000	N	2.615	M	4.87	T	-0.971	T	0.006	T	0.393	1.992	12.62	1.33	0.088	0.240	5.927	0.108	.	0.0071	0.00698882	0.0079	0.0018	0.0033	0.0004	0.0024	0.0084	0.0076	0.0179	0.0064423	996	154602	rs143200002	0.0038	0.0037	0.0033	0.0042	0.0251	0.0037	0.0036	0.0215	0.0201	0.0012	0.0020	0.0021	7.623e-05	0.0021	0.0251	0.0033	0.0047	0.0129	0.0065	0.0065	0.0066	0.0063	0.0189	0.0061	0.0060	0.0157	0.0146	0.0018	0.0022	0.0053	0.0029	0.0004	0.0016	0.0310	0.0098	0.0114	0.0189	0.061	0.37118	T	0.039	0.51112	D	0.518	0.37483	P	0.076	0.28435	B	0.011693	0.29437	U	0.000000	1	0.08975	N	3.58	0.93551	H	4.87	0.01449	T	-3.2	0.64710	D	0.06	0.03175	-0.9705	0.37094	T	0.006	0.01907	T	10	0.0060154498	0.00135	T	.	.	.	0.108	0.30607	.	.	0.27479166964	0.27093	0.05665735460135568	0.05606	0.0258765225282	0.02640	0.1833358109	0.00128	T	0.034654	0.23405	T	-0.48063	0.00733	T	-0.458182	0.26797	T	0.0535494363800892	0.06113	T	0.114489	0.00870	T	0.08230956	0.18956	0.1222704	0.29494	0.08230956	0.18956	0.1222704	0.29493	-8.921	0.67187	D	.	.	0.218	0.44758	B	.	.	1.382789	0.17947	13.46	0.92627092135174738	0.22097	0.03687	0.08959	N	AEFDBI	0.038029	0.05321	N	-0.509054315330663	0.21786	1.158767	-0.647242879890709	0.18287	0.9762053	1.44131263787327E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.55	1.33	0.20958	-2.123000	0.01406	.	.	0.575000	0.29119	0.000000	0.06391	.	.	0.913000	0.44837	0.1513:0.674:0.0:0.1747	5.927	0.18355	266	0.89551	.	.	.	KRT31	Brain_Cerebellar_Hemisphere	.	Likely benign	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	0.04762	2843.11	39	chr17	41167871	.	C	T	2843.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.696;DP=919;ExcessHet=0.1072;FS=1.573;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.44;MQRankSum=-8.670e-01;QD=12.10;ReadPosRankSum=0.634;SOR=0.718	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1800,0,1689	19	0	2	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	0/1:117,28,0:145:99:787,0,4743,1147,4827,5975	6	11	3	0
chr17	45103718	45103718	G	A	exonic	NMT1	.	nonsynonymous SNV	NMT1:NM_021079:exon10:c.G1174A:p.G392R,	.	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.993	D	0.000	D	1.000	D	2.94	M	0.8	T	-0.216	T	0.345	T	0.634	3.281	17.02	4.43	1.514	7.860	14.220	0.325	0.0608072480976	.	.	3.362e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs779143534	1.164e-05	1.163e-05	5.449e-06	1.79e-05	0.0001	7.09e-06	5.8e-06	8.01e-05	6.246e-05	0	0	0	0	0	0	2.7e-06	3.314e-05	0.0001	1.314e-05	1.313e-05	0	2.691e-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	0.015	0.52492	D	0.009	0.66756	D	1.0	0.90584	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.615	0.76484	M	0.8	0.48769	T	-4.43	0.77554	D	0.725	0.72656	-0.2161	0.77255	T	0.345	0.71004	T	10	0.8220979	0.81408	D	0.060807	0.68123	D	0.325	0.64725	0.674	0.81200	0.5759245713	0.57261	0.8999857965550545	0.89970	2.09006224248	0.94723	0.730839967728	0.71629	T	0.555836	0.85043	D	-0.114929	0.33955	T	-0.166195	0.57790	T	0.955854654312134	0.64611	D	0.90041	0.65400	D	0.58934426	0.72115	0.42742535	0.66488	0.58934426	0.72116	0.42742535	0.66488	-6.71	0.51886	T	.	.	0.192	0.41738	B	.;.	.;.	4.711526	0.75700	26.4	0.99900685622207375	0.97275	0.95810	0.66250	D	AEFGBCI	0.875681	0.79924	D	0.653848194364625	0.76618	6.51993	0.529091703104797	0.69956	5.434924	0.999999999885296	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	4.43	0.52967	8.190000	0.89672	8.733000	0.78189	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.229000	0.22707	0.0712:0.0:0.9288:0.0	14.220	0.65362	657	0.62240	Myristoyl-CoA:protein N-myristoyltransferase, C-terminal;Myristoyl-CoA:protein N-myristoyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2360.98	34	chr17	45103718	.	G	A	2360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=901;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.719;SOR=0.683	GT:AD:DP:GQ:PL	0/1:108,94:202:99:2375,0,2521	20	0	1	0
chr17	52157782	52157782	T	C	exonic	CA10	.	nonsynonymous SNV	CA10:NM_020178:exon1:c.A5G:p.E2G	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	P	0.206	B	.	.	1.000	D	0.345	N	1.76	T	-1.069	T	0.035	T	0.854	2.389	13.95	5.32	2.233	5.637	14.618	0.145	0.00895609369919	.	0.000798722	0.0002	9.61e-05	8.637e-05	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs11655970	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0003	5.975e-05	0.0002	0.0010	0	3.744e-05	0.0009	9.535e-05	0.0004	0.0005	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0004	4.821e-05	0	0.0009	0.0009	0	0	0	0.0001	0.0014	0.0008	0.035	0.43708	D	0.112	0.41742	T	0.779	0.44223	P	0.206	0.37138	B	.	.	.	.	0.911357	0.81001	D	0.345	0.11182	N	1.76	0.25996	T	-0.52	0.16187	N	0.498	0.53181	-1.0689	0.09657	T	0.035	0.15247	T	8	0.057142675	0.06518	T	0.008956	0.23607	T	0.145	0.38592	.	.	0.671091505716	0.66831	0.819130613662359	0.81870	0.450507776248	0.44821	0.801010847092	0.82117	T	0.019447	0.15495	T	-0.129133	0.31636	T	-0.0668901	0.65849	T	0.0908710733056068	0.11321	T	0.720928	0.33404	T	0.11026501	0.26066	0.21098495	0.45508	0.11026501	0.26065	0.21098495	0.45507	-3.472	0.16042	T	.	.	0.100	0.18910	B	.;.;.;.	.;.;.;.	3.514202	0.49230	22.7	0.99321075609649945	0.59393	0.91293	0.53242	D	AEFDBHCI	0.796720	0.72377	D	0.191200827340129	0.50776	3.264504	0.329510715591668	0.57281	3.893232	0.999999999869561	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	5.886000	0.69487	7.768000	0.68418	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.618	0.68164	921	0.19240	.;.;.;.	.	.	.	.	.	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	0.02381	1114.98	34	chr17	52157782	.	T	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=845;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=-2.400e-02;SOR=0.803	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1129,0,1978	20	0	1	0
chr17	58266237	58266237	G	A	exonic	LPO	.	nonsynonymous SNV	LPO:NM_001160102:exon9:c.G1355A:p.R452H	.	.	428	1093	1	0	0	1	0.000457247	.	.	3284219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	0.998	D	3.07	M	-0.55	T	0.118	D	0.552	D	0.761	4.301	22.5	5.08	1.532	1.205	8.316	0.614	0.107868567316	0.0005	0.000199681	0.0005	0	0.0004	0	0.0014	0.0007	0	0.0002	0.0005045	78	154602	rs144914036	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	2.987e-05	0.0004	3.826e-05	2.519e-05	0.0009	0.0007	0.0005	0.0006	0.0003	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0008	0	0	0.0010	0	0.0007	0.0005	0.0002	0.02	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000298	0.46274	D	0.212137	0.99759	0.44019	D	3.165	0.88605	M	-0.55	0.71068	T	-3.55	0.69714	D	0.463	0.51672	0.118	0.84505	D	0.552	0.83593	D	10	0.2064774	0.36910	T	0.107869	0.78414	D	0.614	0.84932	.	.	0.957988079707	0.95753	0.5389930559007877	0.53824	0.816803305336	0.66976	0.435493379831	0.29961	T	0.685653	0.90813	D	-0.0980441	0.36748	T	0.00335791	0.70554	D	0.225530281662941	0.21737	T	0.952005	0.81587	D	0.5457272	0.69717	0.45098782	0.68054	0.5457272	0.69718	0.45098782	0.68054	-8.464	0.64191	D	.	.	0.173	0.54732	B	.;.;.;.	.;.;.;.	5.212178	0.87464	29.2	0.99952680628537804	0.99957	0.81248	0.40692	D	AEFDBHCIJ	0.530623	0.55124	D	0.667136978005332	0.77481	6.683108	0.605679568123698	0.75352	6.295324	0.200164783203943	0.18113	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	6.06	5.08	0.68373	3.012000	0.49262	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0805:0.3021:0.6174:0.0	8.316	0.31263	314	0.87270	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	2631.98	34	chr17	58266237	.	G	A	2631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.049;DP=920;ExcessHet=0.0000;FS=0.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=1.71;SOR=0.757	GT:AD:DP:GQ:PL	0/1:125,111:236:99:2646,0,2984	20	0	1	0
chr17	58980462	58980462	C	T	exonic	PPM1E	.	nonsynonymous SNV	PPM1E:NM_014906:exon7:c.C1699T:p.P567S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.013	B	0.009	B	0.031	N	0.808	N	0.55	N	2.23	T	-1.069	T	0.030	T	0.126	2.160	13.18	3.61	1.443	3.899	13.227	0.036	0.00622595645897	.	0.000199681	2.475e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs577558425	1.094e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.032	0.53426	D	.	.	.	.	.	.	0.031205	0.25200	N	0.447505	0.808485	0.29030	N	.	.	.	2.23	0.18083	T	-0.57	0.17210	N	0.206	0.22870	-1.0690	0.09634	T	0.030	0.12935	T	10	0.04867515	0.04351	T	0.006226	0.16317	T	0.036	0.09122	0.436	0.48828	0.043077524339	0.03247	0.22241287913413685	0.22156	0.13644305551	0.15394	0.362620264292	0.19767	T	.	.	.	-0.417966	0.01763	T	-0.578477	0.14680	T	0.28873473405838	0.24537	T	0.863714	0.56064	D	0.09726221	0.22923	0.10981942	0.26472	0.09726221	0.22922	0.10981942	0.26471	-2.937	0.09518	T	.	.	0.073	0.04558	B	.	.	3.394966	0.47027	22.4	0.99011801068337568	0.50377	0.95755	0.66016	D	AEFGBCI	0.464817	0.51315	N	-0.171343075956891	0.34331	1.958282	0.019091638684188	0.40602	2.425725	0.0606814847199611	0.15205	0.706298	0.61202	0	0.593476	0.48661	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.74	3.61	0.40494	3.062000	0.49664	5.057000	0.47051	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8084:0.1232:0.0685	13.227	0.59349	463	0.78548	.	.	.	.	.	.	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	0.02381	1955.98	34	chr17	58980462	.	C	T	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=843;ExcessHet=0.0000;FS=3.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-8.240e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1970,0,2216	20	0	1	0
chr17	61482948	61482948	C	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1070A:p.A357D	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	D	0.503	P	0.492	N	0.987	D	1.61	L	-2.08	D	-0.109	T	0.656	D	0.54	4.477	24.0	5.51	2.590	5.723	18.412	0.368	0.0547000327402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.187	0.35330	T	0.023	0.18885	B	0.021	0.19346	B	0.491978	0.05041	N	1.281820	0.986714	0.40475	D	1.7	0.43825	L	-2.08	0.86010	D	-0.54	0.16799	N	0.366	0.48319	-0.1090	0.79891	T	0.656	0.88053	D	9	0.2552109	0.42910	T	0.055	0.65957	D	0.368	0.68757	0.151	0.05441	0.933814490104	0.93313	0.2766086613251762	0.27573	0.959871687337	0.72960	0.520578861237	0.41708	T	0.121597	0.44467	T	0.0941023	0.63649	D	-0.102605	0.63196	T	0.929798305034637	0.59408	D	0.877412	0.59112	D	0.31615222	0.54313	0.37981102	0.63028	0.31615222	0.54313	0.37981102	0.63027	-4.286	0.31627	T	.	.	0.237	0.47072	B	.;.;.;.	.;.;.;.	4.399062	0.67958	25.2	0.99754314975508318	0.84537	0.92732	0.56411	D	AEFGBCI	0.776500	0.70959	D	0.289896529528185	0.55635	3.727582	0.393961313615113	0.61191	4.315912	0.999999999918383	0.74766	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.51	5.51	0.81769	5.802000	0.68783	7.644000	0.63345	0.599000	0.40250	0.981000	0.35396	1.000000	0.68203	0.827000	0.38976	0.0:1.0:0.0:0.0	18.412	0.90499	202	0.92131	.;.;.;.	.	.	.	.	.	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	0.02381	74.98	35	chr17	61482948	.	C	A	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.511;DP=796;ExcessHet=0.0000;FS=16.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=-1.270e-01;SOR=3.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,9:105:89:0|1:61482948_C_A:89,0,3934:61482948	20	0	1	0
chr17	61482950	61482950	C	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1072A:p.P358T	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	B	0.016	B	0.001	D	0.914	N	-1.1	N	1.31	T	-1.018	T	0.022	T	0.259	1.150	9.682	0.745	0.280	0.770	3.460	0.050	0.0117602398044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.324	0.18903	T	0.043	0.21573	B	0.016	0.17743	B	0.000572	0.43250	D	0.241563	0.913547	0.27454	N	0.345	0.11182	N	1.31	0.35405	T	-0.48	0.15379	N	0.045	0.01740	-1.0184	0.24236	T	0.022	0.09375	T	9	0.045273572	0.03580	T	0.01176	0.29704	T	0.050	0.13987	0.197	0.10975	0.344251166708	0.34027	0.22064606918352886	0.21979	0.483913800364	0.47323	0.48894956708	0.37292	T	0.050131	0.28506	T	-0.207879	0.19678	T	-0.53638	0.18654	T	0.0987749397754669	0.12221	T	0.855914	0.55137	D	0.054056205	0.10320	0.046087235	0.06345	0.054056205	0.10319	0.046087235	0.06345	-4.83	0.35847	T	.	.	0.059	0.00890	B	.;.;.;.	.;.;.;.	1.648174	0.21029	15.02	0.93836910200670254	0.23827	0.31274	0.24296	N	AEFGBCI	0.161425	0.28748	N	-0.829504460694452	0.12560	0.6129927	-0.686056830634655	0.17309	0.9198068	0.329561285526765	0.19471	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.51	0.745	0.17509	0.772000	0.26309	0.767000	0.21364	0.599000	0.40250	0.356000	0.25809	0.240000	0.23845	0.758000	0.36073	0.0:0.3116:0.2107:0.4778	3.460	0.07095	202	0.92131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	74.98	35	chr17	61482950	.	C	A	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.902e+00;DP=813;ExcessHet=0.0000;FS=16.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.315;SOR=3.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,9:105:89:0|1:61482948_C_A:89,0,3934:61482948	20	0	1	0
chr17	65537801	65537801	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813: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|Hereditary_cancer-predisposing_syndrome|not_specified|AXIN2-related_disorder|not_provided	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.0	B	0.565	N	1.000	N	0	N	-1.56	D	-0.936	T	0.156	T	0.015	-2.200	0.005	1.49	0.454	-0.028	2.543	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1996.98	83	chr17	65537801	.	T	C	1996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.811;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-2.690e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:59,75:134:99:2011,0,1426	20	0	1	0
chr17	70132766	70132766	A	G	exonic	KCNJ16	.	nonsynonymous SNV	KCNJ16:NM_001291623:exon3:c.A679G:p.S227G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.016	N	1.000	N	0.295	N	-3.35	D	-0.570	T	0.509	D	0.034	-0.904	0.431	1.22	-0.073	0.979	6.067	0.111	0.0364138397736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.421	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.016498	0.27965	N	0.414207	0.999999	0.08975	N	0.515	0.13537	N	-3.35	0.94022	D	-0.03	0.07444	N	0.056	0.02759	-0.5704	0.65999	T	0.509	0.81522	D	9	0.06922683	0.09902	T	0.036414	0.56977	D	0.111	0.31313	0.309	0.28128	0.367229591828	0.36328	0.2527376885368229	0.25187	0.0672008464947	0.07511	0.31351774931	0.12438	T	0.358479	0.72503	T	-0.15163	0.28057	T	-0.455583	0.27082	T	0.501608490943909	0.32688	D	0.611639	0.23235	T	0.05430032	0.10398	0.043030396	0.05262	0.05430032	0.10398	0.043030396	0.05262	-4.862	0.35305	T	.	.	0.062	0.01367	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.044814	0.14254	10.83	0.72106430669165966	0.09858	0.10394	0.15913	N	AEFBI	0.177306	0.30454	N	-1.09091531944652	0.06809	0.3145416	-1.04823330831767	0.08744	0.4314039	0.0685673000739364	0.15462	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.84	1.22	0.20300	0.989000	0.29229	1.881000	0.29453	-0.050000	0.17177	0.104000	0.22875	0.294000	0.24182	0.003000	0.05239	0.6284:0.1231:0.2485:0.0	6.067	0.19091	884	0.28482	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1676.98	39	chr17	70132766	.	A	G	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e+00;DP=973;ExcessHet=0.0000;FS=4.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-6.500e-02;SOR=0.811	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1691,0,2538	20	0	1	0
chr17	75594476	75594476	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon9:c.G2879A:p.R960Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971144225	2.223e-06	4.771e-06	4.692e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.829e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	0.987195	0.24542	N	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	0.06473771	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02902	0.20890	T	.	.	.	.	.	.	.	.	.	0.633137	0.24745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.422269	0.31153	18.65	0.52635165382195237	0.04785	0.10305	0.15848	N	AEFGBI	.	.	.	.	.	.	.	.	.	6.83009138750754E-5	0.04366	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.186031	0.04203	0	0.105945	0.23048	5.11	0.909	0.18460	0.112000	0.15312	3.365000	0.37889	-0.845000	0.02763	0.001000	0.13787	1.000000	0.68203	0.007000	0.07825	0.4203:0.0:0.5797:0.0	8.114	0.30091	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	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	0.02381	1247.98	34	chr17	75594476	.	G	A	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.580e-01;DP=1019;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-3.020e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1262,0,1542	20	0	1	0
chr17	75917943	75917943	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon21:c.G2374A:p.E792K,	.	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.067	B	0.015	B	.	.	0.572	N	0.55	N	2.09	T	-1.010	T	0.027	T	0.173	2.230	13.41	-1.05	-0.022	0.434	7.778	0.017	.	0.0007	0.00579073	0.0054	0.0002	0.0016	0	0	0.0014	0.0051	0.0309	0.0033505	518	154602	rs200931077	0.0020	0.0020	0.0014	0.0026	0.0229	0.0019	0.0019	0.0220	0.0217	0.0001	0.0008	0.0079	2.535e-05	1.921e-05	0.0049	0.0005	0.0029	0.0229	0.0014	0.0014	0.0011	0.0017	0.0251	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0008	0.0063	0	0	0.0068	0.0006	0.0028	0.0251	.	.	.	0.242	0.24264	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	0.571568	0.31174	N	0.83	0.20963	L	2.07	0.20387	T	.	.	.	0.21	0.23380	-1.0096	0.27043	T	0.027	0.11663	T	9	0.0032892823	0.00056	T	.	.	.	.	.	.	.	0.178374595973	0.17440	0.526060498412847	0.52530	.	.	0.384982585907	0.22961	T	0.035175	0.23617	T	-0.584967	0.00180	T	-0.595456	0.13196	T	0.0109724181880645	0.00158	T	0.878912	0.59457	D	0.028503684	0.02197	0.09198557	0.21655	0.028503684	0.02196	0.09198557	0.21654	-9.338	0.71400	D	.	.	0.083	0.09143	B	.;.;.	.;.;.	1.349720	0.17571	13.24	0.99304965169442605	0.58759	0.22981	0.21927	N	AEFBHCI	0.092865	0.18795	N	-0.878510925890006	0.11355	0.547524	-0.857239898997625	0.13114	0.6784976	3.55692540363587E-4	0.06668	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-1.05	0.09523	0.509000	0.22414	-0.186000	0.11084	0.587000	0.30956	0.061000	0.21800	0.000000	0.08366	0.596000	0.31288	0.0:0.5678:0.2175:0.2147	7.778	0.28214	828	0.39726	.;.;.	.	.	.	.	.	Likely benign	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	0.02381	886.98	36	chr17	75917943	.	C	T	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=776;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.10;ReadPosRankSum=-3.100e-02;SOR=0.382	GT:AD:DP:GQ:PL	0/1:20,29:49:99:901,0,597	20	0	1	0
chr17	76212479	76212479	C	T	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon2:c.G92A:p.S31N	.	.	439	1032	50	1	0	52	0.0245747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.053	B	0.076	B	0.000	D	1.000	D	-0.485	N	1.35	T	-1.061	T	0.028	T	0.129	0.481	6.609	4.82	1.475	3.764	14.122	0.102	.	0.0014	0.00439297	0.0040	0.0002	0.0028	0.0002	0	0.0024	0.0089	0.0172	0.0035834	554	154602	rs145563025	0.0025	0.0025	0.0019	0.0031	0.0294	0.0024	0.0024	0.0258	0.0244	0.0007	0.0025	0.0070	2.525e-05	9.374e-05	0.0294	0.0012	0.0038	0.0177	0.0020	0.0020	0.0016	0.0024	0.0191	0.0018	0.0017	0.0160	0.0148	0.0002	0	0.0039	0.0069	0.0006	0	0.0170	0.0015	0.0047	0.0191	0.722	0.03903	T	1.0	0.01155	T	0.04	0.22573	B	0.034	0.28435	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.165	0.08973	N	1.35	0.34648	T	1.93	0.00441	N	0.117	0.15469	-1.0613	0.11434	T	0.028	0.11838	T	10	0.0083604455	0.00190	T	.	.	.	0.102	0.29158	.	.	0.474010150167	0.47029	0.43531005608033446	0.43448	0.130603283098	0.14734	0.849575042725	0.89550	D	7.26E-4	0.00333	T	-0.569197	0.00224	T	-0.576109	0.14894	T	0.0164951619601506	0.00413	T	0.791921	0.43410	T	0.23026057	0.45778	0.20029142	0.43953	0.23026057	0.45778	0.20029142	0.43952	1.219	0.00124	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	2.579462	0.33439	19.34	0.38023827303438879	0.02540	0.95870	0.66508	D	AEFGBI	0.533016	0.55264	D	-0.436235635924758	0.24210	1.305587	-0.169370979244719	0.32671	1.861016	0.985398335579897	0.30879	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.79	4.82	0.61641	1.369000	0.33832	.	.	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	14.122	0.64726	946	0.12043	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	669.98	52	chr17	76212479	.	C	T	669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=807;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.598;SOR=0.361	GT:AD:DP:GQ:PL	0/1:19,26:45:99:684,0,518	20	0	1	0
chr17	76240156	76240156	A	C	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon1:c.T85G:p.S29A	.	.	377	1144	1	0	0	1	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.003	B	0.000	D	0.521	D	2.025	M	1.48	T	-0.972	T	0.075	T	0.29	2.780	15.26	3.17	1.435	3.384	9.364	0.101	0.138621118654	.	0.000599042	0.0001	0	0	0	0	3.987e-05	0	0.0016	8.41e-05	13	154602	rs557317893	5.562e-05	6.088e-05	5.657e-05	5.461e-05	0.0019	4.442e-05	4.083e-05	0.0010	0.0007	0	0	0	0	0	0.0019	3.8e-05	4.182e-05	0.0004	5.955e-05	5.919e-05	7.764e-05	4.062e-05	0.0010	3.096e-05	2.224e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	4.434e-05	0	0.0010	0.086	0.32929	T	0.067	0.44302	T	0.0	0.07471	B	0.001	0.08700	B	0.000062	0.52346	D	0.090483	0.520587	0.31893	D	2.265	0.64440	M	1.48	0.31731	T	-1.89	0.44094	N	0.358	0.43995	-0.9718	0.36819	T	0.075	0.30055	T	10	0.02153626	0.00517	T	0.138621	0.82111	D	0.101	0.28911	0.185	0.09388	0.503124787307	0.49949	0.32127972130070287	0.32040	0.112223347074	0.12660	0.860123574734	0.91130	D	0.00845	0.07757	T	-0.35065	0.04686	T	-0.434045	0.29477	T	0.130611514044713	0.15439	T	0.835216	0.50504	T	0.1840348	0.39699	0.13523768	0.32385	0.1840348	0.39699	0.13523768	0.32384	-7.669	0.58820	D	.	.	0.118	0.23986	B	.;.;.;.	.;.;.;.	3.494410	0.48858	22.7	0.9615332539395286	0.28875	0.82965	0.42126	D	AEFDBHCI	0.321981	0.42462	N	-0.172438386532252	0.34285	1.955121	-0.0870928947380112	0.35923	2.084143	0.999999044523321	0.74766	0.72623	0.87236	0	0.662677	0.63036	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.17	3.17	0.35510	3.523000	0.53243	.	.	0.713000	0.85321	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	9.364	0.37375	964	0.07719	.;.;.;.	.	.	.	.	.	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	0.02381	2533.98	37	chr17	76240156	.	A	C	2533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=930;ExcessHet=0.0000;FS=1.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.586;SOR=0.599	GT:AD:DP:GQ:PL	0/1:99,114:213:99:2548,0,2192	20	0	1	0
chr17	78415011	78415011	A	C	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.A1535C:p.Q512P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.031	B	0.014	B	0.003	N	1.000	D	2.395	M	2.57	T	-0.973	T	0.067	T	0.705	2.865	15.54	4.52	1.895	6.835	14.033	0.306	0.0138334544978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.015	0.61642	D	0.031	0.20130	B	0.014	0.16862	B	0.002547	0.00896	N	3.268830	1	0.81001	D	2.73	0.79844	M	2.57	0.13552	T	-4.33	0.76740	D	0.778	0.77507	-0.9733	0.36496	T	0.067	0.27674	T	10	0.6591975	0.70053	D	0.013833	0.33526	T	0.306	0.62729	0.445	0.50302	0.465721554213	0.46197	0.9532397776991482	0.95307	1.35016842697	0.84055	0.556740999222	0.46807	T	0.365316	0.73075	T	0.0354514	0.56447	T	-0.186853	0.55885	T	0.967596411705017	0.67960	D	0.89771	0.64209	D	0.7117287	0.78702	0.69613236	0.82108	0.7117287	0.78703	0.69613236	0.82109	-14.498	0.94562	D	.	.	0.905	0.83119	P	.	.	3.868602	0.56145	23.7	0.97904519598220141	0.36766	0.98330	0.81695	D	AEFDBI	0.847686	0.76453	D	0.126897220986305	0.47720	2.993807	0.233067912686362	0.51692	3.34951	0.999999999986593	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.52	4.52	0.54797	6.811000	0.75010	6.854000	0.56746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	1.0:0.0:0.0:0.0	14.033	0.64147	856	0.34373	.	.	.	.	.	.	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	0.02381	681.98	36	chr17	78415011	.	A	C	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=779;ExcessHet=0.0000;FS=3.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.501;SOR=1.179	GT:AD:DP:GQ:PL	0/1:38,32:70:99:696,0,995	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,88,0:166:99:0|1:80090216_G_C:2799,0,2490,3032,2754,5786:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,60,0:117:99:0|1:80090216_G_C:2038,0,1915,2209,2087,4296:80090216	1	7	4	7
chr17	80184089	80184089	G	C	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G526C:p.D176H	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	532351	Autoinflammatory_syndrome|Pityriasis_rubra_pilaris|Psoriasis_2	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.843	P	0.000	D	1.000	D	1.7	L	1.32	T	-0.902	T	0.085	T	0.307	3.629	18.46	3.58	1.708	5.450	14.275	0.081	.	0.0002	0.00459265	0.0050	0	0.0007	0.0338	0.0136	0.0041	0.0110	0.0010	0.0021798	337	154602	rs144475004	0.0013	0.0014	0.0013	0.0013	0.0203	0.0013	0.0012	0.0191	0.0187	0	0	0	0.0203	0.0101	0.0003	0.0004	0.0017	0.0004	0.0019	0.0019	0.0014	0.0023	0.0193	0.0017	0.0016	0.0162	0.0151	4.809e-05	0	6.532e-05	0	0.0193	0.0114	0	0.0008	0.0009	0.0008	0.032	0.44694	D	0.007	0.69154	D	0.995	0.67487	D	0.843	0.60313	P	0.000120	0.50451	D	0.169696	0.997655	0.44071	D	2.52	0.73523	M	1.32	0.35219	T	-0.73	0.20576	N	0.252	0.28498	-0.9018	0.47803	T	0.085	0.33071	T	10	0.0063112676	0.00142	T	.	.	.	0.081	0.23632	.	.	0.731234310907	0.72884	0.260509316752053	0.25964	0.61528847301	0.56016	0.668275952339	0.62591	T	0.023193	0.17750	T	-0.446277	0.01188	T	-0.398886	0.33512	T	0.0517372781501264	0.05801	T	0.794521	0.43681	T	0.14853631	0.33907	0.18845627	0.42137	0.14513782	0.33283	0.21749687	0.46416	-9.193	0.69469	D	0.7538170294554659	0.83585	0.379	0.58352	A	.;.;.;.	.;.;.;.	4.327703	0.66282	24.9	0.99514570212142561	0.68858	0.88260	0.48108	D	AEFDBI	0.610436	0.59926	D	0.476682439432115	0.65732	4.859522	0.420290595177596	0.62829	4.505288	0.99961470524687	0.40981	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	3.58	0.40133	5.194000	0.64964	6.648000	0.56206	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.0:1.0:0.0	14.275	0.65723	884	0.28482	.;.;.;.	.	.	.	.	.	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	0.02381	2884.98	34	chr17	80184089	.	G	C	2884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=960;ExcessHet=0.0000;FS=5.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.217;SOR=0.752	GT:AD:DP:GQ:PL	0/1:125,113:238:99:2899,0,3264	20	0	1	0
chr17	81447417	81447417	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.G3545A:p.R1182Q	.	.	348	1150	22	2	0	26	0.011178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.01	B	0.001	B	0.374	N	1.000	N	-0.205	N	1.95	T	-1.012	T	0.012	T	0.138	0.704	7.756	-6.93	-1.877	-1.076	3.603	0.008	.	0.0043	0.00439297	0.0156	0.0012	0.0117	0	0.0084	0.0150	0.0333	0.0272	0.0057955	896	154602	rs199884694	0.0069	0.0069	0.0060	0.0076	0.0180	0.0067	0.0066	0.0171	0.0168	0.0008	0.0045	0.0024	8.678e-05	0.0046	0.0120	0.0065	0.0067	0.0180	0.0041	0.0041	0.0038	0.0044	0.0178	0.0039	0.0037	0.0148	0.0137	0.0006	0	0.0050	0.0014	0	0.0020	0.0068	0.0059	0.0043	0.0178	1.0	0.00964	T	0.632	0.07842	T	0.01	0.15535	B	0.001	0.04355	B	0.373526	0.04376	N	1.526110	1	0.08975	N	.	.	.	1.95	0.22474	T	0.36	0.03700	N	0.037	0.01999	-1.0117	0.26385	T	0.012	0.04795	T	10	0.0034368038	0.00060	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.0936116226208851	0.09293	0.0955023009259	0.10790	0.276411950588	0.06997	T	0.00449	0.03897	T	-0.683982	0.00045	T	-0.740989	0.03849	T	0.000299698054142912	0.00002	T	0.70393	0.31399	T	0.020640112	0.00630	0.028903734	0.01172	0.020640112	0.00630	0.028903734	0.01172	-3.052	0.10752	T	.	.	0.073	0.04681	B	.;.	.;.	-0.993927	0.00779	0.025	0.75407940630309567	0.11063	0.01970	0.05966	N	AEFDBHCI	0.025534	0.01764	N	-1.72514891284438	0.00756	0.03266466	-1.79681920255817	0.00769	0.03431136	0.567818122664726	0.21467	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.1	-6.93	0.01480	-0.691000	0.05234	-2.028000	0.04322	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.230000	0.22734	0.2377:0.454:0.2031:0.1051	3.603	0.07576	.	.	.;.	.	.	.	.	.	Likely benign	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	0.02381	702.98	42	chr17	81447417	.	G	A	702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=928;ExcessHet=0.0000;FS=2.266;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=1.65;SOR=0.568	GT:AD:DP:GQ:PL	0/1:30,25:55:99:717,0,869	20	0	1	0
chr17	82036588	82036588	G	C	exonic	DCXR	.	nonsynonymous SNV	DCXR:NM_001195218:exon5:c.C398G:p.S133C	.	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.69	M	1.39	T	-0.530	T	0.265	T	0.878	2.053	12.82	5.12	2.355	9.295	18.529	0.517	0.20138642787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	-3.4	0.94260	D	-4.8	0.80682	D	0.857	0.85343	-0.5300	0.67541	T	0.265	0.63588	T	9	0.97083175	0.96679	D	0.201386	0.86761	D	0.517	0.79400	0.882	0.96934	0.994903219395	0.99485	0.8949845286559115	0.89469	1.11247431182	0.78093	0.645192742348	0.59303	T	0.144388	0.91244	T	0.473773	0.93480	D	0.442766	0.93398	D	0.998606503009796	0.94620	D	0.942906	0.79824	D	0.8713302	0.88967	0.78071874	0.87074	0.8713302	0.88969	0.78071874	0.87074	-10.252	0.75407	D	.	.	0.824	0.78501	P	.;.;.;.	.;.;.;.	4.976572	0.82395	27.8	0.7854438029586901	0.12346	0.97907	0.78031	D	AEFBCI	0.976061	0.99653	D	0.756266032465745	0.83312	7.984775	0.674759268673412	0.80468	7.305227	1.0	0.98316	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.12	5.12	0.69459	9.233000	0.94439	11.479000	0.92885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.0:0.0:1.0:0.0	18.529	0.90934	.	.	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2172.98	34	chr17	82036588	.	G	C	2172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=1241;ExcessHet=0.0000;FS=1.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.969;SOR=0.797	GT:AD:DP:GQ:PL	0/1:105,83:188:99:2187,0,2620	20	0	1	0
chr18	331717	331717	C	T	exonic	COLEC12	.	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.G2014A:p.E672K,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.971	D	0.797	P	0.000	D	1.000	D	1.315	L	2.29	T	-1.207	T	0.057	T	0.602	3.716	18.87	5.73	2.714	3.471	19.882	0.172	0.042539197625	0.0038	0.000599042	0.0025	0.0017	0.0002	0	0.0011	0.0040	0.0022	0.0005	0.0027231	421	154602	rs149622251	0.0045	0.0045	0.0046	0.0043	0.0055	0.0044	0.0043	0.0054	0.0053	0.0006	0.0008	0.0008	0	0.0017	0.0002	0.0055	0.0034	0.0004	0.0025	0.0025	0.0027	0.0022	0.0044	0.0023	0.0022	0.0039	0.0038	0.0010	0	0.0012	0.0009	0	0.0013	0.0034	0.0044	0.0019	0.0004	0.006	0.61437	D	0.155	0.31936	T	0.971	0.57185	D	0.797	0.58061	P	0.000005	0.62929	D	0.104471	0.999998	0.58761	D	1.045	0.26769	L	2.29	0.17113	T	-1.3	0.32590	N	0.516	0.54671	-1.2068	0.00106	T	0.057	0.24018	T	10	0.00739038	0.00168	T	0.042539	0.60515	D	0.172	0.43662	.	.	0.19168177325	0.18762	0.7631545809910755	0.76263	0.258615917293	0.28424	0.510477542877	0.40290	T	0.019415	0.15470	T	-0.43996	0.01294	T	-0.399622	0.33427	T	0.0377702816619225	0.03292	T	0.934107	0.75346	D	0.52545774	0.68572	0.41744578	0.65798	0.52545774	0.68573	0.41744578	0.65798	-6.374	0.49307	T	.	.	0.094	0.14339	B	.	.	2.931257	0.38943	20.9	0.99806926561200193	0.89085	0.95859	0.66460	D	AEFDGBIJ	0.649631	0.62402	D	0.239515481293946	0.53122	3.48263	0.181383646395135	0.48828	3.093542	1.0	0.98316	0.538715	0.22204	0	0.573888	0.26702	0	0.618467	0.43123	0	0.563494	0.21769	0	.	.	5.73	5.73	0.89730	3.532000	0.53310	3.431000	0.38316	0.545000	0.25583	0.938000	0.32564	0.998000	0.33993	0.067000	0.16453	0.0:1.0:0.0:0.0	19.882	0.96900	883	0.28872	C-type lectin-like|C-type lectin-like|C-type lectin-like|CD209-like, C-type lectin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	867.98	33	chr18	331717	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.082e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.781;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,42:88:99:882,0,1156	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:11,520,0:531:99:.:.:15529,1425,0,14531,1578,16648	3	2	4	0
chr18	14850257	14850257	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon41:c.A3439G:p.I1147V,	.	.	477	1043	2	0	0	2	0.000957854	.	.	3454177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.165	B	0.011	B	.	.	0.652	N	1.445	L	2.34	T	-1.012	T	0.028	T	0.064	-3.484	0.001	0.113	0.032	1.501	5.478	0.018	0.00173700117256	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0	0.0009	0.0001229	19	154602	rs564413111	7.728e-05	8.004e-05	6.229e-05	9.246e-05	0.0006	6.538e-05	6.111e-05	0.0005	0.0004	3.142e-05	5.115e-05	0	0	0	0.0005	4.808e-05	3.378e-05	0.0006	3.949e-05	3.937e-05	2.575e-05	5.386e-05	0.0004	1.718e-05	1.131e-05	7.299e-05	3.032e-05	0	0	0.0002	0	0	0	0	1.476e-05	0	0.0004	0.478	0.08286	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.01	0.25309	L	2.34	0.16351	T	0.07	0.06138	N	0.049	0.02088	-1.0119	0.26322	T	0.028	0.12190	T	9	0.01800564	0.00388	T	0.001737	0.02934	T	0.018	0.03083	.	.	0.167679373172	0.16340	0.006275708283549896	0.00595	0.0344480146263	0.03621	0.912703156471	0.97720	D	0.001389	0.00857	T	-0.359972	0.04131	T	-0.754852	0.03301	T	0.0211805932494161	0.00820	T	0.346065	0.07604	T	0.036358442	0.04456	0.03477783	0.02605	0.036358442	0.04455	0.03477783	0.02604	-3.317	0.13958	T	.	.	0.225	0.45702	B	.	.	0.165735	0.05554	2.014	0.17180775745358692	0.00490	0.08149	0.14114	N	AEGBI	0.047544	0.08017	N	-1.00747084409832	0.08448	0.396142	-1.11544826201753	0.07404	0.3600527	4.90357958852467E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.113	0.13937	1.736000	0.37811	.	.	0.349000	0.19912	0.131000	0.23362	0.000000	0.08366	0.003000	0.05239	0.7135:0.2864:0.0:0.0	5.478	0.16002	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	646.98	35	chr18	14850257	.	A	G	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=737;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=8.000e-03;SOR=0.544	GT:AD:DP:GQ:PL	0/1:31,28:59:99:661,0,760	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:34,22:61:99:197,0,490	1	0	20	0
chr18	31867448	31867448	G	A	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.C2417T:p.A806V,	.	.	640	877	5	0	0	5	0.00284252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.006	B	0.009	B	0.000	D	1.000	D	0.895	L	3.04	T	-1.018	T	0.013	T	0.13	2.318	13.71	4.59	1.256	4.582	15.559	0.041	0.00587277349733	0.0043	0.00179712	0.0038	0.0011	0.0029	0	0.0008	0.0052	0.0035	0.0036	0.0035834	554	154602	rs141629139	0.0039	0.0041	0.0039	0.0040	0.0044	0.0038	0.0038	0.0041	0.0041	0.0008	0.0035	0.0112	0	0.0009	0.0044	0.0042	0.0039	0.0032	0.0031	0.0031	0.0034	0.0027	0.0047	0.0029	0.0028	0.0043	0.0041	0.0007	0	0.0031	0.0104	0	0.0013	0	0.0047	0.0038	0.0033	0.146	0.25055	T	0.077	0.42436	T	0.006	0.13644	B	0.009	0.14300	B	0.000078	0.52346	D	0.200016	0.993311	0.23734	N	1.1	0.28011	L	3.04	0.08810	T	-0.63	0.18459	N	0.142	0.26596	-1.0185	0.24204	T	0.013	0.05321	T	10	0.0060548484	0.00136	T	0.005873	0.15281	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.4775419215765477	0.47674	0.128732705604	0.14513	0.338795661926	0.16257	T	0.001541	0.03111	T	-0.584936	0.00180	T	-0.610662	0.11931	T	0.0160695073281892	0.00386	T	0.814619	0.46840	T	0.04663078	0.07837	0.06567696	0.13346	0.04663078	0.07837	0.06567696	0.13345	-6.008	0.46347	T	.	.	0.126	0.26545	B	.;.	.;.	2.442223	0.31438	18.74	0.96286442619911283	0.29298	0.94393	0.61022	D	AEFBI	0.456113	0.50811	N	-0.212320295147216	0.32627	1.842122	-0.0158250763519943	0.39000	2.305845	0.977389764593027	0.29816	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.49	4.59	0.56297	4.663000	0.61226	5.033000	0.46843	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1388:0.8612:0.0	15.559	0.75969	772	0.48957	.;.	.	.	.	.	.	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	0.02381	649.98	34	chr18	31867448	.	G	A	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.291;SOR=0.645	GT:AD:DP:GQ:PL	0/1:22,32:54:99:664,0,417	20	0	1	0
chr18	33224930	33224930	-	T	exonic	CCDC178	.	frameshift insertion	CCDC178:NM_001105528:exon17:c.1662dupA:p.L555Tfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	3.42e-05	0	0	0	0	6.129e-05	0	0	2.59e-05	4	154602	rs765706382	2.575e-05	3.078e-05	2.396e-05	2.76e-05	3.61e-05	1.854e-05	1.636e-05	2.043e-05	1.773e-05	3.61e-05	0	0	0	0	0	2.88e-05	3.721e-05	1.617e-05	5.265e-05	5.255e-05	6.433e-05	4.043e-05	0.0001	2.561e-05	1.833e-05	5.846e-05	4.242e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	268.94	26	chr18	33224930	.	G	GT	268.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=710;ExcessHet=0.0000;FS=3.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=-1.293e+00;SOR=1.589	GT:AD:DP:GQ:PL	0/1:18,12:30:99:283,0,470	20	0	1	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.066	N	1.000	N	0.485	N	1.0	T	-1.034	T	0.038	T	0.11	-2.968	0.001	1.01	0.473	0.289	0.508	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	425.43	46	chr18	37067197	.	G	A	425.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-7.394e+00;DP=2559;ExcessHet=1.1607;FS=156.282;InbreedingCoeff=-0.1350;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.76;SOR=9.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:229,43:280:56:.:.:56,0,5351	16	0	5	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:23,5,6,0:34:31:59,31,600,0,413,544,146,594,551,714	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:23,5,6,0:34:31:59,31,600,0,413,544,146,594,551,714	15	0	2	0
chr18	57706561	57706561	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374385:exon3:c.G208A:p.D70N	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	41	1460	19	2	0	23	0.00781515	.	.	22310	not_specified|Benign_recurrent_intrahepatic_cholestasis_type_1|Cholestasis,_intrahepatic,_of_pregnancy,_1|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|Progressive_familial_intrahepatic_cholestasis_type_1	MedGen:CN169374|MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960|MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.926	D	0.000	N	0.999	D	0.845	L	0.05	T	-0.749	T	0.205	T	0.14	2.866	15.55	5.07	1.534	5.036	14.789	0.225	0.0767283979416	0.0024	0.00179712	0.0032	0.0010	0.0013	0.0001	0	0.0048	0.0057	0.0024	0.003247	502	154602	rs34719006	0.0036	0.0036	0.0035	0.0036	0.0222	0.0035	0.0035	0.0191	0.0179	0.0014	0.0020	0.0095	5.039e-05	0.0004	0.0222	0.0038	0.0044	0.0022	0.0030	0.0030	0.0029	0.0031	0.0043	0.0028	0.0027	0.0039	0.0037	0.0013	0	0.0039	0.0058	0	9.438e-05	0.0306	0.0043	0.0090	0.0017	0.255	0.16848	T	0.285	0.21343	T	1.0	0.90584	D	0.926	0.66095	D	0.000018	0.62929	N	0.150519	0.999207	0.46326	A	0.935	0.23595	L	0.05	0.61923	T	-2.38	0.52451	N	0.393	0.43417	-0.7488	0.57998	T	0.205	0.56293	T	10	0.009497732	0.00214	T	0.076728	0.72601	D	0.225	0.52323	.	.	0.79086341652	0.78891	0.597476656237495	0.59678	.	.	0.542955636978	0.44864	T	0.181016	0.53254	T	-0.449202	0.01142	T	-0.417208	0.31395	T	0.0355616597197093	0.02904	T	0.89721	0.64041	D	0.093981616	0.22086	0.08575032	0.19820	0.088583745	0.20668	0.10292975	0.24683	-5.33	0.40239	T	.	.	0.105	0.19114	B	.;.	.;.	4.425896	0.68596	25.3	0.99671671621269042	0.78652	0.91551	0.53766	D	AEFGBCI	0.670385	0.63749	D	0.158388486482392	0.49210	3.123942	0.175577965598586	0.48512	3.066187	0.999998103517215	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.94	5.07	0.68106	5.179000	0.64881	4.859000	0.45451	-0.204000	0.08590	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9304:0.0:0.0696	14.789	0.69449	982	0.03397	P-type ATPase, N-terminal;P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2144.11	34	chr18	57706561	.	C	T	2144.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=829;ExcessHet=0.1072;FS=5.938;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.973e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1194,0,828	19	0	2	0
chr18	58981603	58981603	A	G	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001353538:exon5:c.A2593G:p.K865E	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.554	P	0.13	B	0.002	N	0.962	D	1.4	L	4.75	T	-0.905	T	0.006	T	0.76	1.369	10.51	5.4	2.061	4.444	15.103	0.180	0.00803380321367	0.0014	0.000599042	0.0015	0.0002	0.0008	0	0.0017	0.0021	0.0022	0.0013	0.0015071	233	154602	rs77308563	0.0018	0.0018	0.0018	0.0018	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0012	0	0	0.0011	0.0002	0.0021	0.0017	0.0014	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0014	0.0013	0.0002	0.0208	0.0019	0	0.0002	0.0008	0	0.0016	0.0038	0.0004	0.293	0.14843	T	0.5	0.55759	T	0.554	0.38213	P	0.11	0.31460	B	0.002311	0.36806	N	0.287415	0.962006	0.38266	D	1.435	0.35949	L	4.75	0.01604	T	-0.85	0.23156	N	0.453	0.50508	-0.9053	0.47412	T	0.006	0.01981	T	10	0.0068249404	0.00155	T	0.008034	0.21290	T	0.180	0.45073	.	.	0.0675242888579	0.06100	0.5257963975139096	0.52503	0.775738584094	0.65018	0.534343600273	0.43646	T	0.021658	0.21526	T	-0.328557	0.06221	T	-0.246831	0.50129	T	0.033866584942745	0.02614	T	0.913709	0.69301	D	0.1728138	0.37993	0.123609394	0.29804	0.1728138	0.37993	0.123609394	0.29804	-5.033	0.37197	T	.	.	0.151	0.33458	B	.;.;.;.;.;.	.;.;.;.;.;.	2.052406	0.26091	17.00	0.98333053798471048	0.40358	0.85503	0.44642	D	AEGBI	0.440845	0.49924	N	-0.227478213180435	0.32009	1.800756	-0.154739133631899	0.33226	1.898448	0.999999940254365	0.74766	0.67177	0.52595	0	0.491513	0.07743	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	4.935000	0.63199	7.880000	0.72453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	15.103	0.71968	832	0.38914	.;.;.;.;.;.	.	.	.	.	.	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	0.025	2135.33	33	chr18	58981603	.	A	G	2135.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.870e-01;DP=854;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.769;SOR=0.968	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2149,0,1952	19	0	1	1
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,21:81:94:0|1:65824683_C_G:94,0,1180:65824683	0	0	20	1
chr18	70006461	70006461	C	T	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon46:c.G3709A:p.A1237T	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1497	15	1	0	17	0.00564596	.	.	135641	not_provided|not_specified|RTTN-related_disorder|Microcephalic_primordial_dwarfism_due_to_RTTN_deficiency	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0018764,MedGen:C3553831,OMIM:614833,Orphanet:468631	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.001	B	0.003	B	0.096	N	1.000	D	0.895	L	0.8	T	-1.086	T	0.047	T	0.246	0.793	8.179	1.11	0.231	-0.538	4.895	0.059	0.00659585078721	0.0058	0.00299521	0.0057	0.0004	0.0028	0	0.0083	0.0086	0.0078	0.0014	0.0057244	885	154602	rs34989098	0.0062	0.0062	0.0061	0.0063	0.0070	0.0061	0.0061	0.0069	0.0068	0.0007	0.0047	0.0044	2.521e-05	0.0097	0.0043	0.0070	0.0053	0.0011	0.0061	0.0061	0.0063	0.0059	0.0092	0.0058	0.0056	0.0085	0.0082	0.0009	0	0.0092	0.0052	0.0002	0.0084	0	0.0091	0.0080	0.0015	0.641	0.04987	T	0.886	0.03170	T	0.001	0.07471	B	0.003	0.08700	B	0.095964	0.20098	N	0.491376	1	0.81001	D	1.725	0.44537	L	0.8	0.48769	T	0.05	0.06369	N	0.095	0.07535	-1.0860	0.06227	T	0.047	0.20275	T	10	0.00667727	0.00151	T	0.006596	0.17386	T	0.059	0.16972	.	.	0.0954503805726	0.09146	0.0430729865101976	0.04252	0.0678493212606	0.07595	0.267887085676	0.05867	T	0.021934	0.17000	T	-0.516657	0.00460	T	-0.505523	0.21776	T	0.00433808880377373	0.00046	T	0.692631	0.31245	T	0.033694975	0.03639	0.048189342	0.07105	0.035504002	0.04190	0.048189342	0.07105	-3.471	0.17915	T	0.11479793417717615	0.10198	0.077	0.06433	B	.;.;.	.;.;.	0.961669	0.13381	9.888	0.8686741465769553	0.16827	0.03624	0.08865	N	AEFGBI	0.038494	0.05455	N	-0.879440298585642	0.11333	0.5463388	-0.829270200645972	0.13787	0.717094	0.898267252993684	0.26022	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.1	1.11	0.19640	-0.376000	0.07522	-0.669000	0.07943	0.549000	0.26987	0.225000	0.24590	0.000000	0.08366	0.782000	0.36987	0.2547:0.4962:0.0:0.2492	4.895	0.13103	977	0.04225	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.02381	677.98	34	chr18	70006461	.	C	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=763;ExcessHet=0.0000;FS=6.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-3.080e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/1:47,30:77:99:692,0,1236	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,14,21,0:35:99:.:.:2906,1081,1256,892,0,1490,2270,1340,887,2517	1	10	5	0
chr19	549093	549093	C	T	exonic	GZMM	.	nonsynonymous SNV	GZMM:NM_001258351:exon4:c.C403T:p.R135C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.94	D	0.589	U	1.000	N	2.215	M	-2.45	D	-0.136	T	0.678	D	0.28	2.579	14.58	-5.74	-1.324	-0.664	1.956	0.345	0.327217623926	.	0.000399361	0.0003	0	0	0.0003	0	4.627e-05	0	0.0009	9.7e-05	15	154602	rs549703952	0.0001	0.0001	9.122e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.011e-05	2.491e-05	0	5.19e-05	0	0.0005	2.91e-05	0.0002	0.0017	6.582e-05	6.564e-05	2.575e-05	0.0001	0.0021	3.522e-05	2.62e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.015	0.61642	D	0.998	0.73220	D	0.94	0.67560	D	0.588851	0.11070	U	0.663319	1	0.08975	N	1.06	0.26948	L	-2.45	0.88847	D	-3.43	0.67359	D	0.283	0.32037	-0.1359	0.79264	T	0.678	0.88870	D	10	0.07312745	0.11007	T	0.327218	0.91647	D	0.345	0.66676	.	.	0.834332070228	0.83275	0.4897540887096439	0.48895	0.394897662239	0.40640	0.46452575922	0.33930	T	0.552066	0.84851	D	-0.327706	0.06287	T	-0.293944	0.45361	T	0.158856993623988	0.17787	T	0.832517	0.50110	T	0.3691063	0.58519	0.53796077	0.73299	0.3691063	0.58519	0.53796077	0.73299	-10.589	0.77357	D	.	.	0.313	0.56520	B	.;.	.;.	2.494783	0.32192	18.97	0.99411775081558751	0.63310	0.03467	0.08621	N	AEFDBHCI	0.037406	0.05139	N	-0.573420865056525	0.19755	1.036402	-0.944051513637879	0.11061	0.5612132	0.633807362706232	0.21992	0.581397	0.33459	0	0.78372	0.99691	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	-5.74	0.02197	-1.995000	0.01562	-2.028000	0.04322	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4748:0.2527:0.1576:0.115	1.956	0.03171	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	506.98	33	chr19	549093	.	C	T	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=795;ExcessHet=0.0000;FS=2.014;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.26;ReadPosRankSum=-2.359e+00;SOR=1.007	GT:AD:DP:GQ:PL	0/1:57,24:81:99:521,0,1385	20	0	1	0
chr19	1231034	1231034	A	-	exonic	CBARP	.	frameshift deletion	CBARP:NM_152769:exon9:c.1221delT:p.R408Gfs*120,	.	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	.	0.0007	0.0009	0.0014	0.0017	0	0.0005	0	0.0002	0.0005175	80	154602	rs771515759	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0009	0.0008	0.0006	0.0012	8.841e-05	0.0008	2.023e-05	0.0011	0.0007	0.0007	0.0005	0.0006	0.0006	0.0006	0.0007	0.0023	0.0005	0.0005	0.0013	0.0011	0.0005	0	0.0015	0.0003	0.0023	0	0	0.0005	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.94	33	chr19	1231033	.	TA	T	1253.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.28;ReadPosRankSum=0.989;SOR=0.641	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1268,0,1243	20	0	1	0
chr19	1360982	1360982	C	T	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.C857T:p.A286V	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.027	N	1.000	N	-0.695	N	1.92	T	-0.983	T	0.015	T	0.032	-0.604	1.304	-2.26	-0.497	-0.095	7.672	0.018	.	0.0073	0.00319489	0.0102	0	0	0	0.0455	0.0164	0	0.0018	0.0032859	508	154602	rs183898700	0.0093	0.0088	0.0097	0.0088	0.0109	0.0091	0.0091	0.0107	0.0106	0.0012	0.0031	0.0002	0	0.0082	0.0008	0.0109	0.0061	0.0002	0.0070	0.0070	0.0074	0.0066	0.0115	0.0067	0.0065	0.0108	0.0106	0.0020	0.0099	0.0057	0	0	0.0080	0	0.0115	0.0057	0.0012	0.504	0.07645	T	0.586	0.13365	T	.	.	.	.	.	.	0.027385	0.01667	N	14.924200	1	0.08975	N	.	.	.	1.92	0.23688	T	-0.42	0.14193	N	0.018	0.00252	-0.9832	0.34258	T	0.015	0.06282	T	10	0.003314197	0.00057	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	.	.	.	.	0.384165048599	0.22845	T	.	.	.	-0.762496	0.00014	T	-0.853769	0.00913	T	0.00203960481050828	0.00021	T	0.361564	0.08348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02370	B	.;.;.	.;.;.	-0.240346	0.02892	0.414	0.67059039778778273	0.08242	0.03686	0.08957	N	AEFDBHCIJ	0.039979	0.05882	N	-1.86774381386221	0.00400	0.01718104	-1.85605440571543	0.00596	0.02646938	0.999999999999958	0.74766	0.50712	0.20391	0	0.653731	0.59785	0	0.26897	0.05253	2	0.635259	0.50027	0	.	.	3.06	-2.26	0.06478	-0.056000	0.11744	-2.213000	0.04049	-1.010000	0.01767	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6254:0.0:0.3746	7.672	0.27630	952	0.10565	.;.;.	.	.	.	.	rs183898700	Likely benign	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	0.02381	850.98	34	chr19	1360982	.	C	T	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=832;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=0.363;SOR=0.556	GT:AD:DP:GQ:PL	0/1:24,35:59:99:865,0,551	20	0	1	0
chr19	1488250	1488250	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon3:c.C325T:p.R109W,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.018	B	0.002	B	0.008	N	1.000	N	2.525	M	-0.66	T	-0.661	T	0.297	T	0.335	0.578	7.122	1.89	0.331	0.727	8.794	0.170	0.0747423114188	.	.	2.614e-05	0	0	0	0	3.165e-05	0	6.222e-05	1.94e-05	3	154602	rs752525290	8.898e-06	8.893e-06	9.535e-06	8.254e-06	0.0002	4.97e-06	3.83e-06	3.81e-06	2.76e-06	0	0	0	2.52e-05	0	0.0002	8.095e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.018	0.17786	B	0.002	0.06944	B	0.008208	0.30959	N	0.142348	1	0.08975	N	2.555	0.74557	M	-0.66	0.76561	T	-5.88	0.88699	D	0.339	0.38027	-0.6613	0.62219	T	0.297	0.66849	T	10	0.3130179	0.48756	T	0.074742	0.72116	D	0.170	0.43303	0.501	0.59304	0.82733789124	0.82570	0.5366279633579213	0.53587	0.204434301611	0.22868	0.440808176994	0.30688	T	0.362584	0.72847	T	-0.0913295	0.37857	T	-0.268335	0.47987	T	0.670863151550293	0.39376	D	0.850515	0.53399	D	0.24018294	0.46918	0.230621	0.48170	0.24018294	0.46918	0.230621	0.48169	-9.853	0.73027	D	.	.	0.096	0.24566	B	.;.	.;.	2.640854	0.34361	19.61	0.99376696818673771	0.61671	0.10928	0.16290	N	AEFBI	0.503051	0.53520	D	-0.553697497494307	0.20368	1.07319	-0.609011695943629	0.19261	1.032641	0.380549598631176	0.19956	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.98	1.89	0.24700	-0.030000	0.12257	2.699000	0.34147	0.581000	0.30040	0.000000	0.06391	0.793000	0.26880	0.024000	0.12247	0.0:0.0:0.4478:0.5522	8.794	0.34027	970	0.06235	Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1547.98	46	chr19	1488250	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=936;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-2.330e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1562,0,1625	20	0	1	0
chr19	1578439	1578439	C	A	exonic	MBD3	.	nonsynonymous SNV	MBD3:NM_001281453:exon6:c.G777T:p.E259D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.003	B	0.001	D	0.966	N	0	N	-5.02	D	-0.058	T	0.727	D	0.058	2.058	12.84	2.05	1.950	-0.611	1.875	0.310	0.294272754713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	6.84e-07	0	1.381e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.000956	0.40932	D	0.245630	0.966067	0.25910	N	2.005	0.54552	M	0.84	0.98562	T	.	.	.	0.193	0.21449	-0.0578	0.81040	T	0.727	0.90655	D	10	0.07006794	0.10143	T	0.294273	0.90669	D	0.310	0.63162	0.058	0.00182	0.382940591053	0.37911	0.41470816162115703	0.41386	0.526060352726	0.50237	0.459673076868	0.33265	T	0.008939	0.36806	T	-0.0230464	0.48418	T	-0.270881	0.47732	T	0.154359057545662	0.17445	T	0.734627	0.35069	T	0.08517232	0.19746	0.059524108	0.11185	0.08517232	0.19746	0.059524108	0.11184	-3.644	0.19717	T	.	.	0.063	0.02399	B	.;.;.	.;.;.	0.390111	0.07619	4.280	0.98391161535795102	0.40957	0.30401	0.24073	N	AEFBHCI	0.226058	0.35006	N	-0.861491167935306	0.11768	0.5697588	-0.801254817140294	0.14466	0.755938	0.00471501139518959	0.10684	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.32	2.05	0.25860	-0.379000	0.07494	-0.672000	0.07929	0.444000	0.21144	0.122000	0.23210	0.003000	0.18671	0.131000	0.19607	0.3222:0.4091:0.1559:0.1128	1.875	0.03021	970	0.06235	.;.;.	.	.	.	.	.	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	0.02381	772.98	34	chr19	1578439	.	C	A	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=770;ExcessHet=0.0000;FS=0.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.583;SOR=0.658	GT:AD:DP:GQ:PL	0/1:36,33:69:99:787,0,933	20	0	1	0
chr19	2015551	2015553	GGC	-	exonic	BTBD2	.	nonframeshift deletion	BTBD2:NM_017797:exon1:c.151_153del:p.A54del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	459.95	24	chr19	2015541	.	GGGCGGCGGCGGC	GGGCGGCGGC,G	459.95	.	AC=2,2;AF=0.500,0.500;AN=4;DP=24;ExcessHet=0.0000;FS=0.000;MLEAC=8,4;MLEAF=1.00,1.00;MQ=60.00;QD=27.94;SOR=1.085	GT:AD:DP:GQ:PL	2/2:0,0,2:2:6:91,91,91,6,6,0	0	1	0	19
chr19	3546284	3546285	TG	-	exonic	MFSD12	.	frameshift deletion	MFSD12:NM_001287529:exon7:c.1137_1138del:p.M380Dfs*24	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2405.94	34	chr19	3546283	.	ATG	A	2405.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.720e-01;DP=932;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=1.16;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,63:138:99:0|1:3546283_ATG_A:2420,0,2960:3546283	20	0	1	0
chr19	3546286	3546286	G	A	exonic	MFSD12	.	nonsynonymous SNV	MFSD12:NM_001287529:exon7:c.C1136T:p.A379V	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.963	D	0.827	P	0.000	D	1.000	D	1.59	L	-2.47	D	0.590	D	0.726	D	0.556	5.179	32	4.52	2.067	9.102	16.244	0.703	0.324328716268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.019	0.61642	D	0.963	0.55692	D	0.827	0.59428	P	0.000010	0.62929	D	0.112497	0.999996	0.58761	D	1.625	0.41611	L	-2.47	0.88997	D	-2.92	0.61129	D	0.635	0.64989	0.590	0.91766	D	0.726	0.90625	D	10	0.8576658	0.84970	D	0.324329	0.91567	D	0.703	0.89330	0.673	0.81101	0.818747543652	0.81703	0.8635051419527873	0.86314	.	.	0.531340181828	0.43223	T	0.538556	0.84158	D	0.148903	0.69165	D	-0.0238882	0.68772	D	0.949154317378998	0.63051	D	0.960504	0.89535	D	0.27088684	0.50160	0.2652417	0.52354	0.27088684	0.50159	0.2652417	0.52353	-13.232	0.90295	D	.	.	0.647	0.75059	P	.;.;.;.	.;.;.;.	4.752528	0.76759	26.6	0.9993049877895831	0.99334	0.96998	0.72102	D	AEFGBCI	0.935749	0.93105	D	0.616828073106257	0.74236	6.098909	0.613066333059046	0.75889	6.390918	0.999999999720499	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.52	4.52	0.54797	9.223000	0.94355	11.614000	0.93566	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:1.0:0.0	16.244	0.82257	940	0.13648	.;Major facilitator superfamily domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2405.98	34	chr19	3546286	.	G	A	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.274e+00;DP=932;ExcessHet=0.0000;FS=1.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=1.25;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,63:138:99:0|1:3546283_ATG_A:2420,0,2960:3546283	20	0	1	0
chr19	4343827	4343829	GGC	-	exonic	MPND	.	nonframeshift deletion	MPND:NM_001159846:exon2:c.127_129del:p.G46del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328748932	9.558e-07	2.668e-05	0	2.014e-06	4.412e-05	0	0	.	.	0	0	0	4.412e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	33.98	15	chr19	4343826	.	TGGC	T	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.428e+00;DP=307;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=-3.950e-01;SOR=0.148	GT:AD:DP:GQ:PL	0/1:12,2:14:48:48,0,477	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:281,471,0:752:99:.:.:12189,0,6761,13031,8169,21199	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,316,0:589:99:0|1:4511713_T_C:12001,0,10308,12822,11258,24081:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:271,0,321:592:99:0|1:4511713_T_C:12302,13118,24331,0,11213,10247:4511713	0	0	0	8
chr19	4534052	4534052	T	C	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon2:c.A23G:p.Q8R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.275	B	0.06	B	0.763	U	1.000	N	0.695	N	2.69	T	-0.989	T	0.020	T	0.05	1.036	9.233	2.48	1.409	0.401	6.866	0.025	0.0128913954543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343489123	3.422e-06	3.42e-06	1.362e-06	5.504e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.699e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.333	0.18395	T	0.079	0.24468	B	0.015	0.17295	B	0.762640	0.09611	U	0.877390	1	0.08975	N	2.125	0.59049	M	2.69	0.59314	T	-1.11	0.28703	N	0.097	0.07811	-0.9891	0.32828	T	0.020	0.08546	T	10	0.06951794	0.09985	T	0.012891	0.31852	T	0.025	0.05312	0.12	0.02719	0.181679512989	0.17746	0.14897467900613784	0.14819	0.215293184439	0.24062	0.438211083412	0.30333	T	0.00653	0.05961	T	-0.246608	0.14517	T	-0.592012	0.13493	T	0.0567479127302515	0.06647	T	0.278772	0.04827	T	0.12024295	0.28297	0.108136974	0.26045	0.12024295	0.28296	0.108136974	0.26044	-3.462	0.15904	T	.	.	0.068	0.17317	B	.;.;.	.;.;.	0.658651	0.10271	7.005	0.94022779775070897	0.24131	0.07378	0.13398	N	AEFDGBCI	0.079949	0.16156	N	-0.910554251681448	0.10594	0.5070056	-0.963693022902307	0.10607	0.5352835	0.117129439561611	0.16794	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	2.48	2.48	0.29194	0.176000	0.16596	-0.085000	0.12129	0.559000	0.28343	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.0:1.0	6.866	0.23275	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	34	chr19	4534052	.	T	C	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.995e+00;DP=869;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-2.510e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/1:83,90:173:99:2164,0,2255	20	0	1	0
chr19	4954746	4954746	G	A	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon14:c.G2093A:p.R698K	.	.	433	1049	38	2	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.022	N	0.992	N	.	.	.	.	-0.966	T	0.025	T	.	-1.595	0.014	-6.23	-1.749	1.268	9.401	0.052	.	0.0041	0.00279553	0.0049	0.0008	0.0021	0	0.0015	0.0056	0.0045	0.0106	0.0005692	88	154602	rs62621801	0.0052	0.0052	0.0048	0.0055	0.0140	0.0051	0.0050	0.0118	0.0116	0.0007	0.0028	0.0143	5.038e-05	0.0010	0.0140	0.0049	0.0064	0.0124	0.0042	0.0042	0.0043	0.0040	0.0131	0.0039	0.0038	0.0105	0.0095	0.0008	0	0.0042	0.0147	0.0002	0.0009	0.0034	0.0058	0.0076	0.0131	.	.	.	1.0	0.04603	T	0.0	0.02946	B	0.001	0.04355	B	0.021601	0.26803	N	0.389904	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9664	0.37934	T	0.025	0.10598	T	7	0.0033281147	0.00057	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.5011052632260251	0.50032	.	.	0.265116155148	0.05515	T	0.084796	0.37357	T	-0.781554	0.00011	T	-0.886029	0.00606	T	0.0148856521144319	0.00315	T	0.783522	0.42019	T	0.14534879	0.33323	0.118098706	0.28508	0.14534879	0.33323	0.118098706	0.28508	-3.702	0.19348	T	.	.	0.060	0.01011	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.138487	0.05329	1.817	0.50478674859723482	0.04391	0.14024	0.18181	N	AEFGBHI	.	.	.	-1.61723298231365	0.01181	0.05133813	-1.65181575236333	0.01366	0.06172264	0.033033839052933	0.14085	0.156188	0.03335	0	0.12628	0.03447	0	0.17184	0.04098	0	0.221052	0.04502	0	0.193795	0.30138	4.78	-6.23	0.01875	1.269000	0.32677	0.576000	0.19656	-1.899000	0.00526	0.978000	0.35038	0.380000	0.24611	0.038000	0.14061	0.2793:0.0:0.5268:0.1939	9.401	0.37594	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	0.04762	4707.11	40	chr19	4954746	.	G	A	4707.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=1160;ExcessHet=0.1072;FS=1.679;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.71;MQRankSum=-5.770e-01;QD=12.49;ReadPosRankSum=-6.230e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:92,98:190:99:2581,0,2332	19	0	2	0
chr19	7501046	7501046	G	C	exonic	TEX45	.	nonsynonymous SNV	TEX45:NM_198534:exon2:c.G224C:p.R75P,	.	.	428	1063	30	1	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.024	N	1.000	N	0.69	N	2.54	T	-1.021	T	0.013	T	0.148	0.811	8.261	-7.52	-3.106	-1.370	1.713	0.027	.	.	0.00599042	0.0142	0.0089	0.0094	0	0	0.0054	0.0370	0.0176	0.0025938	401	154602	rs187442624	0.0076	0.0073	0.0073	0.0079	0.0187	0.0075	0.0074	0.0179	0.0175	0.0009	0.0027	0.0016	3.042e-05	0.0040	0.0101	0.0077	0.0063	0.0187	0.0050	0.0050	0.0052	0.0049	0.0207	0.0047	0.0046	0.0174	0.0162	0.0011	0.0044	0.0031	0.0012	0	0.0044	0.0034	0.0076	0.0028	0.0207	0.279	0.15561	T	0.326	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.023544	0.01594	N	2.348000	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.52	0.16187	N	0.108	0.09349	-1.0208	0.23454	T	0.013	0.05081	T	10	0.003307104	0.00057	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.29969852726773616	0.29882	1.84427142006	0.92201	.	.	.	0.004008	0.03423	T	-0.644778	0.00078	T	-0.685329	0.06663	T	0.0103138857826821	0.00141	T	0.247975	0.03672	T	0.14525783	0.33305	0.12099742	0.29198	0.14525783	0.33304	0.12099742	0.29197	-2.917	0.09314	T	.	.	0.113	0.25232	B	.;.;.;.	.;.;.;.	0.049582	0.04636	1.295	0.62327499123901942	0.06934	0.03294	0.08346	N	ALL	0.043723	0.06948	N	-1.896059186129	0.00350	0.01502336	-2.02039866737076	0.00277	0.01223511	0.999999999998905	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.76	-7.52	0.01198	-0.920000	0.04121	-1.992000	0.04379	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3161:0.3614:0.1164:0.2061	1.713	0.02722	862	0.33134	.;.;.;.	.	.	.	.	.	Likely benign	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	0.02381	666.98	38	chr19	7501046	.	G	C	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.670e-01;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.107;SOR=0.576	GT:AD:DP:GQ:PL	0/1:29,27:56:99:681,0,748	20	0	1	0
chr19	7699376	7699376	C	T	splicing	FCER2	NM_001207019:exon1:c.19+1G>A	.	.	.	.	421	1098	3	0	0	3	0.00136426	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.655	7.513	-0.034	-0.006	-0.087	5.573	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs566821189	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0.0001	0	0	0	0.0010	0.0002	0.0003	1.303e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.514e-05	5.325e-05	9.05e-05	7.013e-05	4.818e-05	0	6.556e-05	0.0003	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.443209	0.01238	T	-0.579581	0.14582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.036602	0.25887	16.92	0.66386386337672854	0.08044	0.23607	0.22131	N	AEFDGBHCI	.	.	.	-0.463662871468702	0.23279	1.248966	-0.600937768417851	0.19469	1.044685	0.999999708252938	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.076284	0.02335	0	0.079188	0.02158	0	0.106984	0.23181	3.84	-0.0337	0.13227	0.012000	0.13184	4.166000	0.42242	0.587000	0.30956	0.945000	0.32849	0.970000	0.29701	0.059000	0.15899	0.0:0.446:0.4224:0.1316	5.573	0.16488	808	0.43318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1137.98	40	chr19	7699376	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=886;ExcessHet=0.0000;FS=3.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-6.250e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1152,0,1173	20	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:401,45:446:99:.:.:562,0,15811	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:235,42,114,0:401:99:.:.:3344,2314,12399,0,8443,9841,4203,12364,9920,15032	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:246,41,78:365:99:0|1:8888826_T_*:2535,1554,11760,0,8608,10095:8888826	1	0	19	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	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,18:196:99:0|1:8900000_C_T:220,0,7420:8900000	15	0	6	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	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,19:199:99:0|1:8900000_C_T:243,0,7494:8900000	8	0	13	0
chr19	8960385	8960385	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16385G:p.T5462R,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.855	P	.	.	.	.	0.895	L	1.33	T	-0.945	T	0.092	T	0.075	-0.139	3.321	-1.95	-0.309	0.092	4.466	0.056	0.00173710243747	.	0.000199681	4.971e-05	0	8.657e-05	0	0	4.497e-05	0.0011	6.056e-05	5.17e-05	8	154602	rs186476303	9.031e-05	9.029e-05	7.896e-05	0.0001	0.0001	7.757e-05	7.3e-05	8.852e-05	8.238e-05	0	8.944e-05	0	0	0	0	0.0001	0.0001	3.478e-05	9.852e-05	9.843e-05	5.14e-05	0.0001	0.0008	6.004e-05	4.878e-05	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0001	0	0.0008	0.003	0.68238	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-0.94	0.25118	N	0.078	0.05287	-0.9453	0.41764	T	0.092	0.35092	T	8	0.073467046	0.11102	T	0.001737	0.02934	T	0.056	0.15993	.	.	0.245660935333	0.24156	0.1033340142650841	0.10263	.	.	0.204365819693	0.00594	T	.	.	.	-0.471476	0.00832	T	-0.66671	0.07820	T	0.131658002734184	0.15535	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	-6.757	0.52238	T	.	.	0.153	0.33846	B	.	.	0.094220	0.04970	1.535	0.33305687591221217	0.01977	0.06411	0.12415	N	AEFDGBHCI	0.021800	0.01015	N	-0.596042695570995	0.19065	0.9948507	-0.87187643193095	0.12763	0.6583715	6.18253576726731E-4	0.07460	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.32	-1.95	0.07135	0.055000	0.14112	.	.	-1.025000	0.01715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2161:0.3551:0.4288	4.466	0.11111	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2785.98	123	chr19	8960385	.	G	C	2785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=3072;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-6.920e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:112,104:216:99:2800,0,3004	20	0	1	0
chr19	8964694	8964694	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A12076G:p.T4026A,	.	.	434	1055	31	2	0	35	0.016317	.	.	2815426	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.015	B	0.021	B	.	.	.	.	0.345	N	4.35	T	-0.911	T	0.003	T	0.024	-0.725	0.892	-2.75	-1.188	-0.649	1.136	0.075	.	0.0022	0.00279553	0.0034	0.0004	0.0019	0	0.0002	0.0033	0.0122	0.0088	0.0032276	499	154602	rs148585362	0.0027	0.0027	0.0025	0.0029	0.0161	0.0026	0.0026	0.0135	0.0125	0.0007	0.0029	0.0145	2.519e-05	5.618e-05	0.0161	0.0021	0.0039	0.0088	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0050	0.0003	0	0.0042	0.0118	0.0002	9.42e-05	0.0238	0.0027	0.0047	0.0077	0.011	0.55530	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	-0.79	0.21860	N	0.013	0.00142	-0.9108	0.46756	T	0.003	0.00994	T	8	0.0037052333	0.00068	T	.	.	.	0.075	0.21907	.	.	0.0138822411134	0.00435	0.0659111179427683	0.06530	.	.	0.206093788147	0.00656	T	.	.	.	-0.757965	0.00016	T	-0.854718	0.00902	T	0.00588009084003625	0.00065	T	0.238576	0.03390	T	.	.	.	.	.	.	.	.	-4.171	0.26330	T	.	.	0.082	0.08899	B	.	.	-0.230600	0.02939	0.431	0.22670875842891453	0.00923	0.01979	0.05984	N	AEFBI	0.020420	0.00804	N	-2.07862487576974	0.00143	0.00610154	-2.1391363994693	0.00153	0.006729086	5.16135264836763E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-2.75	0.05564	-1.122000	0.03378	.	.	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1782:0.1271:0.3633:0.3314	1.136	0.01647	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3083.98	42	chr19	8964694	.	T	C	3083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-01;DP=2021;ExcessHet=0.0000;FS=1.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=0.571;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,84:178:99:0|1:8964670_T_A:3098,0,3404:8964670	20	0	1	0
chr19	9339210	9339210	G	T	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon4:c.G243T:p.E81D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.007	B	0.032	B	.	.	0.999	D	1.11	L	4.38	T	-0.881	T	0.005	T	0.245	0.602	7.246	-3.06	-0.578	-0.276	0.258	0.049	0.000825833119805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	0.05992	T	0.447	0.15355	T	0.007	0.14184	B	0.032	0.22131	B	.	.	.	.	0.998814	0.45492	D	2.06	0.56677	M	4.38	0.02255	T	0.47	0.03090	N	0.274	0.31253	-0.8807	0.49706	T	0.005	0.01688	T	9	0.089755684	0.15574	T	8.26E-4	0.00670	T	0.049	0.13647	0.438	0.49157	0.124217242631	0.12060	0.09459419970087661	0.09391	0.0397123237534	0.04241	0.276877969503	0.07061	T	0.003059	0.02464	T	-0.257664	0.13174	T	-0.607893	0.12156	T	0.0898033582063524	0.11195	T	0.0521948	0.00373	T	0.09879271	0.23306	0.0478329	0.06976	0.09879271	0.23305	0.0478329	0.06976	-5.69	0.44119	T	.	.	0.530	0.65942	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.011511	0.13907	10.46	0.95815392421499945	0.27896	0.31279	0.24297	N	AEFBI	0.056197	0.10370	N	-0.887457025375872	0.11140	0.5360065	-0.916944251959165	0.11694	0.5973612	0.00149890584717259	0.08586	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.42	-3.06	0.05053	-0.710000	0.05127	.	.	0.504000	0.22967	0.516000	0.27080	0.000000	0.08366	0.998000	0.85391	0.2354:0.1651:0.2654:0.3341	0.258	0.00199	970	0.06235	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1506.98	34	chr19	9339210	.	G	T	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.027;DP=842;ExcessHet=0.0000;FS=0.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=0.060;SOR=0.613	GT:AD:DP:GQ:PL	0/1:95,64:159:99:1521,0,2386	20	0	1	0
chr19	9758010	9758010	T	A	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.A680T:p.H227L	.	.	395	1120	7	0	0	7	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.99	D	.	.	1.000	N	3.945	H	-2.18	D	0.082	D	0.778	D	0.799	4.404	23.3	2.01	1.197	3.621	8.021	0.547	0.0115847110778	0.0063	0.00259585	0.0045	0.0013	0.0023	0.0002	0.0003	0.0070	0.0011	0.0018	0.0046959	726	154602	rs79195449	0.0072	0.0072	0.0073	0.0070	0.0094	0.0071	0.0070	0.0085	0.0085	0.0015	0.0019	0.0003	0	0.0007	0.0094	0.0087	0.0065	0.0024	0.0048	0.0048	0.0050	0.0046	0.0084	0.0045	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0	0	0.0004	0.0136	0.0084	0.0095	0.0033	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	4.03	0.96931	H	-2.18	0.86722	D	-10.87	0.99235	D	0.569	0.59223	0.082	0.83846	D	0.778	0.92446	D	8	0.011049181	0.00243	T	0.011585	0.29347	T	0.547	0.81193	.	.	0.526486031964	0.52295	0.12134552205757543	0.12061	0.0750471914227	0.08422	0.590041160583	0.51499	T	0.286232	0.65902	T	-0.0204679	0.48787	T	0.20295	0.83288	D	0.127009606606211	0.15103	T	0.609039	0.23055	T	0.6991818	0.78012	0.5696994	0.75085	0.6991818	0.78013	0.5696994	0.75086	-11.551	0.82595	D	.	.	0.871	0.80947	P	.	.	2.823332	0.37201	20.4	0.96672777143995958	0.30668	0.00358	0.01837	N	AEFBHCI	0.177665	0.30491	N	0.354605625575247	0.58984	4.07415	0.0960950803817417	0.44351	2.718609	0.488696173875219	0.20844	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	2.01	0.25568	6.422000	0.73266	.	.	0.545000	0.25583	1.000000	0.71638	0.000000	0.08366	0.988000	0.63387	0.0:0.0:0.0:1.0	8.021	0.29573	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1614.98	68	chr19	9758010	.	T	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=871;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-7.770e-01;SOR=0.950	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1629,0,1413	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:119,0,13:132:99:147,505,5346,0,4841,4801	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,74,0:159:99:0|1:12430718_C_A:2830,0,3281,3086,3503,6589:12430718	5	4	10	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-0.65	N	3.07	T	-0.977	T	0.006	T	0.041	-1.840	0.009	-5.15	-2.304	0.133	7.232	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	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	0.04762	2731.11	40	chr19	12464013	.	C	T	2731.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=1163;ExcessHet=0.1072;FS=5.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-2.330e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1118,0,1370	19	0	2	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,12,0,0,0,0:27:99:.:.:405,451,1007,0,557,520,451,1007,557,1007,451,1007,557,1007,1007,451,1007,557,1007,1007,1007,451,1007,557,1007,1007,1007,1007	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,12,0,0,0,0:27:99:.:.:405,451,1007,0,557,520,451,1007,557,1007,451,1007,557,1007,1007,451,1007,557,1007,1007,1007,451,1007,557,1007,1007,1007,1007	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,12,0,0,0,0:27:99:.:.:405,451,1007,0,557,520,451,1007,557,1007,451,1007,557,1007,1007,451,1007,557,1007,1007,1007,451,1007,557,1007,1007,1007,1007	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,12,0,0,0,0:27:99:.:.:405,451,1007,0,557,520,451,1007,557,1007,451,1007,557,1007,1007,451,1007,557,1007,1007,1007,451,1007,557,1007,1007,1007,1007	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,12,0,0,0,0:27:99:.:.:405,451,1007,0,557,520,451,1007,557,1007,451,1007,557,1007,1007,451,1007,557,1007,1007,1007,451,1007,557,1007,1007,1007,1007	2	3	6	0
chr19	14463960	14463960	G	A	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon11:c.G1628A:p.R543Q	.	.	.	.	.	.	.	.	.	.	.	2680425	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.048	B	0.007	B	0.001	U	1.000	N	1.7	L	1.58	T	-1.057	T	0.064	T	0.186	-0.576	1.410	3.9	2.015	1.268	11.243	0.055	0.0389527203335	8e-05	.	0.0001	0	0	0.0013	0	4.574e-05	0	6.066e-05	9.7e-05	15	154602	rs369267115	6.158e-05	6.156e-05	5.174e-05	7.152e-05	0.0010	5.095e-05	4.716e-05	0.0007	0.0006	2.987e-05	0	0	0.0010	0	0	1.979e-05	0.0001	0.0003	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	2.941e-05	0.0005	0.0002	0.655	0.05061	T	0.632	0.19721	T	0.028	0.22112	B	0.003	0.12992	B	0.001342	0.39310	U	0.110120	1	0.08975	N	1.32	0.33002	L	1.58	0.29085	T	-0.67	0.20145	N	0.528	0.56058	-1.0570	0.12517	T	0.064	0.26562	T	10	0.031177163	0.01249	T	0.038953	0.58529	D	0.055	0.15663	.	.	0.369524611565	0.36568	0.3040582164422681	0.30318	0.380575872818	0.39422	0.451461344957	0.32144	T	0.114036	0.43154	T	-0.519364	0.00444	T	-0.576582	0.14852	T	0.0285269116620749	0.01765	T	0.847215	0.76702	T	0.04391394	0.06928	0.031956866	0.01860	0.04391394	0.06927	0.031956866	0.01859	-3.768	0.20327	T	.	.	0.071	0.30502	B	.;.;.	.;.;.	3.278699	0.44915	22.0	0.73372743588629585	0.10304	0.36746	0.25604	N	AEFBI	0.094082	0.19027	N	-0.538478614492639	0.20847	1.102024	-0.518412332052753	0.21654	1.172389	0.00440239775659703	0.10539	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.9	3.9	0.44240	1.379000	0.33946	.	.	0.614000	0.49286	0.031000	0.20493	1.000000	0.68203	0.033000	0.13494	0.0:0.0:1.0:0.0	11.243	0.48209	964	0.07719	.;.;.	.	.	.	.	.	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	0.02381	2364.98	39	chr19	14463960	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.620;SOR=0.728	GT:AD:DP:GQ:PL	0/1:105,92:197:99:2379,0,2533	20	0	1	0
chr19	15022921	15022921	C	G	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon7:c.C1302G:p.D434E,	.	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.001	B	0.004	B	0.063	N	1.000	N	1.245	L	4.35	T	-0.908	T	0.000	T	0.066	-0.297	2.581	-7.57	-1.315	-0.910	1.219	0.029	.	0.0004	0.0165735	0.0096	0.0016	0.0007	0.1236	0	8.728e-05	0.0044	0.0017	0.0053039	820	154602	rs17855585	0.0027	0.0027	0.0028	0.0026	0.0871	0.0026	0.0026	0.0846	0.0837	0.0005	0.0003	0	0.0871	1.892e-05	0.0005	5.409e-05	0.0052	0.0010	0.0032	0.0033	0.0028	0.0037	0.0801	0.0030	0.0029	0.0737	0.0712	0.0006	0	0.0013	0	0.0801	0	0	0.0001	0.0047	0.0033	0.894	0.02459	T	0.603	0.07868	T	0.001	0.07471	B	0.004	0.10090	B	0.063106	0.02163	N	1.973610	1	0.08975	N	0.35	0.11930	N	4.35	0.02319	T	0.11	0.05706	N	0.029	0.00666	-0.9085	0.47037	T	0.000	0.00152	T	10	0.002439648	0.00036	T	.	.	.	0.029	0.06676	0.091	0.01065	0.350524144436	0.34660	0.04719447810161773	0.04662	0.357060352235	0.37439	0.262520998716	0.05195	T	1.81E-4	0.00031	T	-0.725478	0.00025	T	-0.737398	0.04001	T	0.0101774585272166	0.00137	T	0.361964	0.08365	T	0.034538046	0.03894	0.044133186	0.05648	0.034538046	0.03894	0.044133186	0.05648	-2.595	0.06466	T	.	.	0.113	0.22354	B	.	.	-0.723711	0.01267	0.066	0.22436313089931387	0.00902	0.00317	0.01669	N	AEFDBI	0.018184	0.00532	N	-1.4220052291061	0.02446	0.1080261	-1.53341526980204	0.02092	0.0957062	0.993406500635499	0.33202	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.12	-7.57	0.01176	-0.872000	0.04327	.	.	-0.237000	0.07570	0.004000	0.16614	0.000000	0.08366	0.335000	0.25317	0.2191:0.3254:0.2682:0.1874	1.219	0.01803	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	0.02381	2599.98	38	chr19	15022921	.	C	G	2599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-7.080e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:118,109:227:99:2614,0,2790	20	0	1	0
chr19	15879401	15879401	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon12:c.G1342A:p.E448K,	.	.	.	.	.	.	.	.	.	.	.	2344034	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.028	B	0.849	U	1.000	N	2.505	M	-0.49	T	-0.682	T	0.308	T	0.131	1.116	9.550	0.748	0.534	1.269	5.510	0.150	0.0125686926118	.	.	0.0002	0	8.637e-05	0	0	8.994e-05	0.0011	0.0010	3.84e-05	1	26028	rs764508037	0.0001	0.0005	0.0001	0.0001	0.0006	8.857e-05	8.342e-05	0.0005	0.0004	2.988e-05	0	0	2.52e-05	5.617e-05	0	7.562e-05	0.0001	0.0006	0.0001	0.0006	0.0001	8.069e-05	0.0004	7.096e-05	5.752e-05	0.0001	8.894e-05	4.814e-05	0	0	0	0	0	0	0.0002	0	0.0004	0.029	0.45756	D	0.034	0.53072	D	0.001	0.07471	B	0.028	0.21332	B	0.848965	0.08977	U	0.885835	1	0.08975	N	2.79	0.81396	M	-0.49	0.70365	T	-2.41	0.52938	N	0.23	0.31253	-0.6816	0.61298	T	0.308	0.67840	T	10	0.07914406	0.12699	T	0.012569	0.31260	T	0.150	0.39571	.	.	0.634365452782	0.63136	0.7605531224126808	0.76003	0.257202866929	0.28292	0.512010157108	0.40504	T	0.117107	0.43695	T	-0.131836	0.31199	T	-0.42715	0.30259	T	0.102110080420971	0.12588	T	0.566043	0.20156	T	0.31540284	0.54250	0.2150091	0.46073	0.31540284	0.54250	0.2150091	0.46072	-8.014	0.61165	D	.	.	0.073	0.04806	B	.;.	.;.	2.111630	0.26872	17.27	0.98948814732808876	0.49093	0.04983	0.10754	N	AEFDBI	0.077030	0.15509	N	-0.663371656343464	0.17071	0.8753734	-0.768403273427653	0.15271	0.8023088	1.23938273346686E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.05	0.748	0.17525	0.921000	0.28338	.	.	0.501000	0.22741	0.002000	0.15269	0.000000	0.08366	0.053000	0.15439	0.0:0.6568:0.2118:0.1313	5.510	0.16167	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	37.98	60	chr19	15879401	.	C	T	37.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-1.003e+01;QD=0.25;ReadPosRankSum=-6.830e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:138,13:151:52:52,0,3909	20	0	1	0
chr19	16750057	16750057	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C797T:p.A266V	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.189	B	0.113	B	0.396	N	1.000	N	-0.11	N	-1.41	T	-0.894	T	0.232	T	0.091	-0.797	0.685	0.037	-0.247	-0.055	5.024	0.140	.	0.0002	0.00279553	0.0019	0	0.0007	0	0	0.0006	0.0022	0.0110	0.0016623	257	154602	rs200735264	0.0010	0.0010	0.0007	0.0013	0.0104	0.0009	0.0009	0.0099	0.0096	8.961e-05	0.0006	0.0041	0	0	0.0036	0.0003	0.0013	0.0104	0.0009	0.0009	0.0005	0.0012	0.0104	0.0007	0.0007	0.0081	0.0073	4.81e-05	0	0.0027	0.0046	0	0	0	0.0003	0.0014	0.0104	0.289	0.16793	T	0.062	0.46406	T	0.157	0.28234	B	0.069	0.28749	B	0.396274	0.04507	N	1.428110	1	0.08975	N	0	0.06538	N	-1.41	0.80560	T	-0.29	0.11728	N	0.047	0.03956	-0.8941	0.48567	T	0.232	0.59782	T	10	0.005074203	0.00110	T	.	.	.	0.140	0.37593	.	.	0.0716867268079	0.06686	0.18970174225344194	0.18888	0.142973379505	0.16129	0.207778096199	0.00721	T	0.007067	0.06489	T	-0.516934	0.00458	T	-0.507498	0.21572	T	0.0128055767576513	0.00218	T	0.432757	0.11777	T	0.018611051	0.00383	0.031628143	0.01780	0.018611051	0.00383	0.031628143	0.01780	-4.872	0.35419	T	.	.	0.073	0.04681	B	.;.;.;.	.;.;.;.	-0.197591	0.03103	0.491	0.67345335733443468	0.08327	0.01930	0.05886	N	AEFDBI	0.028339	0.02477	N	-1.10982298745324	0.06468	0.297813	-1.12986282513968	0.07135	0.3459121	1.32552750386162E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	0.037	0.13512	0.333000	0.19512	-0.949000	0.06820	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5571:0.1715:0.2713:0.0	5.024	0.13716	906	0.23090	.;NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6077.68	41	chr19	16750057	.	C	T	6077.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.724e+00;DP=1249;ExcessHet=0.3300;FS=0.532;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.080e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,91:160:99:0|1:16750057_C_T:2306,0,2499:16750057	18	0	3	0
chr19	17283908	17283908	C	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_152363:exon5:c.C1144A:p.P382T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.913	P	0.69	P	0.437	U	1.000	N	1.67	L	.	.	-1.036	T	0.099	T	0.183	0.738	7.917	1.48	0.427	0.015	4.369	0.047	0.0324827210611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05031	T	0.354	0.17268	T	.	.	.	.	.	.	0.437313	0.12671	U	0.520533	1	0.20447	N	.	.	.	-0.64	0.72125	T	-4.05	0.74504	D	0.048	0.01999	-1.0363	0.18450	T	0.099	0.36907	T	9	0.10754028	0.19981	T	0.032483	0.54300	D	.	.	.	.	0.312608672186	0.30878	0.20893442406903606	0.20809	0.315621089703	0.33839	0.27325540781	0.06570	T	.	.	.	-0.145844	0.28963	T	-0.447271	0.27997	T	0.468741059303284	0.31485	T	0.613939	0.23413	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19598	B	.	.	0.779402	0.11495	8.096	0.53650612982435553	0.04981	0.03478	0.08638	N	AEFGBI	0.054636	0.09951	N	-0.475854835320989	0.22873	1.22443	-0.649399951851527	0.18232	0.9730503	0.936390550547592	0.27253	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.03	1.48	0.21900	-0.099000	0.10976	-0.182000	0.11122	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5989:0.1843:0.2167	4.369	0.10673	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2140.98	85	chr19	17283908	.	C	A	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=2250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.491;SOR=0.679	GT:AD:DP:GQ:PL	0/1:99,86:185:99:2155,0,2654	20	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,0,22:63:99:.:.:655,730,2260,0,1442,1364	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,22,22:45:99:.:.:1485,804,1067,673,0,1252	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,22,4,0:37:99:.:.:774,0,1009,725,278,1338,903,784,1306,1709	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,26,11,0:37:99:.:.:2291,409,229,1079,0,1263,1923,422,1236,1961	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,26,0:37:99:.:.:2062,180,0,1694,193,1732	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,61,0:61:99:.:.:3057,210,0,2835,238,2917	0	10	3	0
chr19	17517831	17517831	G	A	exonic	PGLS	.	nonsynonymous SNV	PGLS:NM_012088:exon4:c.G620A:p.G207D,	.	.	430	1090	2	0	0	2	0.00091659	.	.	2439109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.197	B	0.201	B	0.000	D	1.000	D	1.295	L	1.04	T	-1.039	T	0.119	T	0.586	3.179	16.64	5.95	2.819	7.460	17.871	0.149	0.00920641112113	.	0.000199681	0.0002	0	0.0002	0	0	1.501e-05	0	0.0010	0.0001358	21	154602	rs533662223	9.577e-05	9.577e-05	5.581e-05	0.0001	0.0012	8.242e-05	7.783e-05	0.0010	0.0010	0	8.944e-05	0	0	0	0	2.518e-05	1.656e-05	0.0012	3.94e-05	3.937e-05	3.854e-05	4.03e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.996e-05	0	0	6.548e-05	0	0.0002	0	0	1.47e-05	0	0.0006	0.029	0.45756	D	0.009	0.66756	D	0.197	0.29559	B	0.201	0.36881	B	0.000000	0.84330	D	0.093282	1	0.81001	D	1.625	0.41611	L	1.04	0.40218	T	-3.39	0.66896	D	0.549	0.57518	-1.0392	0.17556	T	0.119	0.41799	T	10	0.08671293	0.14765	T	0.009206	0.24201	T	0.149	0.39377	0.375	0.38830	0.606545613963	0.60339	.	.	0.416281362188	0.42269	0.531475365162	0.43243	T	0.225072	0.58969	T	-0.304532	0.08238	T	-0.266564	0.48166	T	0.152674678489608	0.17315	T	0.945705	0.79334	D	0.5220857	0.68379	0.5546706	0.74244	0.5220857	0.68380	0.5546706	0.74245	-8.713	0.65830	D	.	.	0.339	0.59617	B	.;.	.;.	3.663615	0.52058	23.2	0.99417208167053417	0.63597	0.94997	0.63064	D	AEFGBCI	0.930710	0.91842	D	0.200682028923202	0.51232	3.30616	0.346872861758329	0.58320	4.001788	0.999999999738548	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.775000	0.84243	11.738000	0.95134	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	17.871	0.88726	946	0.12043	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1979.98	70	chr19	17517831	.	G	A	1979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.847e+00;DP=1326;ExcessHet=0.0000;FS=0.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-4.290e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:91,89:180:99:1994,0,2207	20	0	1	0
chr19	17572539	17572539	C	T	exonic	COLGALT1	.	nonsynonymous SNV	COLGALT1:NM_024656:exon6:c.C886T:p.R296C,	.	.	432	1088	2	0	0	2	0.000918274	.	.	1902836	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.886	P	0.000	D	1.000	D	2.08	M	2.17	T	-0.954	T	0.108	T	0.8	2.757	15.18	2.95	1.202	0.799	13.377	0.237	0.0521924486921	.	.	8.239e-05	0	8.639e-05	0	0	1.499e-05	0.0011	0.0004	7.12e-05	11	154602	rs536730145	8.414e-05	8.414e-05	6.67e-05	0.0001	0.0008	7.203e-05	6.75e-05	0.0007	0.0006	0	8.944e-05	3.826e-05	0	0	0.0002	3.687e-05	4.967e-05	0.0008	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	0.003	0.68238	D	0.003	0.76473	D	0.999	0.77913	D	0.886	0.62898	P	0.000001	0.84330	D	0.055451	0.999999	0.58761	D	2.77	0.80896	M	2.17	0.19020	T	-4.72	0.79998	D	0.64	0.65245	-0.9543	0.40221	T	0.108	0.39246	T	10	0.6460713	0.69333	D	0.052192	0.64972	D	0.237	0.54074	0.484	0.56621	0.478222008075	0.47454	0.6577253451455024	0.65709	0.956684452452	0.72844	0.567701339722	0.48353	T	0.264757	0.63657	T	-0.208028	0.19657	T	-0.169002	0.57534	T	0.857902824878693	0.50862	D	0.935006	0.75597	D	0.53435355	0.69078	0.25674185	0.51379	0.53435355	0.69079	0.25674185	0.51379	-12.852	0.88744	D	0.4364331420483342	0.52269	0.519	0.65430	A	.	.	3.886640	0.56525	23.7	0.99896720656365123	0.96971	0.92561	0.56001	D	AEFGBCI	0.632376	0.61301	D	0.249309998235418	0.53604	3.528616	0.131236073140784	0.46155	2.866193	0.012015283456391	0.12267	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.741806	0.99463	0	.	.	5.35	2.95	0.33285	0.567000	0.23311	0.839000	0.22025	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.011000	0.09372	0.2953:0.7047:0.0:0.0	13.377	0.60187	952	0.10565	.	.	.	.	.	.	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	0.02381	1758.98	37	chr19	17572539	.	C	T	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.730e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.720e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:85,75:160:99:1773,0,2198	20	0	1	0
chr19	17581410	17581410	C	T	exonic	COLGALT1	.	nonsynonymous SNV	COLGALT1:NM_024656:exon12:c.C1835T:p.S612F,	.	.	.	.	.	.	.	.	.	.	.	2769952	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.971	D	0.000	D	1.000	D	2.19	M	-1.36	T	0.391	D	0.640	D	0.522	3.853	19.57	4.78	2.194	3.135	15.284	0.402	0.18106454264	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1340240194	2.056e-06	4.104e-06	1.364e-06	2.756e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.58613	D	0.997	0.70673	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.615	0.76484	M	-1.36	0.80125	T	-2.35	0.51968	N	0.412	0.45237	0.391	0.88957	D	0.640	0.87426	D	10	0.43555665	0.57769	T	0.181065	0.85531	D	0.402	0.71558	0.234	0.16305	0.911445288569	0.91055	0.6455047501393146	0.64485	0.955501152494	0.72796	0.732830286026	0.71920	T	0.253354	0.62387	T	0.106671	0.65005	D	-0.0845511	0.64570	T	0.977590560913086	0.71919	D	0.932007	0.74652	D	0.34728068	0.56855	0.26150948	0.51929	0.34728068	0.56855	0.26150948	0.51928	-5.554	0.42370	T	.	.	0.549	0.66726	A	.	.	4.551511	0.71641	25.7	0.99812540370724034	0.89620	0.97157	0.73025	D	AEFDBI	0.430654	0.49327	N	0.551415210024324	0.70168	5.462121	0.49871697866394	0.67906	5.147041	0.999632080986526	0.41205	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	5.291000	0.65468	5.828000	0.50139	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	15.284	0.73511	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1017.98	39	chr19	17581410	.	C	T	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.053;SOR=0.540	GT:AD:DP:GQ:PL	0/1:35,35:70:99:1032,0,1081	20	0	1	0
chr19	18396360	18396360	T	C	exonic	LRRC25	.	nonsynonymous SNV	LRRC25:NM_145256:exon1:c.A604G:p.N202D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.018	N	1.000	N	-1.59	N	1.55	T	-0.990	T	0.016	T	0.013	-0.996	0.267	-8.12	-2.126	-1.640	8.565	0.028	0.00421638018001	.	.	8.426e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs778458323	6.843e-06	6.84e-06	6.808e-06	6.877e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.018255	0.01483	N	2.383580	1	0.08975	N	-1.1	0.00987	N	1.55	0.29866	T	0.37	0.03639	N	0.024	0.01421	-0.9902	0.32551	T	0.016	0.06664	T	10	0.016747475	0.00354	T	0.004216	0.10153	T	0.028	0.06331	0.198	0.11110	0.102598925029	0.09809	0.08111827850611708	0.08046	0.520469550833	0.49844	0.382133305073	0.22559	T	0.004099	0.03512	T	-0.497031	0.00594	T	-0.854873	0.00900	T	0.0150332712256845	0.00324	T	0.216378	0.02701	T	0.04077884	0.05886	0.03889459	0.03859	0.04077884	0.05886	0.03889459	0.03859	-2.626	0.06703	T	.	.	0.071	0.04041	B	.;.	.;.	-0.676327	0.01377	0.079	0.33640679349860347	0.02015	0.00137	0.00841	N	AEFBI	0.036560	0.04893	N	-2.2027053446066	0.00076	0.003237756	-2.20999949209272	0.00106	0.004673366	0.999999764110783	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.06	-8.12	0.00949	-1.503000	0.02381	-1.078000	0.06398	-1.161000	0.01412	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2362:0.1181:0.6458	8.565	0.32697	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	340.98	34	chr19	18396360	.	T	C	340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=715;ExcessHet=0.0000;FS=2.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=0.702;SOR=1.294	GT:AD:DP:GQ:PL	0/1:27,14:41:99:355,0,799	20	0	1	0
chr19	19892100	19892100	A	C	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.A625C:p.K209Q	.	.	428	1087	5	2	0	9	0.00412277	.	.	2397650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.935	P	0.545	P	.	.	1.000	N	1.84	L	.	.	-1.033	T	0.090	T	0.08	0.768	8.062	0.876	0.251	-4.536	2.921	0.024	0.00567467081579	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs187512338	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	5.974e-05	8.946e-05	0	0	0	0.0035	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.424e-05	0.0002	0.0014	7.085e-05	5.742e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0.0102	7.35e-05	0.0005	0.0014	.	.	.	0.048	0.52060	D	0.935	0.52277	P	0.545	0.49043	P	.	.	.	.	1	0.08975	N	1.655	0.42436	L	0.38	0.57575	T	.	.	.	0.075	0.05799	-1.0332	0.19427	T	0.090	0.34683	T	7	0.015888035	0.00334	T	0.005675	0.14681	T	0.024	0.04979	.	.	0.173771789658	0.16945	0.007938133792926001	0.00758	0.543497612951	0.51426	0.320516884327	0.13500	T	0.188357	0.54224	T	-0.546321	0.00307	T	-0.592907	0.13415	T	0.0741419968192751	0.09221	T	0.030397	0.00190	T	0.27340212	0.50407	0.13585807	0.32517	0.27340212	0.50407	0.13585807	0.32517	-7.203	0.55503	T	.	.	0.194	0.41480	B	.;.	.;.	2.239256	0.28593	17.85	0.88696181030245036	0.18182	0.00013	0.00170	N	AEFBHCI	0.021877	0.01026	N	-0.656725849229931	0.17265	0.8869186	-0.907151032703557	0.11925	0.6104944	0.00190466313171431	0.08993	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	0.876	0.876	0.18274	-0.635000	0.05568	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.6686:0.0:0.3314:0.0	2.921	0.05416	940	0.13648	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1497.98	33	chr19	19892100	.	A	C	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-8.530e-01;SOR=0.672	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1512,0,2329	20	0	1	0
chr19	32709348	32709348	C	T	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon2:c.C878T:p.P293L,	.	.	430	1089	3	0	0	3	0.00137552	.	.	2237135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.942	D	0.000	U	1.000	D	2.54	M	0.11	T	-0.366	T	0.337	T	0.74	2.451	14.15	3.83	2.405	2.596	8.433	0.346	0.115582720635	0.0002	0.000199681	0.0002	0	0.0004	0.0007	0	0.0002	0.0011	0	0.0001876	29	154602	rs184454636	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0007	0.0006	5.974e-05	0.0004	0.0001	0.0010	0	0.0012	0.0002	0.0003	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0008	0.0001	0	0.0001	0	0.0019	0	0	0.0002	0	0	0.0	0.91255	D	0.026	0.55759	D	1.0	0.90584	D	0.942	0.67772	D	0.000321	0.45700	U	0.146910	1	0.81001	D	3.29	0.90338	M	0.11	0.61208	T	-9.4	0.98380	D	0.86	0.85660	-0.3665	0.73068	T	0.337	0.70322	T	10	0.7284224	0.74131	D	0.115583	0.79481	D	0.346	0.66769	.	.	0.641797326188	0.63884	0.8233935750908207	0.82296	0.438887797697	0.43915	0.453682005405	0.32447	T	0.563307	0.85419	D	-0.12069	0.33010	T	0.00830846	0.70873	D	0.417154254766561	0.29585	T	0.724128	0.33779	T	0.66981477	0.76423	0.4213289	0.66068	0.66981477	0.76424	0.4213289	0.66068	-10.705	0.78015	D	.	.	0.496	0.64412	A	.	.	4.460152	0.69407	25.4	0.99797865468806346	0.88283	0.70541	0.34633	D	AEFGBHI	0.072711	0.14519	N	0.496496704367046	0.66883	5.008424	0.382753423714393	0.60501	4.23846	0.166648352402941	0.17674	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.88	3.83	0.43287	2.940000	0.48695	2.727000	0.34358	0.549000	0.26987	0.988000	0.36536	0.993000	0.31925	0.332000	0.25247	0.0:0.8942:0.0:0.1058	8.433	0.31932	849	0.35778	.	.	.	.	.	.	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	0.02381	1198.98	34	chr19	32709348	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=810;ExcessHet=0.0000;FS=2.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=0.164;SOR=0.929	GT:AD:DP:GQ:PL	0/1:75,51:126:99:1213,0,1751	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:164,44:208:99:468,0,4663	12	0	9	0
chr19	34377847	34377847	A	G	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon5:c.A515G:p.N172S	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.024	B	0.04	B	0.000	N	0.998	D	1.57	L	-3.29	D	0.012	D	0.680	D	0.091	2.404	14.00	3.3	0.347	4.466	8.378	0.326	0.0413937599299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.199	0.34959	T	0.0	0.02946	B	0.003	0.08700	B	0.000012	0.62929	N	0.174294	0.997669	0.44080	D	2.155	0.60227	M	-3.29	0.93740	D	-3.16	0.64246	D	0.116	0.10483	0.012	0.82502	D	0.680	0.88951	D	10	0.46471924	0.59500	T	0.041394	0.59904	D	0.326	0.64826	0.52	0.62217	0.891725395736	0.89066	0.6649876103380037	0.66435	0.38830470761	0.40095	0.435250401497	0.29927	T	0.929655	0.98801	D	-0.0167342	0.49317	T	-0.261814	0.48642	T	0.603600442409515	0.36543	D	0.909409	0.69895	D	0.26182705	0.49242	0.19967677	0.43860	0.26182705	0.49242	0.19967677	0.43859	-4.064	0.54114	T	0.18549861443443827	0.24106	0.082	0.21011	B	.;.;.;.;.	.;.;.;.;.	1.388626	0.18007	13.50	0.98043173160710906	0.37805	0.96632	0.70119	D	AEFDGBI	0.865902	0.78516	D	-0.36483198758358	0.26730	1.461112	-0.244745962078664	0.29952	1.68236	0.733977090341996	0.23098	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	3.3	0.36912	4.456000	0.59820	3.834000	0.40009	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.7983:0.1323:0.0694:0.0	8.378	0.31614	933	0.16026	Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1194.98	33	chr19	34377847	.	A	G	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=846;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.33;SOR=0.836	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1209,0,1457	20	0	1	0
chr19	36515163	36515163	G	T	exonic	ZNF260	.	nonsynonymous SNV	ZNF260:NM_001375596:exon2:c.C76A:p.P26T	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	0.996	N	2.39	M	1.59	T	-0.959	T	0.075	T	0.108	0.598	7.226	-0.88	-0.106	1.504	3.964	0.063	0.0161693882789	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs185835535	4.517e-05	4.515e-05	4.358e-05	4.679e-05	0.0007	3.643e-05	3.323e-05	0.0002	0.0001	0	2.24e-05	0	0	0	0.0007	3.779e-05	0.0001	0.0001	3.944e-05	3.941e-05	3.855e-05	4.037e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.013	0.53900	D	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.995903	0.23169	N	2.33	0.66821	M	1.59	0.28836	T	-4.5	0.78135	D	0.065	0.03841	-0.9590	0.39368	T	0.075	0.30210	T	9	0.07742572	0.12217	T	0.016169	0.37293	T	0.063	0.18251	.	.	0.248417906384	0.24464	0.07242795703977072	0.07179	0.114773647323	0.12943	0.226711019874	0.01733	T	0.230659	0.59678	T	-0.402499	0.02230	T	-0.612339	0.11795	T	0.100067644944883	0.12365	T	0.113689	0.00866	T	0.11288698	0.26666	0.095318064	0.22600	0.11288698	0.26665	0.095318064	0.22599	-6.56	0.50747	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	1.449740	0.18706	13.88	0.91621967688475381	0.20907	0.24267	0.22340	N	AEFGBCI	0.114723	0.22585	N	-0.801143529766088	0.13281	0.6531519	-0.920897669575921	0.11602	0.5920386	0.0140047679361678	0.12540	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	-0.88	0.10073	1.582000	0.36177	.	.	0.662000	0.56354	0.900000	0.31427	0.000000	0.08366	0.031000	0.13245	0.0828:0.1442:0.4942:0.2788	3.964	0.08918	509	0.75304	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1442.98	33	chr19	36515163	.	G	T	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=839;ExcessHet=0.0000;FS=7.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=-1.310e+00;SOR=1.217	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1457,0,970	20	0	1	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,32:120:99:0|1:37887095_C_T:551,0,2992:37887095	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,32:120:99:0|1:37887095_C_T:551,0,2992:37887095	1	0	15	5
chr19	37890148	37890148	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G3523A:p.V1175I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	0.083	N	1.000	N	-0.205	N	3.0	T	-0.991	T	0.013	T	0.03	-0.170	3.172	-1.51	-0.354	-0.154	3.191	0.005	0.0128737786154	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971265866	4.501e-05	4.309e-05	5.357e-05	3.622e-05	5.19e-05	3.595e-05	3.268e-05	4.098e-05	3.683e-05	3.165e-05	2.8e-05	0	2.798e-05	0	0	5.19e-05	5.165e-05	1.262e-05	3.944e-05	3.94e-05	6.424e-05	1.346e-05	6.555e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	6.555e-05	0	0	0	0	5.88e-05	0	0	0.336	0.12878	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.083308	0.02377	N	2.318770	1	0.08975	N	.	.	.	3.0	0.09167	T	-0.05	0.07736	N	0.023	0.00407	-0.9911	0.32321	T	0.013	0.05225	T	10	0.046782583	0.03913	T	0.012874	0.31816	T	0.005	0.00259	0.218	0.13932	0.0138822411134	0.00435	0.02113141827636059	0.02066	.	.	0.292468428612	0.09282	T	.	.	.	-0.576538	0.00202	T	-0.862333	0.00818	T	0.0218455288227424	0.00891	T	0.374563	0.08910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04975	B	.;.	.;.	-0.694095	0.01335	0.074	0.29793818814110068	0.01598	0.00114	0.00722	N	AEFBI	0.018512	0.00567	N	-1.50127601145156	0.01842	0.08076155	-1.54351729749168	0.02021	0.09235877	0.12766852125586	0.17024	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.57	-1.51	0.08207	0.036000	0.13706	.	.	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2093:0.4051:0.0:0.3857	3.191	0.06223	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1835.98	37	chr19	37890148	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.186;SOR=0.758	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1850,0,1810	20	0	1	0
chr19	38608126	38608126	G	A	exonic	MAP4K1	.	nonsynonymous SNV	MAP4K1:NM_001042600:exon14:c.C1051T:p.P351S	.	.	428	1090	2	1	1	5	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.06	B	0.014	B	0.311	N	1.000	N	0.805	L	3.03	T	-1.043	T	0.088	T	0.093	0.948	8.867	0.56	0.431	0.816	5.856	0.015	.	0.0006	0.0119808	0.0046	0.0001	0.0005	0.0243	0	0.0004	0.0053	0.0280	0.0043402	671	154602	rs34591617	0.0021	0.0022	0.0015	0.0028	0.0245	0.0021	0.0021	0.0235	0.0231	9.729e-05	0.0006	0.0026	0.0181	3.958e-05	0.0024	0.0002	0.0037	0.0245	0.0022	0.0022	0.0015	0.0029	0.0314	0.0020	0.0019	0.0273	0.0258	0.0001	0	0.0006	0.0017	0.0266	0	0	0.0003	0.0033	0.0314	0.408	0.10212	T	0.183	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.311304	0.14429	N	0.627285	0.999999	0.08975	N	2.275	0.64647	M	-0.65	0.72237	T	-0.3	0.11913	N	0.189	0.26717	-1.0434	0.16294	T	0.088	0.33885	T	10	0.0031814575	0.00053	T	.	.	.	0.015	0.02232	.	.	0.654180182034	0.65129	0.30782206049764166	0.30695	0.210683858488	0.23564	0.338318169117	0.16186	T	0.124747	0.44998	T	-0.493896	0.00619	T	-0.461274	0.26460	T	0.004524192700593	0.00048	T	.	.	.	0.062201332	0.12966	0.040151756	0.04273	0.062201332	0.12966	0.040151756	0.04272	-3.66	0.19230	T	.	.	0.084	0.09627	B	.;.;.	.;.;.	1.325273	0.17300	13.08	0.89424247568730864	0.18785	0.25054	0.22583	N	AEFDBI	0.041503	0.06318	N	-0.721291328021777	0.15424	0.777187	-0.688999931785291	0.17235	0.9155275	0.0317678580050323	0.14019	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	3.94	0.56	0.16465	0.842000	0.27280	0.450000	0.18513	0.672000	0.70159	0.971000	0.34370	0.980000	0.30356	0.116000	0.19000	0.3445:0.0:0.6555:0.0	5.856	0.17966	625	0.65529	.;.;.	.	.	.	.	.	Likely benign	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	0.02381	1188.98	35	chr19	38608126	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.359;SOR=0.674	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1203,0,1609	20	0	1	0
chr19	38736233	38736233	-	GGCGGGCGCTGAGGGGCG	exonic	CAPN12	.	nonframeshift insertion	CAPN12:NM_144691:exon12:c.1459_1460insCGCCCCTCAGCGCCCGCC:p.R486_R487insPPLSAR,	.	.	423	1094	3	0	2	5	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0	0	0	.	0	0.0096	0.0069	3.84e-05	1	26028	rs766614584	0.0005	0.0006	0.0004	0.0007	0.0068	0.0005	0.0005	0.0063	0.0061	0.0001	0	0.0005	3.221e-05	0	0.0021	0.0001	0.0006	0.0068	0.0005	0.0005	0.0004	0.0007	0.0120	0.0004	0.0004	0.0095	0.0086	2.435e-05	0	6.591e-05	0.0006	0	0	0	0.0003	0	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	438.94	33	chr19	38736233	.	C	CGGCGGGCGCTGAGGGGCG	438.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-2.826e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,14:36:99:453,0,880	20	0	1	0
chr19	39031098	39031098	T	A	exonic	FBXO27	.	nonsynonymous SNV	FBXO27:NM_178820:exon4:c.A503T:p.D168V,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.905	P	0.013	N	1.000	D	3.06	M	0.5	T	-0.601	T	0.305	T	0.847	3.570	18.19	1.8	0.194	2.398	4.175	0.352	0.0371714129417	.	0.000199681	0.0002	0	0	0	0	0.0003	0.0011	0.0003	0.0001811	28	154602	rs147557604	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0002	0	4.472e-05	0.0029	0	0	0.0007	4.676e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.721e-05	7.312e-05	3.037e-05	2.408e-05	0	0	0.0040	0	0	0.0034	7.353e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.983	0.60381	D	0.905	0.64260	P	0.012833	0.29040	N	0.219510	0.99973	0.48635	D	3.255	0.89877	M	0.5	0.55608	T	-7.7	0.95634	D	0.765	0.78072	-0.6014	0.64759	T	0.305	0.67584	T	10	0.14223915	0.27019	T	0.037171	0.57449	D	0.352	0.67326	.	.	0.76541106555	0.76326	0.7835971445815124	0.78310	1.59402822515	0.88583	0.460890412331	0.33433	T	0.348545	0.71652	T	0.0283046	0.55497	T	0.103205	0.77119	D	0.365199003200005	0.27611	T	.	.	.	0.6203334	0.73781	0.4407204	0.67381	0.6203334	0.73782	0.4407204	0.67381	-11.799	0.83858	D	.	.	0.280	0.53363	B	.;.;.	.;.;.	4.388123	0.67704	25.1	0.99230238168660312	0.56183	0.73475	0.35940	D	AEFDGBHCI	0.167438	0.29411	N	0.373577604197245	0.59994	4.183762	0.233156085716848	0.51695	3.349982	0.999999832514799	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	3.99	1.8	0.24069	3.162000	0.50454	2.521000	0.33121	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1119:0.2073:0.6808	4.175	0.09808	587	0.69154	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1846.98	36	chr19	39031098	.	T	A	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=882;ExcessHet=0.0000;FS=1.176;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-2.107e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/1:105,76:181:99:1861,0,2742	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,39,0:39:99:1|1:40667975_C_T:1701,117,0,1701,117,1701:40667975	4	8	8	0
chr19	41088574	41088574	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.C103T:p.P35S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	0.706	N	2.88	M	3.04	T	-0.966	T	0.080	T	0.425	3.172	16.61	3.33	1.870	6.432	12.584	0.259	0.0126610822503	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs758313603	2.052e-06	2.052e-06	0	4.125e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.705871	0.30060	N	4.26	0.98092	H	3.04	0.08810	T	-7.15	0.94096	D	0.553	0.57860	-0.9658	0.38053	T	0.080	0.31556	T	10	0.8185618	0.81076	D	0.012661	0.31427	T	0.259	0.57090	0.739	0.87147	0.354396617058	0.35051	0.6415366403297469	0.64088	0.514435909998	0.49391	0.499216914177	0.38719	T	0.301063	0.67353	T	-0.10241	0.36026	T	-0.369395	0.36960	T	0.963943541049957	0.66809	D	0.770723	0.40088	T	0.77332854	0.82247	0.5548636	0.74255	0.77332854	0.82249	0.5548636	0.74256	-8.179	0.62283	D	.	.	0.269	0.50297	B	.	.	4.261532	0.64772	24.7	0.99874823296726667	0.95160	0.98168	0.80190	D	AEFDGBI	0.529047	0.55032	D	0.531677587277803	0.68975	5.291629	0.364867867924015	0.59410	4.118382	0.99026862754185	0.32094	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.33	3.33	0.37245	7.004000	0.76068	7.311000	0.58126	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	12.584	0.55756	730	0.54327	.	.	.	.	.	.	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	0.02381	3757.98	38	chr19	41088574	.	C	T	3757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=889;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-9.040e-01;QD=20.65;ReadPosRankSum=0.480;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,96:182:99:0|1:41088574_C_T:3772,0,3299:41088574	20	0	1	0
chr19	41088575	41088575	C	T	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.C104T:p.P35L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	U	0.996	D	3.34	M	3.02	T	-0.904	T	0.091	T	0.485	3.209	16.75	3.33	1.870	6.432	12.584	0.264	0.0176822178552	.	.	3.295e-05	0	0.0002	0	0	2.997e-05	0	0	2.59e-05	4	154602	.	3.284e-05	3.283e-05	3.54e-05	3.025e-05	0.0007	2.543e-05	2.249e-05	0.0002	0.0001	2.988e-05	4.472e-05	0	5.038e-05	7.488e-05	0.0007	2.968e-05	3.312e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	U	0.000000	0.995912	0.42920	D	3.635	0.94052	H	3.02	0.08986	T	-9.01	0.98126	D	0.55	0.57604	-0.9044	0.47515	T	0.091	0.34874	T	10	0.7064959	0.72772	D	0.017682	0.39474	T	0.264	0.57741	.	.	0.310458034454	0.30648	0.6481452082873094	0.64750	0.336113408329	0.35611	0.557137668133	0.46863	T	0.301063	0.67353	T	-0.197468	0.21171	T	-0.345579	0.39710	T	0.998104453086853	0.93241	D	0.884712	0.60854	D	0.8212808	0.85307	0.7145133	0.83152	0.8212808	0.85308	0.7145133	0.83153	-7.4	0.56905	T	.	.	0.255	0.48938	B	.	.	4.506292	0.70528	25.5	0.99756592056128424	0.84694	0.98158	0.80102	D	AEFDGBI	0.529047	0.55032	D	0.570702621199001	0.71350	5.637717	0.383609156597624	0.60554	4.244247	0.99026862754185	0.32094	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.33	3.33	0.37245	4.273000	0.58711	5.638000	0.49139	0.571000	0.28931	0.999000	0.42656	1.000000	0.68203	0.073000	0.16832	0.0:1.0:0.0:0.0	12.584	0.55756	730	0.54327	.	.	.	.	.	.	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	0.02381	3757.98	38	chr19	41088575	.	C	T	3757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=889;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-9.040e-01;QD=20.65;ReadPosRankSum=0.605;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,96:182:99:0|1:41088574_C_T:3772,0,3299:41088574	20	0	1	0
chr19	41762184	41762184	G	T	exonic	CEACAM6	.	nonsynonymous SNV	CEACAM6:NM_002483:exon4:c.G919T:p.G307C,	.	.	10	1485	27	0	0	27	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	.	.	1.000	N	3.1	M	2.42	T	-1.040	T	0.119	T	0.325	1.600	11.31	0.774	0.123	0.419	4.390	0.049	0.00180829317033	0.0007	0.000399361	0.0013	0.0004	0.0005	0.0001	0.0002	0.0017	0.0022	0.0017	0.0012419	192	154602	rs146516997	0.0019	0.0019	0.0019	0.0019	0.0033	0.0018	0.0018	0.0022	0.0021	0.0003	0.0004	3.826e-05	2.519e-05	9.36e-05	0.0033	0.0022	0.0018	0.0020	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0019	0.0018	0.0004	0.0022	0.0007	0	0	0.0002	0	0.0021	0.0019	0.0015	0.022	0.48642	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.999549	0.21009	N	.	.	.	2.42	0.15376	T	-5.71	0.87457	D	0.344	0.38541	-1.0404	0.17192	T	0.119	0.41735	T	9	0.023479104	0.00616	T	0.001808	0.03115	T	0.049	0.13647	.	.	0.432154444652	0.42834	0.5759244226900047	0.57521	0.681454949513	0.60047	0.264249384403	0.05408	T	.	.	.	-0.504361	0.00540	T	-0.493531	0.23021	T	0.0803119729783042	0.10027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.54573	B	.	.	1.740568	0.22151	15.50	0.98843005415940055	0.47152	0.05507	0.11395	N	AEFBI	0.069645	0.13794	N	-0.177224493981637	0.34085	1.941294	-0.515069635581128	0.21743	1.177718	1.30701209138358E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.87	0.774	0.17665	0.499000	0.22254	-1.703000	0.04884	0.526000	0.24426	0.074000	0.22182	0.000000	0.08366	0.011000	0.09372	0.2181:0.0:0.7819:0.0	4.390	0.10765	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2795.98	36	chr19	41762184	.	G	T	2795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e-01;DP=1046;ExcessHet=0.0000;FS=11.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-2.473e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/1:119,115:234:99:2810,0,2894	20	0	1	0
chr19	42868881	42868881	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G584A:p.R195Q	.	.	15	1459	46	2	0	50	0.0168464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.132	B	0.044	B	.	.	1.000	N	-0.345	N	2.99	T	-0.942	T	0.007	T	0.078	-0.336	2.408	-1.44	-0.781	0.482	2.353	0.013	0.000604984014835	0.0045	0.00259585	0.0053	0.0008	0.0047	0.0004	0.0017	0.0073	0.0046	0.0046	0.0019978	52	26028	rs148212160	0.0062	0.0062	0.0060	0.0063	0.0269	0.0061	0.0060	0.0230	0.0215	0.0015	0.0056	0.0290	7.566e-05	0.0017	0.0269	0.0062	0.0080	0.0045	0.0051	0.0051	0.0056	0.0045	0.0062	0.0048	0.0046	0.0057	0.0055	0.0009	0.0670	0.0058	0.0283	0.0002	0.0015	0.0204	0.0062	0.0090	0.0044	0.389	0.65419	T	0.39	0.33109	T	0.024	0.27209	B	0.023	0.23607	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.99	0.09262	T	0.04	0.08187	N	0.105	0.13198	-0.9417	0.42346	T	0.007	0.02321	T	9	0.0033926368	0.00059	T	6.05E-4	0.00274	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.086408958465541	0.08574	0.00866364585856	0.00788	.	.	.	5.36E-4	0.03393	T	-0.683374	0.00046	T	-0.75303	0.03369	T	3.38542813551612e-05	0.00000	T	0.70163	0.32905	T	0.029852921	0.02548	0.035667937	0.02861	0.029852921	0.02548	0.035667937	0.02861	-2.088	0.03533	T	.	.	0.077	0.13969	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.490925	0.01897	0.157	0.7445620437142858	0.10702	0.00188	0.01093	N	AEFI	0.024380	0.01501	N	-1.65265184355464	0.01024	0.04439887	-1.70450507736129	0.01118	0.05023568	1.53626025775916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	-1.44	0.08391	0.571000	0.23372	0.432000	0.18335	-2.143000	0.00376	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.4426:0.2838:0.0:0.2736	2.353	0.04027	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6346.11	35	chr19	42868881	.	C	T	6346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=1560;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.93;MQRankSum=0.255;QD=13.19;ReadPosRankSum=0.375;SOR=0.681	GT:AD:DP:GQ:PL	0/1:174,183:357:99:4909,0,4308	19	0	2	0
chr19	42929524	42929524	G	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.C261G:p.N87K	.	.	10	1462	47	3	0	53	0.0178032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00439297	0.0059	0.0010	0.0048	0.0024	0.0017	0.0078	0.0066	0.0060	0.0055885	864	154602	rs146569565	0.0065	0.0065	0.0063	0.0066	0.0307	0.0064	0.0063	0.0270	0.0256	0.0016	0.0057	0.0291	0.0010	0.0017	0.0307	0.0064	0.0089	0.0057	0.0053	0.0054	0.0058	0.0049	0.0065	0.0050	0.0049	0.0060	0.0058	0.0009	0.0680	0.0058	0.0289	0.0023	0.0016	0.0204	0.0065	0.0085	0.0063	.	.	.	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07535	.	.	.	.	.	.	.	0.004633993	0.00097	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.08514320760388049	0.08448	.	.	0.434188365936	0.29781	T	0.003173	0.02576	T	-0.518392	0.00450	T	-0.507023	0.21621	T	.	.	.	0.0775922	0.01553	T	0.04992332	0.08939	0.08294131	0.18968	0.04992332	0.08938	0.08294131	0.18968	-0.974	0.00971	T	.	.	0.076	0.22573	B	.;.;.	.;.;.	-0.905720	0.00916	0.034	0.24092682129794563	0.01049	0.00005	0.00104	N	AEFBI	0.014013	0.00207	N	.	.	.	.	.	.	0.00201933433724678	0.09087	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	0.167	0.14292	0.309000	0.19094	-3.405000	0.02812	-1.286000	0.01263	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6421:0.3579:0.0	5.471	0.15967	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	0.04762	6225.11	36	chr19	42929524	.	G	C	6225.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.792;DP=2945;ExcessHet=0.1072;FS=1.739;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.89;MQRankSum=-2.715e+00;QD=11.28;ReadPosRankSum=1.04;SOR=0.815	GT:AD:DP:GQ:PL	0/1:213,193:406:99:4712,0,5409	19	0	2	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L,	.	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.793	P	0.422	B	.	.	1.000	N	0.895	L	.	.	-1.071	T	0.054	T	0.131	2.156	13.17	2.69	1.342	-0.697	8.668	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	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	0.04762	9817.11	36	chr19	43613809	.	C	T	9817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.89;DP=2464;ExcessHet=0.1072;FS=4.067;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.020;SOR=0.981	GT:AD:DP:GQ:PL	0/1:199,175:374:99:4584,0,5275	19	0	2	0
chr19	44878273	44878273	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1093A:p.V365M,	.	.	409	1093	20	0	0	20	0.00906618	.	.	2808886	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.861	P	0.173	B	.	.	1.000	D	1.935	M	-0.53	T	-0.600	T	0.234	T	0.119	3.731	18.95	4.63	1.401	3.099	8.778	0.150	.	0.0025	0.00399361	0.0102	0	0.0038	0	0.0238	0.0054	0	0.0428	0.0014618	226	154602	rs201037066	0.0038	0.0036	0.0035	0.0041	0.0116	0.0037	0.0037	0.0109	0.0107	0.0006	0.0006	0.0025	5.91e-05	0.0085	0.0040	0.0033	0.0033	0.0116	0.0028	0.0028	0.0024	0.0032	0.0121	0.0026	0.0025	0.0096	0.0087	0.0007	0	0.0010	0.0020	0.0002	0.0071	0.0034	0.0035	0.0005	0.0121	0.054	0.38633	T	0.084	0.41239	T	0.861	0.47410	P	0.173	0.35463	B	.	.	.	.	1	0.81001	D	.	.	.	-0.53	0.70833	T	-1.27	0.31981	N	0.219	0.24510	-0.6000	0.64817	T	0.234	0.60124	T	9	0.008009136	0.00182	T	.	.	.	0.150	0.39571	.	.	0.737711754149	0.73536	.	.	.	.	.	.	.	.	.	.	-0.446057	0.01191	T	-0.404112	0.32908	T	0.0117879295304798	0.00182	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	-7.608	0.58367	D	.	.	0.223	0.45384	B	.	.	3.629833	0.51407	23.1	0.99887540941415998	0.96204	0.89664	0.50274	D	AEFDBI	0.388972	0.46837	N	0.301856988620212	0.56242	3.789	0.355470249689991	0.58839	4.056976	0.976040442937437	0.29689	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.66	4.63	0.57175	2.479000	0.44857	.	.	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1701:0.0:0.8299:0.0	8.778	0.33933	835	0.38313	.	.	.	.	.	.	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	0.04762	2189.11	33	chr19	44878273	.	G	A	2189.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.310;DP=879;ExcessHet=0.1072;FS=1.182;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.907;SOR=0.792	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1012,0,1016	19	0	2	0
chr19	45348069	45348069	T	C	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.T688C:p.C230R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.925	M	-0.96	T	-0.006	T	0.495	T	0.845	3.705	18.82	3.24	1.731	7.648	10.170	0.833	0.500434329193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	1.368e-06	0	2.775e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.063	0.63918	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	0.89	0.75553	T	-11.31	0.99402	D	0.932	0.95256	-0.0056	0.82140	T	0.495	0.80859	T	10	0.96734333	0.96245	D	0.500434	0.95143	D	0.833	0.94728	0.82	0.93328	0.920481439374	0.91968	0.8512148379701462	0.85083	0.0926991954694	0.10471	0.903871297836	0.96858	D	0.39317	0.75264	T	0.327322	0.84983	D	0.232399	0.84786	D	0.999892830848694	0.99577	D	0.965403	0.87236	D	0.9650428	0.97782	0.91777664	0.96241	0.9650428	0.97782	0.91777664	0.96242	-15.16	0.96446	D	.	.	0.998	0.98383	P	.;.;.;.;.	.;.;.;.;.	5.445468	0.90990	32	0.99684687878614753	0.79507	0.97421	0.74643	D	AEFDBCI	0.914246	0.87734	D	0.564639079772083	0.70979	5.581564	0.478722924969473	0.66581	4.970915	0.9999931148914	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	3.24	0.36257	7.891000	0.85843	7.751000	0.68142	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	10.170	0.42078	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	730.98	34	chr19	45348069	.	T	C	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.353e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,30:62:99:745,0,759	20	0	1	0
chr19	45681747	45681747	C	A	exonic	GIPR	.	nonsynonymous SNV	GIPR:NM_001308418:exon13:c.C1105A:p.R369S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.344	B	0.15	B	0.125	N	1.000	N	2.045	M	-0.14	T	-0.714	T	0.217	T	0.589	3.817	19.38	4.12	2.705	2.398	10.044	0.266	0.15234213547	.	.	3.606e-05	0	0	0	0	6.652e-05	0	0	3.23e-05	5	154602	rs747689249	1.784e-05	1.915e-05	2.048e-05	1.518e-05	0.0002	1.242e-05	1.055e-05	1.298e-05	1.108e-05	2.996e-05	0	0	0	0	0.0002	1.982e-05	3.332e-05	0	6.564e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.03	0.54159	D	0.156	0.28196	B	0.016	0.17743	B	0.124969	0.18860	N	0.390532	1	0.81001	D	3.165	0.88605	M	-0.14	0.65006	T	-3.11	0.63669	D	0.295	0.46742	-0.7137	0.59771	T	0.217	0.57915	T	10	0.29704246	0.47266	T	0.152342	0.83377	D	0.266	0.57999	0.525	0.62967	0.840968558921	0.83944	0.5797079042405229	0.57899	0.297358880734	0.32117	0.521650493145	0.41859	T	0.531985	0.83821	D	0.0512447	0.58502	T	-0.164167	0.57975	T	0.3696609391598	0.27784	T	0.715328	0.32778	T	0.37154022	0.58699	0.4626709	0.68804	0.37154022	0.58699	0.4626709	0.68804	-9.554	0.71195	D	.	.	0.466	0.62985	A	.;.	.;.	3.637666	0.51562	23.1	0.99439421006332096	0.64670	0.18954	0.20469	N	ALL	0.204887	0.33129	N	0.143941924781266	0.48525	3.063743	0.249378329846761	0.52616	3.435105	1.0	0.98316	0.443343	0.08805	1	0.52208	0.09955	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.2	4.12	0.47504	0.708000	0.25393	1.547000	0.27267	0.509000	0.23192	0.181000	0.24076	0.994000	0.32194	0.996000	0.76049	0.2148:0.7852:0.0:0.0	10.044	0.41348	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	34	chr19	45681747	.	C	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=849;ExcessHet=0.0000;FS=9.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-7.030e-01;SOR=1.214	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1847,0,1578	20	0	1	0
chr19	45814619	45814619	A	C	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon1:c.T558G:p.S186R,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.148	B	0.016	B	0.214	N	1.000	N	0.695	N	2.5	T	-1.013	T	0.027	T	0.071	1.458	10.82	-5.31	-1.363	-2.733	15.590	0.058	0.00609819366628	.	0.000199681	0.0002	9.872e-05	0	0	0	4.691e-05	0	0.0014	0.0001617	25	154602	rs200079375	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	2.358e-05	0	0	0	0	0.0001	6.72e-05	0.0010	9.852e-05	9.845e-05	0.0001	6.717e-05	0.0006	6.004e-05	4.878e-05	0.0002	9.003e-05	7.219e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.123	0.27544	T	0.491	0.29540	T	0.148	0.27908	B	0.016	0.17743	B	0.214119	0.03408	N	1.681860	1	0.08975	N	0.975	0.24501	L	2.5	0.18083	T	-1.19	0.30346	N	0.076	0.05287	-1.0132	0.25912	T	0.027	0.11574	T	10	0.0095002055	0.00214	T	0.006098	0.15964	T	0.058	0.16647	0.297	0.26202	0.0138822411134	0.00435	0.12767360158518928	0.12693	0.126057350165	0.14207	0.393298566341	0.24134	T	0.02534	0.18966	T	-0.664861	0.00059	T	-0.773355	0.02659	T	0.0208574015164198	0.00786	T	0.416558	0.10945	T	0.11210553	0.26487	0.16064027	0.37405	0.11210553	0.26486	0.16064027	0.37404	-4.067	0.24802	T	.	.	0.171	0.42848	B	.;.	.;.	-1.114569	0.00623	0.016	0.75452440248110697	0.11081	0.04688	0.10372	N	AEFDBCI	0.117268	0.22980	N	-1.43500890104894	0.02337	0.103084	-1.54056598896535	0.02041	0.09331669	0.99999912065203	0.74766	0.455138	0.09556	0	0.379588	0.06130	0	0.606884	0.38211	0	0.711	0.71501	0	.	.	4.76	-5.31	0.02519	-2.890000	0.00777	-2.998000	0.03154	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.0:0.719:0.0	15.590	0.76265	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	749.98	35	chr19	45814619	.	A	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=2.44;SOR=0.683	GT:AD:DP:GQ:PL	0/1:48,32:80:99:764,0,1282	20	0	1	0
chr19	45815966	45815966	A	C	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon26:c.T3572G:p.F1191C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.661	P	0.282	B	0.007	N	0.928	N	0.345	N	.	.	-1.079	T	0.049	T	0.374	2.558	14.51	3.35	0.697	3.080	6.765	0.070	0.00363700219408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.84e-07	1.364e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	0.661	0.40924	P	0.282	0.40384	B	0.007289	0.31484	N	0.201016	0.92794	0.27132	N	1.355	0.33814	L	.	.	.	-0.5	0.15782	N	0.511	0.54234	-1.0793	0.07485	T	0.049	0.20908	T	9	0.22733942	0.39611	T	0.003637	0.08371	T	0.070	0.20419	0.18	0.08751	0.043077524339	0.03247	0.16837958137873008	0.16757	0.103337010466	0.11688	0.781675338745	0.79180	T	0.062332	0.31888	T	-0.0437776	0.45385	T	-0.30066	0.44655	T	0.637669146060944	0.37938	D	0.806819	0.45619	T	0.09184844	0.21533	0.060370307	0.11487	0.09184844	0.21532	0.060370307	0.11486	-3.198	0.12456	T	.	.	0.169	0.37178	B	.	.	3.898478	0.56773	23.8	0.96063630857500337	0.28599	0.68210	0.33716	D	ALL	0.488480	0.52679	N	-0.0898170093705616	0.37838	2.207241	-0.00637963880585492	0.39427	2.337476	0.999999973911677	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.504199	0.09095	0	0.71	0.69187	0	.	.	4.4	3.35	0.37468	1.945000	0.39900	8.815000	0.78275	0.677000	0.82338	0.986000	0.36153	1.000000	0.68203	0.969000	0.54022	0.7818:0.0:0.0:0.2182	6.765	0.22747	819	0.41190	.	.	.	.	.	.	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	0.02381	1065.98	36	chr19	45815966	.	A	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=860;ExcessHet=0.0000;FS=1.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-4.560e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/1:65,42:107:99:1080,0,1610	20	0	1	0
chr19	47362499	47362499	G	T	exonic	DHX34	.	nonsynonymous SNV	DHX34:NM_014681:exon6:c.G1399T:p.D467Y,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.97	H	4.09	T	-0.894	T	0.072	T	0.975	4.857	27.7	5.6	2.637	6.343	18.362	0.482	.	0.0002	0.00119808	0.0018	0.0005	0.0006	0	0	0.0006	0.0072	0.0105	0.0011255	174	154602	rs145555932	0.0007	0.0007	0.0005	0.0009	0.0077	0.0007	0.0007	0.0072	0.0070	0.0002	0.0002	0.0011	0.0001	1.883e-05	0.0044	0.0002	0.0008	0.0077	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0052	0.0045	0.0003	0	0.0001	0.0012	0.0002	0	0	0.0003	0.0005	0.0071	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.635	0.94052	H	4.09	0.02973	T	-7.93	0.96269	D	0.919	0.92200	-0.8940	0.48577	T	0.072	0.29163	T	10	0.031396925	0.01274	T	.	.	.	0.482	0.77206	.	.	0.655384900829	0.65251	0.8647843333440839	0.86442	0.828181939262	0.67508	0.689908564091	0.65693	T	0.745668	0.92991	D	-0.0664156	0.41897	T	0.13709	0.79355	D	0.207733088600426	0.20834	T	0.944206	0.78893	D	0.9354856	0.94789	0.86860865	0.92769	0.9354856	0.94789	0.86860865	0.92770	-10.29	0.75630	D	.	.	0.427	0.61041	A	.	.	5.427909	0.90780	31	0.99541459357018669	0.70523	0.98123	0.79794	D	AEFBI	0.726663	0.67525	D	0.992526845165814	0.95510	13.68906	0.904266420705978	0.95755	13.93583	0.999999999999339	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	7.800000	0.84516	11.510000	0.92999	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	18.362	0.90321	753	0.51500	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, 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	0.04762	1480.11	39	chr19	47362499	.	G	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=782;ExcessHet=0.1072;FS=1.632;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=1.64;SOR=0.525	GT:AD:DP:GQ:PL	0/1:22,33:55:99:952,0,518	19	0	2	0
chr19	48286465	48286465	A	G	exonic	ZNF114	.	nonsynonymous SNV	ZNF114:NM_001331097:exon6:c.A841G:p.T281A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.004	B	.	.	1.000	N	0	N	3.52	T	-0.943	T	0.008	T	0.186	-0.614	1.269	-2.9	-0.828	-0.271	1.036	0.059	0.000565999908045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.468	0.12316	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.52	0.04905	T	0.5	0.02945	N	0.052	0.02366	-0.9425	0.42218	T	0.008	0.02801	T	9	0.06904417	0.09851	T	5.66E-4	0.00221	T	0.059	0.16972	0.476	0.55342	0.101711395817	0.09552	0.022784355542991477	0.02230	0.302393690479	0.32568	0.269729077816	0.06106	T	0.067412	0.33196	T	-0.289492	0.09686	T	-0.653611	0.08703	T	0.0735681130619567	0.09144	T	0.339366	0.07307	T	0.0219442	0.00826	0.023678334	0.00381	0.0219442	0.00825	0.023678334	0.00381	-3.36	0.14523	T	.	.	0.240	0.47448	B	.;.;.	.;.;.	0.062657	0.04731	1.361	0.28516384150034407	0.01468	0.06479	0.12488	N	AEFBCI	0.055917	0.10294	N	-1.29007182708259	0.03794	0.1701184	-1.38815772412125	0.03377	0.15742	0.344595412342946	0.19619	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	2.17	-2.9	0.05310	0.796000	0.26646	-4.755000	0.02001	0.483000	0.22176	0.375000	0.25965	0.000000	0.08366	0.001000	0.02609	0.2459:0.1892:0.3787:0.1863	1.036	0.01451	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2432.98	35	chr19	48286465	.	A	G	2432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=907;ExcessHet=0.0000;FS=5.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.421;SOR=0.625	GT:AD:DP:GQ:PL	0/1:117,97:214:99:2447,0,3002	20	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S,	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	439	1065	17	1	0	19	0.00884132	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.011	B	0.01	B	0.912	U	0.986	N	0	N	2.96	T	-0.967	T	0.005	T	0.185	1.269	10.14	3.24	1.839	.	6.535	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	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	0.02381	210.98	13	chr19	48443875	.	G	A	210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.900e-01;DP=458;ExcessHet=0.0000;FS=1.957;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-2.810e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:8,9:17:99:225,0,239	20	0	1	0
chr19	49118953	49118953	C	T	exonic	C19orf73	.	nonsynonymous SNV	C19orf73:NM_018111:exon1:c.G70A:p.V24M,	.	.	425	1059	36	2	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.944	P	0.646	P	.	.	1.000	N	0	N	0.5	T	-1.045	T	0.074	T	0.482	1.148	9.674	1.0	0.360	-0.389	5.599	0.122	.	0.0054	0.00359425	0.0058	0.0012	0.0037	0	0.0003	0.0051	0.0069	0.0178	0.005692	880	154602	rs2232001	0.0065	0.0064	0.0059	0.0070	0.0184	0.0063	0.0063	0.0176	0.0173	0.0011	0.0040	0.0067	0	0.0006	0.0154	0.0063	0.0060	0.0184	0.0045	0.0045	0.0045	0.0045	0.0182	0.0042	0.0041	0.0151	0.0140	0.0010	0	0.0040	0.0081	0	0.0005	0.0238	0.0065	0.0076	0.0182	.	.	.	0.0	0.92824	D	0.944	0.53183	P	0.646	0.52296	P	.	.	.	.	0.999814	0.20249	N	0	0.06538	N	0.5	0.55608	T	-3.0	0.62343	D	0.131	0.12627	-1.0447	0.15913	T	0.074	0.29802	T	9	0.004341334	0.00088	T	.	.	.	0.122	0.33800	.	.	0.239901079897	0.23603	0.008975850094908592	0.00860	0.170541867338	0.19226	.	.	.	0.070406	0.33951	T	-0.351606	0.04626	T	-0.263554	0.48469	T	0.0592529912590994	0.07050	T	0.475952	0.14261	T	0.510969	0.67735	0.38519815	0.63442	0.510969	0.67736	0.38519815	0.63442	-5.71	0.43782	T	.	.	0.203	0.42863	B	.	.	1.569430	0.20094	14.59	0.98428247229961985	0.41364	0.00689	0.02944	N	ALL	0.047722	0.08067	N	-0.397482160655906	0.25558	1.388314	-0.501278524906413	0.22119	1.199818	0.999999999999993	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.37	1.0	0.18999	-0.943000	0.04026	0.213000	0.15984	0.524000	0.24156	0.000000	0.06391	0.002000	0.18203	0.395000	0.26670	0.2299:0.5468:0.2234:0.0	5.599	0.16627	630	0.65016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.98	37	chr19	49118953	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=878;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.317;SOR=0.443	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1066,0,1180	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,20,0,38:58:99:.:.:2157,1451,1542,2212,1535,2296,795,0,816,714	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,20,0,38:58:99:.:.:2157,1451,1542,2212,1535,2296,795,0,816,714	5	4	8	0
chr19	49650933	49650933	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G544A:p.G182R,	.	.	255	1253	13	1	0	15	0.00595002	.	.	2818601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.779	P	0.17	B	0.337	N	0.717	N	0.695	N	0.32	T	-0.946	T	0.071	T	0.323	1.758	11.84	3.36	1.200	2.271	6.273	0.071	.	0.0039	0.00179712	0.0046	0.0008	0.0050	0	0.0002	0.0068	0.0142	0.0004	0.0036222	560	154602	rs151252460	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0047	0.0054	0.0053	0.0007	0.0046	0.0082	0	0.0005	0.0054	0.0055	0.0053	0.0004	0.0038	0.0038	0.0043	0.0032	0.0059	0.0035	0.0034	0.0054	0.0052	0.0009	0	0.0047	0.0095	0.0002	0.0002	0.0136	0.0059	0.0081	0.0006	0.002	0.72154	D	0.026	0.60972	D	0.779	0.44223	P	0.17	0.35299	B	0.336684	0.14028	N	0.590962	0.71728	0.29956	N	0.895	0.22405	L	0.32	0.58468	T	-1.98	0.45769	N	0.445	0.48319	-0.9460	0.41648	T	0.071	0.28904	T	10	0.0059126616	0.00132	T	.	.	.	0.071	0.20720	0.077	0.00572	0.0934897674506	0.08844	0.39125950514669	0.39040	0.757114592108	0.64062	0.814242839813	0.84143	D	0.055653	0.38075	T	-0.393496	0.02553	T	-0.336226	0.40771	T	0.0188284109681169	0.00594	T	0.592841	0.27207	T	0.05987651	0.12222	0.10397457	0.24959	0.05987651	0.12221	0.10397457	0.24959	-3.665	0.18803	T	.	.	0.828	0.78651	P	.;.	.;.	3.602036	0.50884	23.0	0.97351008131913874	0.33525	0.83855	0.42948	D	AEFDBI	0.232352	0.35544	N	0.0292853091401313	0.43191	2.616856	0.0945200372206351	0.44272	2.71224	0.956820904971459	0.28268	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	3.36	0.37579	1.238000	0.32310	5.272000	0.48155	0.648000	0.52827	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.1004:0.1904:0.7092:0.0	6.273	0.20175	783	0.47268	.;.	.	.	.	.	.	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	0.02381	1504.98	33	chr19	49650933	.	G	A	1504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=830;ExcessHet=0.0000;FS=0.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-8.030e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1519,0,1343	20	0	1	0
chr19	50286563	50286563	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon32:c.G4498A:p.A1500T	Deafness, autosomal dominant 4A, Autosomal dominant	.	2	1517	2	1	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.027	B	0.063	B	.	.	0.924	D	-1.34	N	-0.92	T	-0.877	T	0.103	T	0.078	0.696	7.714	4.56	2.543	5.854	8.738	0.261	0.0318509903202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284422786	6.854e-07	6.84e-07	0	1.378e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.568e-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	1.0	0.00964	T	1.0	0.02582	T	0.01	0.19556	B	0.013	0.27082	B	.	.	.	.	0.923984	0.36762	D	-0.89	0.01422	N	-0.92	0.75108	T	3.54	0.00084	N	0.1	0.11054	-0.8767	0.50020	T	0.103	0.37894	T	9	0.10035038	0.18270	T	0.031851	0.53829	D	0.261	0.57352	0.469	0.54214	0.29893580763	0.29502	0.14021335408609867	0.13944	0.155586269279	0.17559	0.671351790428	0.63031	T	0.101875	0.40906	T	-0.147622	0.28684	T	-0.449825	0.27716	T	0.269337017896402	0.23719	T	0.910909	0.75503	D	0.052994236	0.09966	0.22490825	0.47417	0.052994236	0.09965	0.22490825	0.47416	-2.691	0.07228	T	0.03373545710409725	0.00150	0.090	0.19800	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.733500	0.35785	19.99	0.54682007364229279	0.05186	0.77755	0.38268	D	AEFBI	0.539295	0.55633	D	-0.428454226559864	0.24476	1.321863	-0.143944129618303	0.33642	1.926554	0.0692730520664938	0.15485	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.56	4.56	0.55644	6.110000	0.71213	0.977000	0.23099	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.102:0.0:0.898:0.0	8.738	0.33702	716	0.55970	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	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	0.02381	1183.98	34	chr19	50286563	.	G	A	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=781;ExcessHet=0.0000;FS=1.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=-7.650e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1198,0,1031	20	0	1	0
chr19	50290921	50290921	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon34:c.G4877A:p.R1626Q	Deafness, autosomal dominant 4A, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	1484237	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.844	P	.	.	0.999	D	1.545	L	-1.67	D	0.217	D	0.589	D	0.374	4.587	25.0	4.42	2.447	9.300	14.887	0.610	0.118939287585	.	.	0.0001	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs766573893	1.122e-05	1.3e-05	1.25e-05	9.913e-06	3.039e-05	6.64e-06	5.37e-06	1.97e-06	1.3e-06	3.039e-05	0	0.0003	0	0	0	5.48e-06	1.692e-05	0	1.314e-05	1.313e-05	0	2.691e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.237	0.62352	T	0.994	0.67487	D	0.733	0.60373	P	.	.	.	.	0.998663	0.45243	D	1.515	0.38264	L	-1.67	0.84267	D	-3.75	0.71157	D	0.566	0.76203	0.217	0.86195	D	0.589	0.85281	D	9	0.5161361	0.62376	D	0.118939	0.79911	D	0.610	0.84719	0.508	0.60386	0.553613530234	0.55019	0.2768681489275683	0.27599	0.293193623703	0.31741	0.611020922661	0.54459	T	0.511102	0.82717	D	-0.0170603	0.49272	T	-0.0639653	0.66053	T	0.54904043674469	0.34441	D	0.994076	0.98035	D	0.14291233	0.32868	0.22451721	0.47366	0.14291233	0.32867	0.22451721	0.47365	-9.088	0.68261	D	0.2589510185490434	0.34984	0.103	0.32251	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.287960	0.88783	29.7	0.99945881936819247	0.99901	0.98128	0.79838	D	AEFDGBI	0.924596	0.90286	D	0.609828873191783	0.73797	6.02496	0.591146526752715	0.74303	6.114223	0.999999943630821	0.74766	0.718356	0.82227	0	0.563428	0.19063	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.42	4.42	0.52775	9.819000	0.98287	7.229000	0.57868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	14.887	0.70219	707	0.57054	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	33	chr19	50290921	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=750;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.024e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/1:29,30:59:99:892,0,777	20	0	1	0
chr19	51338094	51338094	C	G	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon6:c.G1844C:p.R615P,	.	.	417	1082	23	0	0	23	0.0105167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.995	D	0.000	D	0.985	D	2.545	M	2.41	T	-0.962	T	0.124	T	0.777	4.347	22.9	5.03	2.345	1.647	13.844	0.178	.	.	0.00299521	0.0083	0.0026	0.0056	0	0.0026	0.0077	0.0135	0.0121	0.0021863	338	154602	rs200590126	0.0062	0.0059	0.0059	0.0064	0.0112	0.0061	0.0060	0.0091	0.0088	0.0009	0.0039	0.0073	2.798e-05	0.0018	0.0112	0.0065	0.0061	0.0096	0.0047	0.0047	0.0050	0.0044	0.0104	0.0044	0.0043	0.0081	0.0073	0.0015	0.0165	0.0050	0.0061	0	0.0011	0.0204	0.0067	0.0076	0.0104	0.022	0.48642	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000262	0.46590	D	0.000000	0.985134	0.40241	D	2.19	0.61577	M	2.41	0.15492	T	-3.75	0.71157	D	0.481	0.51583	-0.9615	0.38897	T	0.124	0.42673	T	10	0.007164091	0.00163	T	.	.	.	0.178	0.44724	.	.	0.117506650769	0.11410	0.9052432194662495	0.90497	.	.	0.612644076347	0.54690	T	0.121906	0.44520	T	-0.32016	0.06885	T	-0.22034	0.52704	T	0.0243673031474889	0.01191	T	0.69643	0.30590	T	0.80447996	0.84193	0.6295817	0.78395	0.80447996	0.84195	0.6295817	0.78396	-9.013	0.67781	D	.	.	0.845	0.79494	P	.	.	4.354890	0.66921	25.0	0.99791497073151891	0.87750	0.89768	0.50448	D	AEFDBI	0.531603	0.55181	D	0.623946875957094	0.74690	6.176048	0.566918533478033	0.72581	5.83268	0.999999940042173	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.243000	0.32370	.	.	0.596000	0.33519	0.758000	0.29220	0.995000	0.32472	0.801000	0.37776	0.0:1.0:0.0:0.0	13.844	0.62956	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1752.98	34	chr19	51338094	.	C	G	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.903e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.027;SOR=0.722	GT:AD:DP:GQ:PL	0/1:44,69:113:99:1767,0,1113	20	0	1	0
chr19	51643372	51643372	C	T	exonic	SIGLEC14	.	nonsynonymous SNV	SIGLEC14:NM_001098612:exon7:c.G1174A:p.A392T,	.	.	487	1029	6	0	0	6	0.00290698	.	.	2195096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.001	B	0.000	U	1.000	N	0	N	1.74	T	-1.039	T	0.029	T	0.057	1.425	10.70	-2.67	-0.435	-2.302	1.297	0.028	0.00157368915475	8.6e-05	.	0.0001	0	0.0002	0	0	0.0001	0	0.0003	9.7e-05	15	154602	rs371800454	0.0001	0.0001	0.0001	0.0001	0.0065	0.0001	0.0001	0.0048	0.0042	0.0003	0.0001	0	0	0	0.0065	9.77e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.857e-05	0	0.0003	0	0	0	0.0106	0.0003	0	0.0003	0.029	0.45756	D	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.00162	U	665.863000	1	0.08975	N	0	0.06538	N	1.74	0.26301	T	-0.13	0.08971	N	0.009	0.00081	-1.0388	0.17678	T	0.029	0.12453	T	10	0.033634394	0.01546	T	0.001574	0.02497	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.07449735793064097	0.07385	0.119995550461	0.13513	0.411763131618	0.26700	T	0.003392	0.02798	T	-0.598541	0.00149	T	-0.802705	0.01835	T	0.0352791287004948	0.02857	T	0.371663	0.08799	T	0.04323881	0.06702	0.059426215	0.11150	0.04323881	0.06702	0.059426215	0.11149	-4.909	0.35836	T	.	.	0.090	0.12702	B	.	.	-0.154163	0.03334	0.584	0.73269596383038282	0.10267	0.00495	0.02340	N	AEFBI	0.046784	0.07808	N	-1.60188796165974	0.01255	0.05460343	-1.66483887558421	0.01301	0.05869475	0.260317560575781	0.18782	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.64	-2.67	0.05703	-2.197000	0.01325	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3802:0.3079:0.1868:0.1251	1.297	0.01947	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	629.71	42	chr19	51643372	.	C	T	629.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.809;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-1.038e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,29:96:99:643,0,1794	18	0	1	2
chr19	51713447	51713447	C	G	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1714C:p.G572R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.896	P	0.608	P	0.069	U	0.987	N	0.805	L	1.57	T	-1.076	T	0.065	T	0.224	0.790	8.163	2.71	1.820	0.492	11.583	0.040	0.110888291293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936793816	3.604e-06	4.104e-06	1.418e-06	5.863e-06	6.437e-05	1.06e-06	7.7e-07	1.066e-05	3.99e-06	6.437e-05	0	0	0	0	0	2.794e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.527	0.07093	T	0.187	0.28764	T	0.834	0.49324	P	0.403	0.51027	B	0.069130	0.21625	U	0.438237	0.987463	0.24514	N	0.755	0.19153	N	1.56	0.29602	T	-2.04	0.46842	N	0.281	0.31814	-1.0757	0.08205	T	0.065	0.27017	T	10	0.14891073	0.28190	T	0.110888	0.78845	D	0.040	0.10527	0.285	0.24280	0.361958692863	0.35806	0.5480903252065593	0.54735	0.0843459480316	0.09530	0.724208056927	0.70660	T	0.213008	0.57420	T	-0.243019	0.14966	T	-0.586856	0.13939	T	0.306362059020614	0.25265	T	0.846115	0.52582	T	0.09445855	0.22208	0.13385594	0.32088	0.09445855	0.22208	0.13385594	0.32087	-3.608	0.17973	T	.	.	0.19	0.40842	B	.;.;.	.;.;.	2.586808	0.33551	19.37	0.97579802945338245	0.34731	0.14208	0.18280	N	AEFBHCI	0.080018	0.16172	N	-0.389337451425088	0.25847	1.406206	-0.466639973214028	0.23078	1.256751	0.544089748654503	0.21278	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	0.528000	0.22711	.	.	0.519000	0.23678	0.001000	0.13787	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	11.583	0.50155	976	0.04745	.;.;.	.	.	.	.	.	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	0.02381	2136.98	34	chr19	51713447	.	C	G	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=1001;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-7.800e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/1:80,95:175:99:2151,0,1875	20	0	1	0
chr19	52384348	52384350	ACG	-	exonic	ZNF880	.	nonframeshift deletion	ZNF880:NM_001145434:exon4:c.768_770del:p.R257del,	.	.	311	1209	1	1	0	3	0.00123916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0074	0.0013	0.0034	0.0719	0.0002	0.0019	0.0023	0.0054	0.0008068	21	26028	rs148392772	0.0038	0.0038	0.0038	0.0038	0.0578	0.0037	0.0037	0.0558	0.0550	0.0008	0.0032	0.0007	0.0578	0.0001	0.0007	0.0020	0.0072	0.0044	0.0042	0.0043	0.0039	0.0046	0.0638	0.0040	0.0039	0.0582	0.0559	0.0012	0.0230	0.0039	0.0009	0.0638	0	0	0.0021	0.0066	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	73	chr19	52384347	.	CACG	C	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-01;DP=1321;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-7.900e-02;SOR=0.497	GT:AD:DP:GQ:PL	0/1:29,36:65:99:1425,0,1103	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:24,0,14:38:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:507,583,1595,0,1012,970:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8,0,0:32:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:262,0,985,336,1009,1345,336,1009,1345,1345:52384817	13	0	3	0
chr19	54220579	54220579	T	C	exonic	LILRB3	.	nonsynonymous SNV	LILRB3:NM_001081450:exon6:c.A1207G:p.N403D	.	.	28	1493	1	0	0	1	0.000334784	.	.	2388885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757732370	8.308e-05	0.0001	7.693e-05	8.924e-05	0.0002	7.046e-05	6.556e-05	0.0001	7.533e-05	0.0002	0.0001	0	0	0	0	8.714e-05	0.0002	1.228e-05	7.085e-05	9.238e-05	3.431e-05	0.0001	0.0002	3.441e-05	2.496e-05	8.396e-05	5.722e-05	0.0002	0	0	0	0	0	0	3.811e-05	0	0	0.559	0.06401	T	0.728	0.05203	T	.	.	.	.	.	.	0.004481	0.01026	N	3.553560	1	0.08975	N	.	.	.	5.8	0.00668	T	-0.69	0.23372	N	0.045	0.02179	-0.8972	0.48273	T	0.002	0.00707	T	10	0.035161376	0.01753	T	0.004119	0.09869	T	.	.	.	.	0.0666544352282	0.05500	0.0569966728905316	0.05640	.	.	.	.	.	.	.	.	-0.501714	0.00559	T	-0.828003	0.01298	T	0.059353334731685	0.07066	T	0.10089	0.00751	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.11027	B	.;.;.	.;.;.	-2.022694	0.00096	0.002	0.81482084239766217	0.13707	0.00137	0.00841	N	AEFDGBI	.	.	.	-1.67077434205368	0.00950	0.04117459	-1.80334002111021	0.00748	0.03336513	0.998866359128142	0.37845	0.516011	0.20929	0	0.434261	0.06401	1	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.71	-5.43	0.02426	-5.552000	0.00136	.	.	-2.514000	0.00259	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1854:0.4026:0.0:0.4119	4.874	0.13006	994	0.00715	.;Immunoglobulin|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	503.98	64	chr19	54220579	.	T	C	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.200e+00;DP=2613;ExcessHet=0.0000;FS=22.009;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=38.16;MQRankSum=4.30;QD=5.04;ReadPosRankSum=-3.146e+00;SOR=0.049	GT:AD:DP:GQ:PL	0/1:80,20:100:99:518,0,3279	20	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	600.4	37	chr19	54221344	.	C	CCGG	600.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.898e+00;DP=997;ExcessHet=1.1607;FS=102.301;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=33.45;MQRankSum=1.66;QD=2.24;ReadPosRankSum=-2.823e+00;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,5:43:96:0|1:54221256_T_C:96,0,1581:54221256	16	0	5	0
chr19	54463304	54463304	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C223T:p.R75C	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.456	P	0.035	B	0.095	U	0.939	D	2.765	M	1.23	T	-0.999	T	0.089	T	0.22	2.071	12.88	1.04	0.188	2.424	6.438	0.097	.	0.0001	0.00499201	0.0117	0.0026	0.0143	0	0	0.0025	0	0.0167	0.0015977	247	154602	rs373060387	0.0014	0.0014	0.0009	0.0019	0.0177	0.0013	0.0013	0.0169	0.0166	0	0.0010	0.0037	2.832e-05	0	0.0023	0.0003	0.0017	0.0177	0.0012	0.0011	0.0009	0.0015	0.0215	0.0010	0.0010	0.0182	0.0169	0.0004	0	0.0010	0.0043	0	0	0.0034	0.0003	0.0009	0.0215	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.095300	0.20131	U	0.483160	0.938785	0.37238	D	.	.	.	.	.	.	.	.	.	0.432	0.47115	-0.9994	0.30087	T	0.089	0.34243	T	10	0.008618861	0.00195	T	.	.	.	.	.	.	.	0.307332253619	0.30352	0.5991197196724157	0.59842	.	.	0.89994341135	0.96435	D	0.336677	0.70616	T	-0.335093	0.05735	T	-0.24114	0.50686	T	0.0886082979198304	0.11052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38480	B	.	.	4.461078	0.69433	25.4	0.99406286846987768	0.63075	0.44479	0.27327	N	ALL	0.247735	0.36826	N	-0.406836011066306	0.25230	1.368023	-0.467280422334379	0.23061	1.255693	0.999999999996529	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.31	1.04	0.19220	2.017000	0.40600	.	.	-0.406000	0.05278	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1142:0.1867:0.6991:0.0	6.438	0.21037	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	0.02381	370.98	39	chr19	54463304	.	G	A	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-02;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=1.35;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,16:40:99:385,0,709	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|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	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,145,0:403:99:0|1:54633108_T_G:5312,0,10192,6089,10628,16717:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:342,96:438:99:1433,0,9806	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:210,116,0:326:99:2707,0,6537,3337,6885,10223	6	0	14	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:188,64:252:99:998,0,5542	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:241,56:297:99:1551,0,6964	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:249,56:305:99:.:.:1582,0,10235	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,38:306:99:0|1:54752482_T_C:789,0,11017:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	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	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,20:279:60:0|1:54752511_G_A:60,0,10653:54752511	11	2	7	1
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,28:182:99:0|1:54760643_A_G:712,0,6202:54760643	8	0	13	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,31:183:99:0|1:54760643_A_G:783,0,6127:54760643	8	0	13	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,31:187:99:0|1:54760665_T_C:832,0,6401:54760665	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,31:191:99:0|1:54760665_T_C:820,0,6608:54760665	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,31:188:99:0|1:54760692_A_G:830,0,6433:54760692	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,31:185:99:0|1:54760692_A_G:838,0,6353:54760692	7	0	14	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:398,85:483:99:0|1:54773456_T_C:2371,0,16137:54773456	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:474,131:605:99:3851,0,12956	12	0	9	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	1.000	N	0.49	N	5.87	T	-0.847	T	0.002	T	0.263	-1.490	0.017	-2.21	-4.826	-0.493	2.064	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1586.96	39	chr19	54775425	.	A	G	1586.96	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.62;DP=5430;ExcessHet=0.6776;FS=5.399;InbreedingCoeff=-0.1039;MLEAC=4;MLEAF=0.095;MQ=56.79;MQRankSum=-9.969e+00;QD=0.97;ReadPosRankSum=0.585;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,31:404:99:0|1:54775425_A_G:179,0,15569:54775425	17	0	4	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.46	N	5.73	T	-0.937	T	0.001	T	0.203	-1.489	0.017	-6.75E-4	-0.370	-0.102	2.428	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-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	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.09524	1828.11	39	chr19	54775427	.	G	C	1828.11	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.30;DP=5424;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1085;MLEAC=4;MLEAF=0.095;MQ=56.78;MQRankSum=-1.042e+01;QD=1.12;ReadPosRankSum=0.317;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,31:403:99:0|1:54775425_A_G:182,0,15486:54775425	17	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P	.	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.002	B	0.0	B	.	.	1.000	N	-1.22	N	5.92	T	-0.954	T	0.001	T	0.297	-2.721	0	-0.052	-0.373	-0.293	5.420	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-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	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1833.97	39	chr19	54775428	.	T	C	1833.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.00;DP=5430;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1062;MLEAC=4;MLEAF=0.095;MQ=56.76;MQRankSum=-1.055e+01;QD=1.12;ReadPosRankSum=0.195;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,32:405:99:0|1:54775425_A_G:201,0,15485:54775425	17	0	4	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,88,3:199:99:.:.:2206,0,2915,2613,3319,8322	8	1	9	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	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;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,23:283:99:0|1:54805033_C_T:163,0,10796:54805033	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	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;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:211,28:239:99:.:.:216,0,5826	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	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	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,28:291:99:0|1:54805940_TCTC_T:384,0,10959:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	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	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,30:296:99:0|1:54805940_TCTC_T:459,0,11079:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	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	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,39:320:99:0|1:54805940_TCTC_T:792,0,11682:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	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	.	.	.	.	.	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	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,46:344:99:0|1:54805940_TCTC_T:1014,0,12305:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,70:442:99:0|1:54806034_C_A:1799,0,15323:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	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	.	.	.	.	.	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	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,70:444:99:0|1:54806034_C_A:1793,0,15407:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,63:447:99:0|1:54806034_C_A:1489,0,15934:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,62:473:99:0|1:54806034_C_A:1366,0,17071:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,61:474:99:0|1:54806034_C_A:1318,0,17158:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,62:468:99:0|1:54806034_C_A:1381,0,16861:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,59:466:99:0|1:54806034_C_A:1252,0,16912:54806034	6	0	15	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,57:421:99:0|1:54808838_C_T:1298,0,15042:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,61:434:99:0|1:54808838_C_T:1439,0,15417:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,61:434:99:0|1:54808838_C_T:1439,0,15417:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:389,55:444:99:1143,0,10421	7	0	14	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:331,99,64:494:99:.:.:1681,0,10509,250,8663,15262	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,36:280:99:0|1:54855608_TCTC_T:777,0,10137:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,35:287:99:0|1:54855608_TCTC_T:711,0,10389:54855608	6	0	15	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,57:237:99:0|1:54865770_G_A:1852,0,7387:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,56:256:99:0|1:54865770_G_A:1749,0,8229:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:202,56:258:99:.:.:1705,0,5373	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,54:258:99:0|1:54865770_G_A:1653,0,8403:54865770	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,47:237:99:0|1:54865770_G_A:1402,0,7837:54865770	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,47:233:99:0|1:54865770_G_A:1414,0,7669:54865770	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,38:205:99:0|1:54865770_G_A:1093,0,6898:54865770	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,37:196:99:0|1:54865770_G_A:1054,0,6565:54865770	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,38:192:99:0|1:54865770_G_A:1105,0,6305:54865770	7	0	13	1
chr19	54866400	54866400	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.G1085C:p.G362A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	N	2.735	M	7.23	T	-0.913	T	0.003	T	0.08	0.487	6.642	-2.11	-1.688	-1.402	0.090	0.095	0.000423417664845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.19	0.29639	T	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	2.4	0.69460	M	7.19	0.00436	T	-2.21	0.49684	N	0.163	0.26717	-0.9129	0.46492	T	0.003	0.01092	T	9	0.14445096	0.27412	T	4.23E-4	0.00085	T	0.095	0.27398	0.423	0.46693	0.101711395817	0.09552	0.03599360065536904	0.03546	0.00235242544378	0.00204	0.470549821854	0.34755	T	0.01053	0.09498	T	-0.317909	0.07070	T	-0.694431	0.06135	T	0.143444240910188	0.16567	T	.	.	.	0.07335301	0.16386	0.09508204	0.22533	0.07335301	0.16386	0.09508204	0.22533	-5.242	0.40833	T	.	.	0.087	0.11414	B	.;.	.;.	0.289414	0.06659	3.158	0.85504812990797463	0.15934	0.00109	0.00694	N	AEFBI	0.019752	0.00715	N	-0.896962110927857	0.10913	0.5239664	-1.23759613733889	0.05317	0.2530564	1.75873566903414E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-2.11	0.06787	-0.474000	0.06686	.	.	-1.225000	0.01333	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.2382:0.2095:0.2522:0.3002	0.090	0.00036	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	48.98	140	chr19	54866400	.	G	C	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.929e+00;DP=3468;ExcessHet=0.0000;FS=19.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.99;MQRankSum=-1.567e+01;QD=0.20;ReadPosRankSum=-2.120e-01;SOR=1.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,18:247:63:0|1:54866398_G_C:63,0,9384:54866398	20	0	1	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,24:295:99:0|1:54866416_T_C:192,0,11279:54866416	7	0	14	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93,0:93:99:.:.:4157,289,0,4157,289,4157	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93,0:93:99:.:.:4157,289,0,4157,289,4157	0	18	2	0
chr19	55761991	55761991	A	G	exonic	RFPL4A	.	nonsynonymous SNV	RFPL4A:NM_001145014:exon2:c.A191G:p.K64R,	.	.	452	1061	8	1	0	10	0.00469043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.004	B	.	.	1.000	N	0.69	N	1.9	T	-1.036	T	0.026	T	0.079	-0.563	1.459	-6.62	-3.558	-2.333	2.282	0.002	.	.	0.00219649	0.0043	0	0.0024	0	0.0201	0.0048	0.0103	0.0031	0.0011061	171	154602	rs202102526	0.0050	0.0049	0.0050	0.0050	0.0052	0.0049	0.0048	0.0051	0.0051	0.0006	0.0031	0.0012	8.399e-05	0.0138	0.0042	0.0052	0.0040	0.0026	0.0046	0.0047	0.0042	0.0050	0.0060	0.0043	0.0042	0.0050	0.0046	0.0011	0	0.0060	0.0020	0.0002	0.0158	0	0.0052	0.0035	0.0028	0.177	0.22224	T	0.424	0.13953	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	1.9	0.23486	T	-0.31	0.12099	N	0.065	0.03726	-1.0358	0.18606	T	0.026	0.11220	T	9	0.0036705732	0.00067	T	.	.	.	0.002	0.00045	.	.	0.0297737177859	0.01360	0.052387686679110354	0.05180	0.642582153666	0.57820	0.470957577229	0.34812	T	0.007892	0.07266	T	-0.70033	0.00036	T	-0.777936	0.02516	T	0.00230836032271605	0.00024	T	0.345165	0.07572	T	0.0277982	0.02022	0.03040241	0.01490	0.0277982	0.02022	0.03040241	0.01490	-4.089	0.25128	T	.	.	0.081	0.08417	B	.	.	0.157165	0.05482	1.950	0.67676882740748467	0.08426	0.00236	0.01316	N	AEFGI	0.020793	0.00858	N	-1.86359620726495	0.00407	0.0175176	-1.99654613396975	0.00311	0.01374765	0.777143047110315	0.23771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	-6.62	0.01646	-2.308000	0.01212	-20.000000	0.00162	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1583:0.4539:0.1847:0.2031	2.282	0.03865	834	0.38640	RDM domain, Ret finger protein-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	0.02381	928.99	37	chr19	55761991	.	A	G	928.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.379e+00;DP=748;ExcessHet=0.0000;FS=4.782;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=39.12;MQRankSum=-8.080e-01;QD=13.87;ReadPosRankSum=-1.679e+00;SOR=0.592	GT:AD:DP:GQ:PL	0/1:39,28:67:99:943,0,1426	20	0	1	0
chr19	55859212	55859212	C	G	exonic	NLRP4	.	nonsynonymous SNV	NLRP4:NM_134444:exon3:c.C1819G:p.Q607E,	.	.	431	1087	4	0	0	4	0.00183655	.	.	2375549	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.663	P	0.327	B	.	.	1.000	N	0.66	N	-2.3	D	-0.649	T	0.355	T	0.143	-0.742	0.842	-2.2	-0.264	-0.379	7.748	0.188	0.0139917753681	.	.	0.0001	0	0	0	0	4.547e-05	0	0.0006	8.41e-05	13	154602	rs773500922	5.64e-05	5.609e-05	3.413e-05	7.903e-05	0.0004	4.635e-05	4.26e-05	0.0003	0.0003	0	0	0	0	0	0	3.8e-05	6.666e-05	0.0004	1.971e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	6.547e-05	0	0	0	0	0	0	0.0004	0.701	0.04162	T	1.0	0.04274	T	0.533	0.40973	P	0.076	0.35394	B	.	.	.	.	1	0.08975	N	0.905	0.23240	L	-2.3	0.87671	D	-0.11	0.08653	N	0.06	0.03726	-0.6494	0.62740	T	0.355	0.71819	T	9	0.03908372	0.02372	T	0.013992	0.33799	T	0.188	0.46444	.	.	0.602481039113	0.59930	0.0746030368491124	0.07396	0.0505186833795	0.05550	0.222601354122	0.01465	T	0.009814	0.08911	T	-0.361267	0.04059	T	-0.41398	0.31768	T	0.0646490033269953	0.07879	T	0.493751	0.15260	T	0.047281697	0.08055	0.045798734	0.06242	0.047281697	0.08055	0.045798734	0.06242	-3.832	0.21283	T	.	.	0.086	0.13503	B	.;.	.;.	0.021296	0.04431	1.162	0.17718054448898532	0.00528	0.00803	0.03267	N	AEFDBI	0.029318	0.02744	N	-1.09646860679709	0.06708	0.3095528	-1.22442245147591	0.05519	0.2632177	3.29480536540571E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	-2.2	0.06601	-0.508000	0.06426	-2.472000	0.03712	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1744:0.3123:0.5134:0.0	7.748	0.28049	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1978.98	41	chr19	55859212	.	C	G	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.345e+00;DP=966;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.058e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1993,0,1847	20	0	1	0
chr19	56222221	56222221	G	A	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.C494T:p.S165L	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.029	B	0.003	B	.	.	1.000	N	1.555	L	3.36	T	-0.965	T	0.014	T	0.038	-0.437	1.968	-3.38	-0.961	-0.277	3.435	0.017	0.000987357988313	.	.	0.0024	0.0070	0.0007	0.0012	0.0002	0.0015	0	0.0063	0.0001164	18	154602	rs146091512	0.0011	0.0013	0.0010	0.0013	0.0071	0.0011	0.0011	0.0066	0.0065	0.0007	0.0006	0.0116	0.0019	0.0005	0.0035	0.0004	0.0018	0.0071	0.0011	0.0014	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0009	0	0.0006	0.0104	0.0010	0.0007	0.0068	0.0006	0.0019	0.0048	0.187	0.21385	T	0.23	0.25135	T	0.029	0.19866	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	3.36	0.09635	T	-1.94	0.45042	N	0.038	0.16028	-0.9645	0.38310	T	0.014	0.05608	T	9	0.007154286	0.00163	T	9.87E-4	0.01050	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.12724300887959056	0.12650	0.0585099463108	0.06489	0.263565391302	0.05322	T	0.016764	0.45325	T	-0.740293	0.00021	T	-0.833405	0.01203	T	0.000779366579697761	0.00007	T	0.671133	0.29211	T	0.047343127	0.08078	0.047482938	0.06847	0.047343127	0.08078	0.047482938	0.06847	-3.731	0.19776	T	.	.	0.168	0.41918	B	.;.;.;.;.	.;.;.;.;.	0.504653	0.08736	5.511	0.51735068036967002	0.04617	0.01589	0.05168	N	AEFBI	0.039664	0.05794	N	-1.31309409080676	0.03524	0.1575841	-1.47507454624181	0.02550	0.1174874	9.06666100771661E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	1.69	-3.38	0.04577	-1.008000	0.03774	.	.	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3887:0.0:0.4311:0.1802	3.435	0.07012	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4936.11	209	chr19	56222221	.	G	A	4936.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.06;DP=1186;ExcessHet=0.1072;FS=3.232;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.83;MQRankSum=-6.031e+00;QD=11.40;ReadPosRankSum=0.165;SOR=0.577	GT:AD:DP:GQ:PL	0/1:137,87:224:99:2251,0,3692	19	0	2	0
chr19	58068311	58068311	C	A	exonic	ZNF135	.	nonsynonymous SNV	ZNF135:NM_007134:exon4:c.C1899A:p.H633Q	.	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.009	B	.	.	1.000	N	-0.285	N	2.61	T	-1.010	T	0.016	T	0.181	-0.759	0.791	-1.32	-0.025	-3.165	0.547	0.007	.	0.0019	0.00279553	0.0036	0.0005	0.0006	0.0001	0.0207	0.0030	0.0055	0.0048	0.0032147	497	154602	rs147006683	0.0035	0.0035	0.0034	0.0036	0.0047	0.0034	0.0034	0.0040	0.0038	0.0005	0.0007	0.0039	0	0.0170	0.0047	0.0031	0.0032	0.0043	0.0034	0.0033	0.0027	0.0040	0.0032	0.0031	0.0030	0.0028	0.0027	0.0004	0	0.0021	0.0049	0	0.0196	0.0068	0.0032	0.0005	0.0031	0.098	0.31987	T	0.066	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.905	0.01334	N	2.61	0.13095	T	-0.18	0.09796	N	0.118	0.10769	-1.0097	0.27012	T	0.016	0.06711	T	9	0.0023991466	0.00036	T	.	.	.	0.020	0.03691	0.174	0.08014	0.101711395817	0.09552	0.017110014563419786	0.01666	0.0931662067262	0.10528	0.295115858316	0.09675	T	0.031418	0.22034	T	-0.649454	0.00073	T	-0.705268	0.05542	T	0.00229486043302544	0.00024	T	0.137186	0.01086	T	0.043646544	0.06838	0.06458124	0.12964	0.043646544	0.06837	0.06458124	0.12964	-5.099	0.40552	T	.	.	0.113	0.25232	B	.;.;.;.	.;.;.;.	0.335352	0.07092	3.664	0.68108573671700368	0.08558	0.03971	0.09381	N	AEFGBHCI	0.033008	0.03835	N	-1.28283656657397	0.03882	0.1742202	-1.39432901785494	0.03312	0.1542412	5.54049262928969E-5	0.04171	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	3.37	-1.32	0.08721	-3.948000	0.00369	-3.046000	0.03110	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.3476:0.1854:0.2947:0.1723	0.547	0.00612	970	0.06235	.;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	.	.	.	.	rs147006683	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2095.98	49	chr19	58068311	.	C	A	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1052;ExcessHet=0.0000;FS=2.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-1.706e+00;SOR=0.785	GT:AD:DP:GQ:PL	0/1:70,75:145:99:2110,0,1621	20	0	1	0
chr20	3801370	3801370	C	G	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon4:c.C246G:p.I82M	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	1.0	D	0.000	D	0.977	D	1.445	L	1.86	T	-1.019	T	0.094	T	0.433	2.130	13.08	2.46	1.171	0.720	6.007	0.161	0.0149374873807	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.000414	64	154602	rs554137303	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0002	8.998e-06	0.0004	0.0033	7.222e-05	7.217e-05	3.855e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.204	0.20683	T	0.2	0.30339	T	0.999	0.90584	D	0.992	0.97372	D	0.000068	0.52346	D	0.135599	0.976735	0.39302	D	2.28	0.64929	M	1.86	0.24285	T	-0.61	0.24676	N	0.275	0.43417	-1.0193	0.23943	T	0.094	0.35578	T	10	0.009481549	0.00214	T	0.014937	0.35377	T	0.161	0.41658	0.454	0.51775	0.259504319725	0.25562	0.1827236561281255	0.18191	0.885901989578	0.69990	0.608533680439	0.54108	T	0.00981	0.43418	T	-0.42049	0.01698	T	-0.377619	0.36001	T	0.113546176135258	0.13787	T	0.59994	0.47714	T	0.13199583	0.30749	0.1113303	0.26854	0.13199583	0.30749	0.1113303	0.26853	-2.711	0.07396	T	.	.	0.165	0.42067	B	.;.;.;.;.	.;.;.;.;.	3.862805	0.56034	23.7	0.9921946533876137	0.55839	0.73309	0.35861	D	AEFBCI	0.225322	0.34943	N	0.279254488823395	0.55098	3.674149	0.22626323854982	0.51310	3.314579	0.992220909467733	0.32763	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	1.308000	0.33133	2.196000	0.31247	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.77:0.0:0.23	6.007	0.18783	814	0.42100	.;.;.;.;.	.	.	.	.	.	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	0.02381	1456.98	35	chr20	3801370	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=833;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-6.740e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1471,0,1300	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:87,37:124:87:87,0,1453	5	0	16	0
chr20	13717395	13717395	C	G	exonic	ESF1	.	nonsynonymous SNV	ESF1:NM_001276380:exon13:c.G2235C:p.K745N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.84	P	0.000	D	0.976	D	2.12	M	1.7	T	-0.983	T	0.119	T	0.23	3.428	17.59	4.94	1.634	1.174	11.148	0.134	0.014192919441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.999	0.77913	D	0.84	0.60170	P	0.000002	0.62929	D	0.056671	0.976224	0.39257	D	2.74	0.80084	M	1.7	0.26885	T	-3.24	0.65171	D	0.193	0.21188	-0.9832	0.34258	T	0.119	0.41735	T	10	0.25715512	0.43128	T	0.014193	0.34139	T	0.134	0.36365	0.295	0.25881	0.447012531364	0.44320	0.09742549684446385	0.09673	0.24590413445	0.27115	0.521299421787	0.41809	T	0.169738	0.51723	T	-0.165914	0.25855	T	-0.4761	0.24863	T	0.966610431671143	0.67640	D	0.741726	0.36078	T	0.3684711	0.58472	0.31301075	0.57300	0.3684711	0.58472	0.31301075	0.57299	-6.026	0.46497	T	.	.	0.297	0.52752	B	.	.	3.298203	0.45264	22.1	0.9987671896714001	0.95328	0.86850	0.46223	D	AEFGBI	0.239513	0.36146	N	0.486533052041385	0.66301	4.932731	0.477171145438844	0.66481	4.95761	0.999919706626708	0.45857	0.706548	0.73137	0	0.658105	0.61773	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.94	0.64645	0.919000	0.28312	2.721000	0.34312	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	1.000000	0.97212	0.0:0.8579:0.0:0.1421	11.148	0.47663	666	0.61362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	919.98	40	chr20	13717395	.	C	G	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.970e-01;DP=892;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.776e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/1:38,37:75:99:934,0,995	20	0	1	0
chr20	25218599	25218599	G	A	exonic	ENTPD6	.	nonsynonymous SNV	ENTPD6:NM_001322381:exon7:c.G274A:p.V92M	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.875	P	0.219	B	0.469	N	1.000	N	1.385	L	2.6	T	-1.075	T	0.045	T	0.374	1.769	11.88	2.15	0.572	-0.072	9.575	0.028	0.00616612820908	0.0007	0.000399361	0.0007	0.0001	0.0005	0.0003	0	0.0008	0	0.0015	0.0005045	78	154602	rs141271331	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0007	0.0008	0.0008	0.0001	0.0006	0.0011	5.054e-05	5.958e-05	0.0016	0.0009	0.0008	0.0009	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0014	0.0012	0.0001	0	0.0019	0.0003	0.0002	0	0.0034	0.0008	0.0005	0.0002	0.098	0.31682	T	0.116	0.37589	T	0.217	0.48103	B	0.064	0.37734	B	0.469087	0.12300	N	0.782002	1	0.08975	N	1.44	0.36004	L	2.6	0.27032	T	-0.54	0.24026	N	0.174	0.21710	-1.0753	0.08287	T	0.045	0.19316	T	10	0.015736312	0.00330	T	0.006166	0.16141	T	0.107	0.30369	.	.	0.389126455913	0.38528	0.47633907680031556	0.47553	0.354245454243	0.37202	0.267517566681	0.05820	T	0.008074	0.08094	T	-0.449036	0.01144	T	-0.474133	0.25072	T	0.00598404997952065	0.00066	T	0.851615	0.56163	D	0.08353213	0.19294	0.09891857	0.23600	0.08353213	0.19294	0.09891857	0.23600	-4.614	0.32347	T	.	.	0.073	0.16451	B	.;.;.;.;.;.	.;.;.;.;.;.	1.806350	0.22960	15.83	0.9739959842327971	0.33765	0.08379	0.14316	N	AEFDBI	0.090066	0.18254	N	-0.407857217380608	0.25194	1.36582	-0.428093727219566	0.24177	1.322482	0.980003188777009	0.30087	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.28	2.15	0.26590	0.107000	0.15212	0.193000	0.15765	0.676000	0.76740	0.002000	0.15269	0.001000	0.17328	0.994000	0.71098	0.2446:0.0:0.7554:0.0	9.575	0.38615	662	0.61715	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	814.98	39	chr20	25218599	.	G	A	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.241;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.761;SOR=0.696	GT:AD:DP:GQ:PL	0/1:33,35:68:99:829,0,759	20	0	1	0
chr20	25248200	25248200	A	T	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon1:c.A22T:p.S8C,	.	.	1	1518	3	0	0	3	0.000987167	.	.	2300420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.149	N	0.946	D	0.69	N	-3.31	D	-0.404	T	0.540	D	0.248	3.130	16.46	-0.184	0.162	-0.251	3.285	0.244	0.551122571813	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0.0013	6.618e-05	9.06e-05	14	154602	rs201023289	0.0001	0.0001	0.0001	0.0001	0.0028	9.618e-05	9.091e-05	0.0018	0.0014	0.0007	0.0005	0.0001	0	0	0.0028	6.628e-05	0.0003	4.78e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0.0103	0.0001	0	0	0.063	0.36709	T	0.051	0.47828	T	0.0	0.02946	B	0.0	0.01387	B	0.149102	0.18027	N	0.601266	0.946238	0.37519	D	1.61	0.41143	L	-3.31	0.93835	D	-1.86	0.43524	N	0.283	0.32037	-0.4041	0.71898	T	0.540	0.83032	D	10	0.06482783	0.08655	T	0.551123	0.95862	D	0.244	0.55061	.	.	0.834765449321	0.83318	0.37172347498393815	0.37086	0.196433815475	0.22005	0.644083797932	0.59145	T	0.388059	0.74883	T	-0.224169	0.17427	T	-0.221388	0.52604	T	0.0309131424874067	0.02132	T	0.774523	0.40643	T	0.08685047	0.20202	0.08096218	0.18359	0.08685047	0.20202	0.08096218	0.18359	-6.933	0.53543	T	.	.	0.105	0.19154	B	.	.	3.364988	0.46475	22.3	0.95842600792264432	0.27968	0.28972	0.23698	N	ALL	0.114221	0.22507	N	-0.716997461434932	0.15544	0.7842785	-0.665033115379382	0.17838	0.9502537	0.999999999999999	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	3.86	-0.184	0.12628	-0.172000	0.09858	1.520000	0.27085	0.732000	0.85762	0.000000	0.06391	0.994000	0.32194	0.996000	0.76049	0.3625:0.0:0.1249:0.5126	3.285	0.06520	619	0.66147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	39	chr20	25248200	.	A	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.170e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1304,0,993	20	0	1	0
chr20	31484327	31484327	C	T	exonic	REM1	.	nonsynonymous SNV	REM1:NM_014012:exon5:c.C794T:p.A265V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.01	B	0.008	N	1.000	N	0	N	-0.2	T	-0.997	T	0.116	T	0.095	2.684	14.94	4.07	1.319	4.040	13.319	0.055	0.021840845457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.405	0.14771	T	0.026	0.19406	B	0.01	0.14941	B	0.007995	0.31082	N	0.315471	0.999864	0.19989	N	0.69	0.16971	N	-0.2	0.66113	T	-1.14	0.29323	N	0.079	0.05414	-0.9968	0.30810	T	0.116	0.41031	T	10	0.14615431	0.27713	T	0.021841	0.44662	T	0.055	0.15663	0.277	0.23004	0.789945596994	0.78799	0.31420253881138843	0.31333	0.226174836503	0.25174	0.712273061275	0.68923	T	0.016355	0.13533	T	-0.18676	0.22734	T	-0.506044	0.21723	T	0.43438708782196	0.30223	T	0.80202	0.44827	T	0.050792333	0.09231	0.10714637	0.25790	0.050792333	0.09231	0.10714637	0.25790	-7.078	0.54602	T	.	.	0.151	0.33504	B	.	.	2.509170	0.32405	19.03	0.99295644246234582	0.58433	0.89711	0.50352	D	AEFDBHCI	0.545450	0.55996	D	-0.537629520093179	0.20873	1.103618	-0.358586167644568	0.26245	1.448346	0.999930396510538	0.46732	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.02	4.07	0.46726	3.457000	0.52771	7.898000	0.73400	-0.320000	0.05874	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:0.4749:0.5251:0.0	13.319	0.59862	658	0.62094	.	.	.	.	.	.	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	0.02381	1068.98	35	chr20	31484327	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=755;ExcessHet=0.0000;FS=2.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.504;SOR=0.791	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1083,0,621	20	0	1	0
chr20	31908595	31908595	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001008409:exon5:c.G211A:p.G71R,	.	.	428	1035	57	2	0	61	0.0286251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.923	P	0.718	P	0.086	U	0.999	D	1.05	L	3.88	T	-1.123	T	0.021	T	0.457	3.401	17.48	5.0	2.480	8.246	15.387	0.140	.	0.0053	0.0081869	0.0086	0.0010	0.0063	0.0001	0.0011	0.0086	0.0159	0.0214	0.0083375	1289	154602	rs184016363	0.0079	0.0080	0.0073	0.0085	0.0354	0.0078	0.0077	0.0315	0.0299	0.0018	0.0083	0.0189	5.04e-05	0.0012	0.0354	0.0071	0.0093	0.0219	0.0078	0.0079	0.0074	0.0083	0.0211	0.0075	0.0073	0.0192	0.0185	0.0015	0.0450	0.0211	0.0181	0	0.0007	0.0238	0.0086	0.0114	0.0176	0.487	0.08067	T	0.483	0.11795	T	0.923	0.51194	P	0.718	0.54779	P	0.086298	0.20595	U	0.329934	0.998888	0.45620	D	1.65	0.42232	L	3.88	0.03570	T	-2.21	0.49684	N	0.455	0.52829	-1.1231	0.02144	T	0.021	0.08686	T	10	0.0056295395	0.00125	T	.	.	.	0.140	0.37593	0.441	0.49648	0.395143324098	0.39128	0.5826443019191341	0.58193	0.448885401441	0.44700	0.709771215916	0.68561	T	0.028686	0.20722	T	-0.455574	0.01047	T	-0.410257	0.32195	T	0.0197168962272677	0.00673	T	0.936106	0.76057	D	0.16107745	0.36092	0.1941582	0.43024	0.16107745	0.36091	0.1941582	0.43023	-13.923	0.92804	D	.	.	0.523	0.65607	A	.;.	.;.	4.893081	0.80360	27.3	0.99869920406664692	0.94726	0.98532	0.83788	D	AEFDBI	0.916601	0.88303	D	0.525809447681056	0.68622	5.242455	0.570445247355899	0.72829	5.872178	0.999999999912735	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.307000	0.89885	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	15.387	0.74430	689	0.59000	.;.	.	.	.	.	.	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	0.02381	1312.98	34	chr20	31908595	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.390e-01;DP=766;ExcessHet=0.0000;FS=3.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.21;ReadPosRankSum=0.250;SOR=0.355	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1327,0,872	20	0	1	0
chr20	33037610	33037610	G	A	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon8:c.G718A:p.G240R,	.	.	428	1093	1	0	0	1	0.000457247	.	.	3302018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.003	B	0.503	N	1.000	N	0.7	N	3.27	T	-0.939	T	0.016	T	0.068	-1.239	0.055	0.761	0.009	0.234	6.456	0.029	0.00226564643552	.	.	1.652e-05	0	8.652e-05	0	0	0	0	6.075e-05	2.59e-05	4	154602	rs202105575	5.747e-05	5.746e-05	5.854e-05	5.639e-05	0.0002	4.744e-05	4.367e-05	5.248e-05	4.823e-05	2.987e-05	6.71e-05	0	2.52e-05	0	0.0002	6.476e-05	4.969e-05	3.479e-05	5.911e-05	5.906e-05	6.426e-05	5.373e-05	0.0004	3.076e-05	2.209e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0.0034	0	0.0005	0	0.461	0.08710	T	0.359	0.17014	T	0.004	0.12183	B	0.003	0.08700	B	0.503217	0.05104	N	1.335750	1	0.08975	N	1.285	0.32305	L	3.27	0.06602	T	-1.58	0.38151	N	0.24	0.27077	-0.9387	0.42822	T	0.016	0.06664	T	10	0.080651134	0.13115	T	0.002266	0.04314	T	0.029	0.06676	0.492	0.57890	0.0297737177859	0.01360	0.35767769461205245	0.35681	0.0568055738289	0.06281	0.262918442488	0.05243	T	5.8E-4	0.00238	T	-0.527728	0.00396	T	-0.792221	0.02105	T	0.0170827880501747	0.00455	T	0.442056	0.12263	T	0.03768783	0.04878	0.06877765	0.14407	0.03768783	0.04878	0.06877765	0.14407	-3.567	0.17381	T	.	.	0.081	0.08465	B	.	.	-0.189316	0.03145	0.508	0.16506673427735899	0.00445	0.03657	0.08914	N	AEFGBI	0.061965	0.11882	N	-1.20117677795653	0.04984	0.2261396	-1.22470879024877	0.05515	0.2629893	5.28020729561185E-5	0.04171	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.15	0.761	0.17594	0.256000	0.18120	0.242000	0.16320	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3564:0.0:0.6436:0.0	6.456	0.21128	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	34	chr20	33037610	.	G	A	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=768;ExcessHet=0.0000;FS=1.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.301;SOR=0.528	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1004,0,1117	20	0	1	0
chr20	36198013	36198013	C	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon13:c.C1418G:p.P473R	.	.	3	1492	25	2	0	29	0.00962496	.	.	134443	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.47	T	0.995	D	0.944	D	0.000	N	1.000	D	0.895	L	-1.76	D	-0.070	T	0.516	D	0.486	2.498	14.31	5.15	2.404	7.133	17.620	0.164	.	0.0062	0.00599042	0.0083	0.0021	0.0026	0	0.0050	0.0092	0.0023	0.0179	0.0077231	1194	154602	rs6089016	0.0070	0.0070	0.0067	0.0073	0.0170	0.0069	0.0068	0.0162	0.0160	0.0011	0.0025	0.0053	2.519e-05	0.0059	0.0080	0.0069	0.0062	0.0170	0.0052	0.0052	0.0053	0.0049	0.0164	0.0049	0.0047	0.0135	0.0124	0.0014	0	0.0050	0.0052	0	0.0048	0.0034	0.0071	0.0076	0.0164	0.018	0.61437	D	0.03	0.54159	D	0.009	0.67487	B	0.008	0.68059	B	0.000049	0.53742	N	0.193004	0.999995	0.58761	D	0.695	0.17993	N	-1.95	0.85613	D	-2.3	0.58407	N	0.468	0.65501	-0.0703	0.80774	T	0.516	0.81898	D	10	0.005582273	0.00123	T	.	.	.	0.414	0.72479	.	.	0.577202177789	0.57390	0.41474725758799835	0.41390	0.826141838325	0.67412	0.681493759155	0.64483	T	0.468462	0.80238	T	-0.229641	0.16695	T	-0.0883602	0.64286	T	0.0296726304998751	0.01939	T	0.961004	0.88660	D	0.15671715	0.35351	0.13630909	0.32611	0.16008583	0.35926	0.175177	0.39965	-9.304	0.73244	D	0.2840188812731129	0.37976	0.389	0.62801	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.910477	0.57021	23.8	0.99599050687473634	0.74101	0.99295	0.94095	D	AEFDBI	0.928332	0.91238	D	0.0591614778270958	0.44565	2.72824	0.155281261005179	0.47422	2.972692	0.999974069287737	0.50053	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.15	5.15	0.70287	7.426000	0.79456	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	17.620	0.87979	715	0.56137	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.04762	8720.08	36	chr20	36198013	.	C	G	8720.08	.	AC=2;AF=0.048;AN=42;DP=1044;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.97;SOR=0.895	GT:AD:DP:GQ:PL	1/1:0,291:291:99:8748,873,0	20	1	0	0
chr20	41202906	41202906	C	T	exonic	ZHX3	.	nonsynonymous SNV	ZHX3:NM_001384319:exon2:c.G2011A:p.E671K	.	.	415	1094	13	0	0	13	0.00590641	.	.	1528407	ZHX3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.291	B	0.238	B	0.003	N	1.000	D	2.005	M	2.99	T	-0.345	T	0.335	T	0.295	1.763	11.85	6.06	2.879	3.458	19.613	0.090	0.00735749503526	0.0025	0.00119808	0.0027	0.0003	0.0005	0	0.0021	0.0035	0.0033	0.0038	0.0005175	80	154602	rs41277006	0.0032	0.0032	0.0031	0.0033	0.0045	0.0031	0.0031	0.0036	0.0035	0.0006	0.0010	0.0026	0	0.0022	0.0045	0.0035	0.0026	0.0040	0.0027	0.0027	0.0027	0.0026	0.0044	0.0025	0.0024	0.0037	0.0036	0.0006	0	0.0024	0.0029	0	0.0022	0.0102	0.0041	0.0047	0.0044	0.258	0.16683	T	0.274	0.24549	T	0.003	0.11197	B	0.006	0.12133	B	0.003367	0.35041	N	0.336597	0.678956	0.81001	D	1.265	0.31966	L	2.99	0.11298	T	-0.28	0.11547	N	0.215	0.24758	-0.3447	0.73708	T	0.335	0.70174	T	10	0.0054009557	0.00119	T	0.007357	0.19523	T	0.090	0.26093	.	.	0.350307294319	0.34646	0.49029880197784004	0.48949	0.262882865191	0.28850	0.342092990875	0.16751	T	0.007531	0.06930	T	-0.507511	0.00519	T	-0.502301	0.22110	T	0.0147433289886283	0.00308	T	0.806319	0.46368	T	0.07875354	0.17954	0.114572115	0.27656	0.07875354	0.17954	0.114572115	0.27655	-5.289	0.39834	T	.	.	0.104	0.18910	B	.;.;.;.;.	.;.;.;.;.	3.034932	0.40663	21.2	0.9951235296854688	0.68739	0.86815	0.46179	D	AEFDBI	0.370191	0.45665	N	0.412148920361317	0.62088	4.419288	0.484663891136411	0.66972	5.022333	0.796751438916223	0.24113	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	2.824000	0.47789	4.895000	0.45803	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.613	0.95607	950	0.11238	Homeobox domain;Homeobox domain;.;Homeobox domain;Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	33	chr20	41202906	.	C	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=884;ExcessHet=0.0000;FS=2.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.452;SOR=0.910	GT:AD:DP:GQ:PL	0/1:91,85:176:99:2163,0,2456	20	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?,	.	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4857.64	34	chr20	45857313	.	C	CATCT	4857.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.298;DP=879;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=0.126;SOR=0.691	GT:AD:DP:GQ:PL	0/1:46,57:103:99:2235,0,1760	18	0	3	0
chr20	49255869	49255869	C	T	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon9:c.G2743A:p.E915K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.988	D	0.000	N	1.000	D	1.59	L	2.0	T	0.435	D	0.711	D	0.524	3.473	17.78	4.8	1.440	2.834	13.779	0.431	0.198294072338	7.7e-05	.	4.121e-05	0	0.0002	0	0	4.498e-05	0	0	3.88e-05	6	154602	rs370193043	1.915e-05	1.915e-05	1.906e-05	1.925e-05	2.987e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	2.987e-05	2.237e-05	3.826e-05	0	0	0	2.158e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.50132	D	0.034	0.52727	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	N	0.048469	0.999978	0.53665	D	2.495	0.72670	M	2.0	0.87512	T	-2.56	0.60029	D	0.349	0.40665	0.435	0.89616	D	0.711	0.90065	D	10	0.5116477	0.62131	D	0.198294	0.86587	D	0.431	0.73735	.	.	0.468403962347	0.46465	0.6296866376320012	0.62902	1.28626484683	0.82670	0.545753419399	0.45258	T	0.473627	0.80541	T	-0.0252835	0.48096	T	-0.0982476	0.63533	T	0.848875999450684	0.50069	D	0.762324	0.38756	T	0.5833921	0.71793	0.4070464	0.65060	0.5833921	0.71794	0.4070464	0.65060	-10.611	0.77482	D	.	.	0.083	0.23041	B	.;.;.;.	.;.;.;.	3.495426	0.48878	22.7	0.99896755827449613	0.96971	0.89395	0.49834	D	AEFGBCI	0.346711	0.44143	N	0.207876204210032	0.51579	3.33815	0.15285436409396	0.47292	2.961752	0.999999950507202	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.8	0.61157	2.903000	0.48409	2.723000	0.34327	-0.171000	0.11205	0.990000	0.36992	0.993000	0.31925	0.017000	0.10941	0.0:0.9256:0.0:0.0744	13.779	0.62561	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	37	chr20	49255869	.	C	T	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=786;ExcessHet=0.0000;FS=9.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.630e-01;SOR=1.564	GT:AD:DP:GQ:PL	0/1:30,28:58:99:698,0,622	20	0	1	0
chr20	50876561	50876561	G	A	exonic	BCAS4	.	nonsynonymous SNV	BCAS4:NM_001010974:exon4:c.G430A:p.A144T	.	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.017	B	0.005	B	.	.	1.000	N	0.69	N	0.88	T	-1.035	T	0.064	T	0.187	1.631	11.41	-4.59	-0.797	-0.666	5.687	0.013	0.00395829716184	0.0005	0.00139776	0.0012	9.63e-05	8.639e-05	0	0	0.0009	0	0.0050	0.0010673	165	154602	rs140059699	0.0008	0.0008	0.0006	0.0011	0.0068	0.0008	0.0008	0.0051	0.0049	8.962e-05	4.472e-05	3.826e-05	2.519e-05	0.0005	0.0068	0.0005	0.0012	0.0055	0.0007	0.0007	0.0006	0.0009	0.0060	0.0006	0.0006	0.0043	0.0037	9.629e-05	0	0.0003	0	0	0.0003	0	0.0010	0.0005	0.0060	0.247	0.17296	T	0.333	0.23298	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.92	0.24676	N	0.09	0.06854	-1.0350	0.18857	T	0.064	0.26632	T	9	0.004542947	0.00094	T	0.003958	0.09368	T	0.013	0.01715	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	.	.	.	-0.591353	0.00165	T	-0.62071	0.11130	T	0.00531361838367723	0.00057	T	0.452755	0.13579	T	.	.	.	.	.	.	.	.	-3.972	0.23383	T	.	.	0.068	0.05188	B	.;.	.;.	-0.179558	0.03195	0.528	0.91878425137019026	0.21195	0.01450	0.04859	N	AEFDBI	0.023275	0.01274	N	-1.39248706274035	0.02708	0.1199527	-1.48093835043399	0.02500	0.1151166	0.304618075066319	0.19225	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.0	-4.59	0.03158	-0.655000	0.05447	-2.330000	0.03891	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5908:0.0:0.259:0.1501	5.687	0.17079	812	0.42537	.;.	.	.	.	.	.	Likely benign	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	0.02381	1990.98	34	chr20	50876561	.	G	A	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.873;DP=840;ExcessHet=0.0000;FS=3.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.464;SOR=0.979	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2005,0,1651	20	0	1	0
chr20	57407757	57407757	G	A	exonic	RBM38	.	nonsynonymous SNV	RBM38:NM_017495:exon4:c.G631A:p.V211M	.	.	428	1064	29	1	0	31	0.0143585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.012	B	0.004	B	0.080	N	0.998	N	0.57	N	1.41	T	-1.102	T	0.028	T	0.152	0.740	7.928	-9.95	-2.001	-0.196	7.651	0.019	.	0.0042	0.00599042	0.0084	0.0017	0.0154	0.0006	0.0045	0.0071	0.0093	0.0164	0.0061642	953	154602	rs201066490	0.0065	0.0065	0.0063	0.0068	0.0147	0.0064	0.0064	0.0140	0.0137	0.0009	0.0103	0.0173	0.0002	0.0034	0.0069	0.0060	0.0070	0.0147	0.0047	0.0047	0.0046	0.0049	0.0157	0.0045	0.0043	0.0129	0.0118	0.0011	0.0175	0.0058	0.0181	0.0006	0.0024	0.0102	0.0057	0.0047	0.0157	0.115	0.31834	T	0.149	0.32568	T	0.012	0.16265	B	0.004	0.10090	B	0.080483	0.02349	N	1.912780	0.880397	0.28059	N	1.295	0.32453	L	1.41	0.33412	T	-0.2	0.12099	N	0.076	0.09490	-1.1020	0.03857	T	0.028	0.11838	T	10	0.0036640763	0.00067	T	.	.	.	0.019	0.03383	.	.	0.487798543462	0.48413	0.4323868510527391	0.43155	0.100397253384	0.11348	0.590962946415	0.51630	T	0.004799	0.11621	T	-0.57872	0.00196	T	-0.591744	0.13515	T	0.00342950142966028	0.00036	T	0.528747	0.17479	T	0.022766342	0.00963	0.036473185	0.03101	0.022766342	0.00963	0.036473185	0.03101	-5.337	0.40308	T	.	.	0.105	0.19316	B	.;.	.;.	-0.365235	0.02346	0.254	0.7602595964562967	0.11304	0.24817	0.22510	N	AEFDGBHCI	.	.	.	-1.53456264575026	0.01627	0.07113044	-1.63494988497937	0.01455	0.06584296	0.999999999938896	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.98	-9.95	0.00369	-0.078000	0.11338	-5.660000	0.01639	-1.649000	0.00828	0.446000	0.26534	0.000000	0.08366	0.007000	0.07825	0.3395:0.3704:0.2901:0.0	7.651	0.27513	834	0.38640	.;.	.	.	.	.	.	Likely benign	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	0.02381	1353.98	34	chr20	57407757	.	G	A	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=899;ExcessHet=0.0000;FS=0.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=1.02;SOR=0.605	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1368,0,1659	20	0	1	0
chr20	62313454	62313454	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon64:c.C8665T:p.P2889S,	.	.	400	1104	18	0	0	18	0.00808625	.	.	717103	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.072	B	0.043	B	0.296	U	1.000	N	0.27	N	2.41	T	-1.005	T	0.016	T	0.179	-1.606	0.014	-0.228	-0.011	-0.376	8.477	0.026	0.0094599243594	0.0037	0.00259585	0.0051	0.0016	0.0067	0	0.0009	0.0072	0.0052	0.0008	0.0036739	568	154602	rs138708242	0.0044	0.0044	0.0045	0.0044	0.0185	0.0043	0.0043	0.0156	0.0146	0.0013	0.0086	0.0028	0	0.0003	0.0185	0.0049	0.0051	0.0006	0.0042	0.0042	0.0041	0.0043	0.0094	0.0039	0.0038	0.0082	0.0077	0.0012	0.0186	0.0094	0.0035	0	0.0004	0.0204	0.0057	0.0090	0.0008	0.75	0.03587	T	0.785	0.04260	T	0.072	0.23997	B	0.043	0.24256	B	0.296417	0.03927	U	1.883920	1	0.08975	N	0.245	0.09735	N	2.41	0.15492	T	-1.11	0.28703	N	0.211	0.23506	-1.0049	0.28487	T	0.016	0.06664	T	10	0.0032201707	0.00055	T	0.00946	0.24786	T	0.026	0.05648	.	.	0.340432005269	0.33650	0.30327949198543697	0.30240	.	.	0.255870610476	0.04411	T	0.104271	0.41368	T	-0.63588	0.00088	T	-0.681609	0.06886	T	0.00242892271330381	0.00025	T	0.582642	0.21138	T	0.03070166	0.02780	0.034928128	0.02650	0.03070166	0.02779	0.034928128	0.02650	-6.135	0.47395	T	.	.	0.072	0.04316	B	.	.	0.632260	0.10007	6.760	0.52933846019157904	0.04842	0.15193	0.18790	N	AEFGBCI	0.169019	0.29582	N	-1.37759800172214	0.02849	0.1263878	-1.38366810103709	0.03425	0.1597595	0.899052213945012	0.26041	0.706548	0.73137	0	0.588066	0.40923	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.34	-0.228	0.12452	-0.504000	0.06456	0.043000	0.13895	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4085:0.4355:0.156	8.477	0.32179	774	0.48577	Laminin G domain|Laminin G domain|Laminin G 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	1	0	0	0	0.07143	3793.66	37	chr20	62313454	.	G	A	3793.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.930;DP=931;ExcessHet=0.0000;FS=3.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.18;ReadPosRankSum=0.966;SOR=0.433	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2954,297,0	19	1	1	0
chr20	62318945	62318945	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon52:c.C6940T:p.R2314W,	.	.	412	1100	10	0	0	10	0.00452489	.	.	2128698	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.06	B	0.013	B	0.061	N	1.000	N	1.1	L	2.78	T	-1.005	T	0.013	T	0.182	0.602	7.243	0.458	-0.183	2.070	4.828	0.036	0.0371110188731	0.0003	0.000599042	0.0005	0	0.0007	0	0.0005	0.0007	0	0.0004	0.0003169	49	154602	rs201303962	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0041	0.0035	0.0001	0.0004	0	0	4.16e-05	0.0056	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	2.407e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0006	0.173	0.22573	T	0.052	0.47581	T	0.06	0.23119	B	0.013	0.16460	B	0.061045	0.22202	N	0.452057	0.999999	0.08975	N	1.08	0.27187	L	2.78	0.11298	T	-3.64	0.69835	D	0.29	0.32812	-1.0054	0.28337	T	0.013	0.05081	T	10	0.030061334	0.01132	T	0.037111	0.57411	D	0.036	0.09122	.	.	0.206203607746	0.20212	0.324488234620309	0.32361	.	.	0.470058590174	0.34688	T	0.113339	0.43031	T	-0.522781	0.00424	T	-0.606747	0.12250	T	0.0632181531677816	0.07666	T	0.682432	0.29103	T	0.10287255	0.24311	0.07624333	0.16869	0.10287255	0.24310	0.07624333	0.16868	-6.894	0.53255	T	.	.	0.102	0.17827	B	.	.	3.188377	0.43307	21.7	0.92787345666927878	0.22306	0.26152	0.22910	N	AEFDGBCI	0.208027	0.33415	N	-0.997228787310727	0.08663	0.407031	-1.04039814860417	0.08908	0.4403721	0.670159914126991	0.22366	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.25	0.458	0.15882	2.739000	0.47083	0.897000	0.22519	0.653000	0.53440	0.937000	0.32526	0.000000	0.08366	0.002000	0.04165	0.2242:0.0:0.6165:0.1593	4.828	0.12789	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.66	33	chr20	62318945	.	G	A	3205.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.99;DP=815;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-3.580e-01;SOR=0.562	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1979,177,0	19	1	1	0
chr20	62813171	62813171	C	0	exonic	OGFR	.	.	.	.	.	408	1041	47	1	25	74	0.0229939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	3398.84	55	chr20	62813171	.	C	T,*	3398.84	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.06;DP=927;ExcessHet=0.0409;FS=0.499;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.05;SOR=0.630	GT:AD:DP:GQ:PL	1/1:0,89,0:89:99:2808,266,0,2808,266,2808	17	1	1	0
chr20	63738330	63738330	C	T	exonic	LIME1	.	nonsynonymous SNV	LIME1:NM_017806:exon5:c.C416T:p.A139V,	.	.	428	1091	3	0	0	3	0.001373	.	.	3276905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-0.345	N	1.04	T	-0.987	T	0.034	T	0.035	0.382	6.072	-4.0	-1.201	-0.449	8.530	0.012	0.00952608720948	0.0003	0.000199681	0.0004	0	0	0.0010	0	0.0009	0	0	0.0001746	27	154602	rs143622346	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	9.303e-05	2.643e-05	0	2.712e-05	9.356e-05	0.0004	0.0003	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	9.618e-05	0	0.0003	0	0	0	0	0.0004	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.04	0.40218	T	-0.11	0.08653	N	0.051	0.02272	-0.9872	0.33298	T	0.034	0.14726	T	9	0.008592039	0.00195	T	0.009526	0.24947	T	0.012	0.01476	.	.	0.101711395817	0.09552	0.03961686999094114	0.03907	0.379646040224	0.39352	0.556984305382	0.46842	T	0.013414	0.11608	T	-0.61372	0.00120	T	-0.793401	0.02072	T	0.0239622077529509	0.01140	T	0.40206	0.10263	T	0.019155324	0.00441	0.03755829	0.03434	0.019155324	0.00441	0.03755829	0.03434	-4.954	0.36336	T	.	.	0.094	0.14385	B	.;.	.;.	-0.361748	0.02359	0.257	0.82094788473890268	0.14016	0.70037	0.34427	D	ALL	0.027111	0.02156	N	-1.7715623893433	0.00618	0.0266631	-1.79471126325982	0.00776	0.03462536	0.999999999999906	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.664235	0.64389	0	.	.	3.61	-4.0	0.03787	-0.042000	0.12016	-1.941000	0.04461	-0.525000	0.04972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1156:0.7613:0.0:0.1231	8.530	0.32490	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	47	chr20	63738330	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=929;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=2.14;SOR=0.662	GT:AD:DP:GQ:PL	0/1:32,56:88:99:1428,0,706	20	0	1	0
chr21	36756630	36756630	C	T	exonic	HLCS	.	nonsynonymous SNV	HLCS:NM_001352514:exon10:c.G2362A:p.V788M	Holocarboxylase synthetase deficiency, Autosomal recessive	YES	0	1501	21	0	0	21	0.00694674	.	.	200364	not_provided|Holocarboxylase_synthetase_deficiency	MedGen:C3661900|MONDO:MONDO:0009666,MedGen:C0268581,OMIM:253270,Orphanet:79242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.622	P	0.31	B	0.024	N	1.000	D	1.69	L	-4.24	D	0.487	D	0.764	D	0.264	1.349	10.43	1.63	0.382	0.921	9.922	0.415	.	0.0032	0.00199681	0.0048	0.0008	0.0016	0	0.0160	0.0060	0.0044	0.0027	0.0043725	676	154602	rs150665851	0.0043	0.0043	0.0043	0.0042	0.0042	0.0042	0.0042	0.0041	0.0040	0.0007	0.0017	0.0090	2.519e-05	0.0143	0.0019	0.0042	0.0040	0.0030	0.0038	0.0038	0.0034	0.0042	0.0045	0.0035	0.0034	0.0041	0.0039	0.0007	0.0318	0.0024	0.0075	0	0.0119	0	0.0045	0.0033	0.0025	0.003	0.68238	D	0.017	0.60337	D	0.622	0.39964	P	0.31	0.41396	B	0.023998	0.26342	N	0.344786	0.609304	0.32607	D	1.935	0.51832	L	-4.24	0.97030	D	-1.16	0.29727	N	0.633	0.64648	0.487	0.90361	D	0.764	0.91984	D	10	0.009711772	0.00218	T	.	.	.	0.415	0.72555	.	.	0.931535456389	0.93083	0.6482827120664255	0.64764	0.234146051628	0.25950	0.364446103573	0.20031	T	0.180305	0.53159	T	-0.226473	0.17117	T	-0.0963082	0.63683	T	0.00652403965040004	0.00073	T	0.865613	0.56501	D	0.06632385	0.14260	0.095112324	0.22542	0.068587825	0.14955	0.11685235	0.28208	-8.188	0.62344	D	0.4297220528201807	0.51706	0.183	0.39647	B	.;.;.	.;.;.	1.824112	0.23182	15.92	0.99360019055759596	0.60946	0.29608	0.23866	N	AEFDBHCIJ	0.111015	0.21994	N	-0.671901752424891	0.16825	0.8606247	-0.771941803288201	0.15184	0.7973016	0.999963299004015	0.48965	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	4.74	1.63	0.22882	0.957000	0.28812	0.955000	0.22950	-0.180000	0.10397	0.288000	0.25215	0.020000	0.20764	0.005000	0.06747	0.2789:0.5863:0.1347:0.0	9.922	0.40639	950	0.11238	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain;Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain;Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), 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	0	0	1	0	0.02381	1083.98	45	chr21	36756630	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.871;DP=865;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.650;SOR=0.471	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1098,0,1201	20	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	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	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,11:101:7:0|1:41918930_C_G:7,0,3402:41918930	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,11:101:7:0|1:41918930_C_G:7,0,3402:41918930	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	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	0.2143	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,11:100:10:0|1:41918930_C_G:10,0,3381:41918930	12	0	9	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:29,32,0:61:99:1186,0,958,1273,1087,2360	5	1	7	3
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109,0:109:99:1|1:44558605_G_A:4857,328,0,4857,328,4857:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107,0:107:99:1|1:44558605_G_A:4762,322,0,4762,322,4762:44558605	0	17	3	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/1:168,36,0:204:99:529,0,4366,1031,4474,5505	13	0	7	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:181,0,154:335:99:5784,6386,14075,0,7354,6928	3	1	0	1
chr21	44711471	44711471	G	A	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon1:c.C44T:p.A15V,	Deafness, autosomal recessive 98, Autosomal recessive	.	7	1504	11	0	0	11	0.00364359	.	.	231380	not_specified|TSPEAR-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_98	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013929,MedGen:C3553932,OMIM:614861,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	0.917	N	1.000	N	-0.69	N	0.99	T	-1.013	T	0.019	T	0.073	-2.402	0.003	1.91	0.891	1.217	5.400	0.053	0.00746741776926	0.0014	0.00279553	0.0031	0.0007	0.0023	0.0002	0.0036	0.0035	0.0066	0.0048	0.0022315	345	154602	rs150107590	0.0025	0.0025	0.0025	0.0025	0.0068	0.0025	0.0024	0.0051	0.0045	0.0005	0.0029	0.0037	7.573e-05	0.0010	0.0068	0.0026	0.0030	0.0037	0.0019	0.0019	0.0019	0.0019	0.0059	0.0017	0.0017	0.0049	0.0045	0.0004	0	0.0059	0.0046	0	0.0010	0.0068	0.0019	0.0038	0.0037	0.305	0.14256	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.917241	0.08512	N	0.953699	1	0.08975	N	-0.55	0.02420	N	0.99	0.41750	T	-0.09	0.08340	N	0.259	0.29313	-1.0129	0.26007	T	0.019	0.08033	T	10	0.006333798	0.00143	T	0.007467	0.19819	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.31947340225221965	0.31860	0.0500189367381	0.05491	0.467254459858	0.34304	T	0.017467	0.14244	T	-0.642931	0.00080	T	-0.697141	0.05984	T	0.00545191142573517	0.00059	T	0.484552	0.14745	T	0.025118157	0.01415	0.048301548	0.07144	0.026282787	0.01666	0.049731247	0.07660	-3.757	0.20164	T	.	.	0.083	0.09288	B	.;.	.;.	0.930172	0.13055	9.558	0.6341115104992594	0.07217	0.18973	0.20477	N	AEFDBHCI	0.054761	0.09986	N	-1.10595325282605	0.06536	0.3011594	-1.01198297237871	0.09521	0.4741617	0.999971559507677	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.76	1.91	0.24841	1.342000	0.33524	2.079000	0.30484	-0.119000	0.14319	0.937000	0.32526	0.989000	0.31174	0.001000	0.02609	0.2563:0.0:0.7437:0.0	5.400	0.15588	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1063.98	34	chr21	44711471	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.710e-01;DP=810;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-4.600e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1078,0,1472	20	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H	.	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.78	P	0.045	N	1.000	D	0.345	N	3.56	T	-0.793	T	0.011	T	0.223	3.669	18.65	4.57	1.352	3.917	9.374	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	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	0.04762	1486.11	35	chr22	17689010	.	G	A	1486.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=804;ExcessHet=0.1072;FS=3.136;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.749;SOR=0.441	GT:AD:DP:GQ:PL	0/1:31,30:61:99:727,0,725	19	0	2	0
chr22	17817512	17817512	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.G5149A:p.E1717K,	.	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.76	P	0.026	B	0.012	N	1.000	D	0.895	L	-0.25	T	-0.925	T	0.118	T	0.258	2.851	15.50	3.64	1.180	5.621	12.733	0.115	0.0428163544247	0.0013	0.000199681	0.0009	0.0003	0.0005	0.0002	0	0.0012	0	0.0012	0.0009444	146	154602	rs200164491	0.0014	0.0014	0.0014	0.0014	0.0038	0.0014	0.0013	0.0026	0.0022	0.0002	0.0011	3.827e-05	0.0001	9.404e-05	0.0038	0.0016	0.0017	0.0015	0.0010	0.0010	0.0010	0.0011	0.0017	0.0009	0.0009	0.0013	0.0012	0.0004	0	0.0016	0	0.0004	0	0.0034	0.0015	0.0024	0.0017	0.011	0.55530	D	0.176	0.29843	T	0.76	0.43524	P	0.026	0.20792	B	0.012419	0.29184	N	0.361737	0.83948	0.28651	N	1.795	0.47270	L	-0.25	0.67011	T	-1.86	0.43524	N	0.229	0.25745	-0.9247	0.44901	T	0.118	0.41407	T	10	0.023452848	0.00614	T	0.042816	0.60661	D	0.115	0.32236	.	.	0.123314135267	0.11883	0.15541836636807116	0.15462	0.340254847431	0.35964	0.510360002518	0.40273	T	0.015462	0.12966	T	-0.358561	0.04212	T	-0.301055	0.44614	T	0.0615060188865142	0.07403	T	0.877312	0.59062	D	0.03491266	0.04010	0.07225013	0.15564	0.03491266	0.04010	0.07225013	0.15564	-5.826	0.44800	T	.	.	0.159	0.35162	B	.	.	3.326268	0.45769	22.2	0.99839761623429113	0.92057	0.96840	0.71224	D	AEFBI	0.695801	0.65435	D	-0.198065666372525	0.33213	1.881865	-0.125928761184253	0.34348	1.974759	0.999138840032575	0.38535	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.65	3.64	0.40864	5.854000	0.69242	5.771000	0.49743	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.9206:0.0:0.0794	12.733	0.56581	982	0.03397	.	.	.	.	.	.	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	0.02381	1373.98	60	chr22	17817512	.	C	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.073;DP=1040;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.280e-01;SOR=0.981	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1388,0,1419	20	0	1	0
chr22	18607171	18607171	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4264A:p.E1422K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.003	B	0.001	N	1.000	N	0.145	N	2.29	T	-1.012	T	0.024	T	0.111	0.056	4.306	0.895	0.115	-0.659	6.271	0.013	0.00187831387551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.156e-07	1.374e-06	0	1.445e-06	2.688e-05	0	0	.	.	0	0	0	2.688e-05	0	0	0	0	0	0	6.676e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.812	0.03921	T	.	.	.	.	.	.	0.000866	0.00701	N	3.600910	1	0.08975	N	0.58	0.15352	N	.	.	.	.	.	.	0.162	0.17002	-1.0121	0.26259	T	0.024	0.10103	T	10	0.066018134	0.08994	T	0.001878	0.03299	T	.	.	.	.	0.0297737177859	0.01360	0.25057760538401175	0.24971	.	.	0.417588680983	0.27505	T	0.001426	0.00883	T	-0.307563	0.07964	T	-0.67957	0.07010	T	0.0884118601679802	0.11027	T	0.489851	0.15048	T	0.020905292	0.00667	0.040225882	0.04299	0.020905292	0.00666	0.040225882	0.04299	-3.48	0.16153	T	.	.	0.074	0.05017	B	.	.	-0.171186	0.03241	0.546	0.5992992864663651	0.06341	0.03229	0.08242	N	AEFI	0.042580	0.06624	N	-1.51433633603884	0.01755	0.07685525	-1.5173685805667	0.02211	0.1013159	1.43440933080779E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	0.895	0.18380	-1.745000	0.01930	-0.750000	0.07581	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7375:0.0:0.2625	6.271	0.20163	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	472.33	33	chr22	18607171	.	C	T	472.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.730e-01;DP=753;ExcessHet=0.0000;FS=2.184;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.52;MQRankSum=0.657;QD=5.49;ReadPosRankSum=1.76;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,25:86:99:0|1:18607171_C_T:486,0,1709:18607171	19	0	1	1
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	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	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,188:188:99:.:.:5573,563,0	3	11	7	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:63,31:94:99:1112,0,2539	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:60,15:75:99:186,0,1595	12	0	9	0
chr22	24749735	24749735	G	A	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon10:c.C1174T:p.R392C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.915	D	0.951	U	1.000	N	1.1	L	2.95	T	-1.040	T	0.035	T	0.327	1.969	12.54	-3.34	-0.661	-0.126	1.490	0.082	0.00075509984271	.	.	3.297e-05	0	0	0	0	4.498e-05	0	6.06e-05	2.59e-05	4	154602	rs746127800	2.121e-05	2.326e-05	1.77e-05	2.475e-05	0.0002	1.52e-05	1.324e-05	4.579e-05	3.272e-05	0	2.236e-05	3.827e-05	0	0	0.0002	1.619e-05	3.312e-05	9.275e-05	6.594e-06	2.629e-05	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.044	0.41096	D	0.054	0.47097	T	0.996	0.70673	D	0.915	0.65091	D	0.950824	0.07655	U	1.038310	1	0.08975	N	0.805	0.20218	L	2.95	0.09635	T	-1.32	0.32991	N	0.17	0.18103	-1.0397	0.17404	T	0.035	0.15291	T	10	0.17070723	0.31749	T	7.55E-4	0.00529	T	0.082	0.23913	0.539	0.65018	0.473378105536	0.46967	0.14051864414911575	0.13974	0.159545513613	0.18006	0.234170407057	0.02290	T	0.006762	0.06189	T	-0.371035	0.03541	T	-0.589215	0.13734	T	0.0854482369230336	0.10669	T	0.659134	0.26825	T	0.113053456	0.26702	0.078731045	0.17660	0.113053456	0.26702	0.078731045	0.17659	-5.945	0.45816	T	.	.	0.213	0.54138	B	.;.;.;.	.;.;.;.	2.145291	0.27324	17.42	0.99419349903770238	0.63694	0.00815	0.03299	N	AEFDGBI	0.052582	0.09398	N	-0.809261582311681	0.13073	0.6415108	-1.06013515063973	0.08496	0.4180562	0.948100589546907	0.27784	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	2.29	-3.34	0.04635	-0.051000	0.11840	-0.046000	0.12607	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1211:0.3248:0.2264:0.3277	1.490	0.02305	483	0.77230	PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain;PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1882.98	36	chr22	24749735	.	G	A	1882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=971;ExcessHet=0.0000;FS=3.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-3.180e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:45,78:123:99:1897,0,959	20	0	1	0
chr22	26541507	26541507	G	A	exonic	TPST2	.	nonsynonymous SNV	TPST2:NM_001362922:exon2:c.C124T:p.R42W	.	.	.	.	.	.	.	.	.	.	.	2692185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.158	N	1.000	N	0.55	N	.	.	-1.073	T	0.050	T	0.442	-0.306	2.541	-2.79	-0.358	0.052	4.333	0.078	0.0235195756217	.	0.000199681	1.779e-05	0.0001	0	0	0	1.622e-05	0	0	4.53e-05	7	154602	rs538180758	4.797e-06	4.788e-06	2.727e-06	6.889e-06	0.0001	2e-06	1.28e-06	5.859e-05	3.765e-05	0.0001	0	0	0	0	0	9.002e-07	1.659e-05	0	1.969e-05	1.968e-05	1.284e-05	2.684e-05	7.214e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	0	0	0	0.195	0.39097	T	0.023	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.158297	0.17744	N	0.338820	1	0.08975	N	0.205	0.09354	N	.	.	.	-1.53	0.93764	N	0.169	0.17966	-1.0727	0.08830	T	0.050	0.21300	T	9	0.050989598	0.04914	T	0.02352	0.46484	T	0.078	0.22779	0.389	0.41115	0.161926535498	0.15789	0.4808169489926116	0.48001	0.611889816332	0.55805	0.679280519485	0.64164	T	0.166345	0.51254	T	-0.273111	0.11412	T	-0.350646	0.39131	T	0.00365601979987152	0.00039	T	0.780122	0.47762	T	0.034112874	0.03764	0.031928968	0.01852	0.034112874	0.03764	0.031928968	0.01852	-5.18	0.38738	T	.	.	0.124	0.28607	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.020583	0.25676	16.85	0.81157611088015258	0.13547	0.03437	0.08574	N	AEFDGBI	0.123358	0.23893	N	-1.24241423355179	0.04400	0.1985136	-1.29178772576656	0.04541	0.2144184	0.995031094680447	0.33919	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.25	-2.79	0.05494	0.389000	0.20478	0.292000	0.16883	-0.279000	0.06446	0.014000	0.18986	0.000000	0.08366	0.775000	0.36711	0.2599:0.0:0.3961:0.344	4.333	0.10512	975	0.05339	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1173.98	39	chr22	26541507	.	G	A	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=927;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.870e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:80,49:129:99:1188,0,1820	20	0	1	0
chr22	26607993	26607993	G	A	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon4:c.C328T:p.R110C,	Cataract 17, multiple types	.	0	1477	43	2	0	47	0.0156614	.	.	471814	not_specified|not_provided|Cataract_17_multiple_types	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.29	T	0.11	B	0.036	B	0.018	N	1.000	D	1.5	L	-1.2	T	-0.739	T	0.294	T	0.408	1.441	10.76	2.55	0.573	3.507	9.879	0.314	.	0.0032	0.00279553	0.0040	0.0005	0.0011	0	0.0002	0.0036	0.0055	0.0130	0.0037774	584	154602	rs147206089	0.0038	0.0038	0.0034	0.0042	0.0130	0.0037	0.0037	0.0119	0.0117	0.0005	0.0013	0.0074	2.519e-05	0.0003	0.0130	0.0035	0.0038	0.0125	0.0025	0.0025	0.0025	0.0024	0.0081	0.0023	0.0022	0.0061	0.0054	0.0005	0	0.0014	0.0084	0	0.0002	0.0034	0.0038	0.0024	0.0081	0.296	0.14694	T	0.334	0.18340	T	0.11	0.26188	B	0.036	0.22909	B	0.018280	0.27521	N	0.409242	1	0.81001	D	1.2	0.30300	L	-1.2	0.78537	T	-2.74	0.58248	D	0.56	0.58458	-0.7390	0.58504	T	0.294	0.66536	T	10	0.01889366	0.00416	T	.	.	.	0.314	0.63588	.	.	0.857164336281	0.85578	0.709777968785086	0.70919	0.44494330437	0.44396	0.426186293364	0.28687	T	0.303705	0.67604	T	-0.314402	0.07366	T	-0.213362	0.53372	T	0.00948379120019987	0.00122	T	0.89791	0.64303	D	0.23340948	0.46144	0.14586306	0.34577	0.27970907	0.51020	0.1532315	0.36015	-7.048	0.54383	T	0.14177902914573434	0.15978	0.150	0.33249	B	.;.	.;.	3.762870	0.53999	23.4	0.94776455865826359	0.25501	0.90965	0.52598	D	AEFDGBI	0.398102	0.47391	N	-0.238859755634585	0.31551	1.770245	-0.138961483284626	0.33837	1.939746	0.999981519265805	0.51787	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.64	2.55	0.29757	3.076000	0.49779	4.347000	0.43075	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1587:0.0:0.8413:0.0	9.879	0.40392	960	0.08626	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3622.11	37	chr22	26607993	.	G	A	3622.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1041;ExcessHet=0.1072;FS=0.790;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=1.13;SOR=0.643	GT:AD:DP:GQ:PL	0/1:97,72:169:99:1764,0,2380	19	0	2	0
chr22	27798761	27798761	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1783A:p.V595M,	Meningioma, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	3185002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.981	D	0.811	P	0.000	D	0.789	D	0.695	N	0.7	T	-0.797	T	0.139	T	0.387	3.315	17.15	3.69	2.192	3.400	12.140	0.116	0.385468462451	.	0.00119808	0.0014	0	0	0	0	0.0037	0.0088	0.0004	0.000608	94	154602	rs45473596	0.0010	0.0011	0.0010	0.0010	0.0072	0.0009	0.0009	0.0064	0.0062	0	5.602e-05	0.0033	0.0072	0.0182	0.0002	0.0003	0.0013	0.0001	0.0022	0.0022	0.0013	0.0031	0.0068	0.0020	0.0019	0.0050	0.0044	0	0	0	0.0023	0.0068	0.0192	0	0.0012	0.0024	0.0002	0.032	0.44694	D	0.253	0.23501	T	0.981	0.59675	D	0.811	0.58656	P	0.000123	0.49741	D	0.076135	0.788783	0.34359	D	1.24	0.30952	L	0.7	0.51474	T	-1.55	0.37566	N	0.361	0.40264	-0.7968	0.55333	T	0.139	0.45678	T	10	0.008271813	0.00188	T	0.385468	0.93069	D	0.116	0.32463	.	.	0.774937096104	0.77286	0.3503511186886075	0.34949	.	.	0.871688067913	0.92808	D	0.184321	0.53694	T	-0.398679	0.02362	T	-0.343809	0.39912	T	0.0571183187641392	0.06708	T	0.883612	0.60617	D	0.17091069	0.37694	0.3085466	0.56872	0.17091069	0.37694	0.3085466	0.56871	-4.139	0.25863	T	.	.	0.191	0.40921	B	.	.	3.499316	0.48948	22.7	0.99809602355447014	0.89353	0.92855	0.56711	D	AEFDBHCIJ	0.388201	0.46790	N	0.307900070443032	0.56554	3.820192	0.328788888391863	0.57236	3.888809	0.999999942630125	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	4.78	3.69	0.41483	3.325000	0.51742	3.760000	0.39715	0.442000	0.21104	0.997000	0.40164	0.999000	0.35428	0.836000	0.39433	0.0:0.8257:0.1743:0.0	12.140	0.53296	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	726.98	38	chr22	27798761	.	C	T	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.310e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:24,30:54:99:741,0,514	20	0	1	0
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2854.12	35	chr22	27798945	.	T	TTGC,TTGCTGC	2854.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.942;DP=853;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:26,19,0:45:99:671,0,1007,750,1065,1815	17	0	3	0
chr22	31715211	31715211	C	G	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G2628C:p.M876I,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	B	0.052	B	0.278	N	1.000	N	1.59	L	3.39	T	-0.963	T	0.004	T	0.211	1.285	10.20	1.91	0.192	-0.927	5.982	0.013	.	0.0018	0.0071885	0.0030	0.0004	0.0046	0.0224	0	0.0027	0.012	0.0029	0.0010026	155	154602	rs17821493	0.0023	0.0022	0.0023	0.0024	0.0456	0.0023	0.0022	0.0437	0.0430	6.329e-05	0.0006	0.0058	0.0456	0.0002	0.0032	0.0010	0.0024	0.0033	0.0023	0.0023	0.0020	0.0026	0.0376	0.0021	0.0020	0.0333	0.0316	0.0003	0	0.0003	0.0072	0.0376	0.0003	0	0.0013	0.0009	0.0048	0.031	0.45039	D	0.214	0.26386	T	0.103	0.25884	B	0.035	0.22741	B	0.277857	0.15001	N	0.613764	1	0.08975	N	0.975	0.24501	L	3.39	0.05710	T	-1.17	0.29933	N	0.069	0.04188	-0.9625	0.38704	T	0.004	0.01295	T	9	0.002544254	0.00039	T	.	.	.	0.013	0.01715	0.121	0.02793	0.0675242888579	0.06100	0.10400514562965342	0.10330	0.0736923506408	0.08266	0.229556292295	0.01935	T	0.005364	0.04811	T	-0.63439	0.00090	T	-0.646049	0.09234	T	0.00365912394581837	0.00039	T	0.671533	0.28021	T	0.09943628	0.23466	0.107457876	0.25869	0.09943628	0.23466	0.107457876	0.25869	-2.736	0.07610	T	.	.	0.326	0.54968	B	.	.	-0.339152	0.02450	0.281	0.61914870960416613	0.06829	0.06391	0.12393	N	AEFDBHCIJ	0.045501	0.07449	N	-0.799408466645517	0.13326	0.6556577	-0.860182440445369	0.13043	0.6744485	0.999835696603834	0.43792	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.342787	0.05754	3	.	.	5.25	1.91	0.24841	-1.257000	0.02976	-0.609000	0.08231	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.5479:0.2963:0.1558	5.982	0.18643	155	0.93937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2738.98	34	chr22	31715211	.	C	G	2738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.326e+00;DP=1324;ExcessHet=0.0000;FS=1.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.480e+00;SOR=0.735	GT:AD:DP:GQ:PL	0/1:120,114:234:99:2753,0,3325	20	0	1	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	1/2:0,42,21:63:99:2589,855,786,1742,0,1681	13	1	6	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P	.	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.956	D	0.079	N	0.984	D	3.03	M	-0.46	T	0.414	D	0.663	D	0.879	2.493	14.30	3.52	1.832	2.182	8.696	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	891.68	38	chr22	42128812	.	A	G	891.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.540e-01;DP=1677;ExcessHet=0.3300;FS=18.967;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=52.04;MQRankSum=-5.575e+00;QD=1.64;ReadPosRankSum=-3.230e+00;SOR=2.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,32:208:99:0|1:42128812_A_G:805,0,7275:42128812	18	0	3	0
chr22	46366404	46366404	G	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon30:c.C8282T:p.S2761L	.	.	413	1097	10	2	0	14	0.00634058	.	.	2819686	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.936	D	0.000	U	1.000	D	2.805	M	-0.65	T	0.289	D	0.556	D	0.581	3.186	16.66	4.47	2.195	8.984	17.095	0.518	0.652048848316	0.0026	0.00139776	0.0026	0	0	0	0	0.0040	0	0.0023	0.0009379	145	154602	rs144039991	0.0033	0.0032	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0017	0.0008	0.0023	0.0002	0.0051	0.0018	0.0037	0.0027	0.0019	0.0025	0.0025	0.0024	0.0025	0.0034	0.0023	0.0022	0.0030	0.0029	0.0014	0	0.0009	0.0023	0.0006	0.0041	0	0.0034	0.0024	0.0027	0.005	0.63226	D	0.002	0.79402	D	0.999	0.77913	D	0.936	0.67150	D	0.000009	0.62929	U	0.000000	0.999701	0.48408	D	2.995	0.85803	M	-0.65	0.72237	T	-5.28	0.84246	D	0.69	0.69562	0.289	0.87375	D	0.556	0.83785	D	10	0.032209724	0.01368	T	0.652049	0.97058	D	0.518	0.79461	.	.	0.740000015823	0.73766	0.4380938844681267	0.43726	0.64558191495	0.58000	0.732992649078	0.71943	T	0.698879	0.91312	D	-0.214281	0.18781	T	-0.0836275	0.64639	T	0.023954092948675	0.01139	T	0.948405	0.80130	D	0.5728782	0.71218	0.410385	0.65300	0.5728782	0.71219	0.410385	0.65300	-5.669	0.43417	T	.	.	0.279	0.51201	B	.	.	4.191034	0.63170	24.5	0.99814262028723832	0.89797	0.99414	0.95724	D	AEFDBI	0.897851	0.84048	D	0.733941608783556	0.81858	7.621505	0.636205278318237	0.77587	6.708175	0.999999999998004	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	7.909000	0.86849	9.191000	0.79130	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	17.095	0.86509	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1967.98	44	chr22	46366404	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.154;DP=984;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.08;SOR=0.867	GT:AD:DP:GQ:PL	0/1:69,80:149:99:1982,0,1619	20	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,43,0:95:99:0|1:49922276_G_T:1509,0,1830,1665,1959,3624:49922276	7	1	7	0
chr22	50447194	50447194	G	A	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon40:c.C5555T:p.P1852L	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	404	1098	20	0	0	20	0.00902527	.	.	729299	not_provided|SBF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.007	B	0.399	N	0.986	N	0.245	N	2.74	T	-0.977	T	0.015	T	0.422	1.000	9.083	1.13	0.809	0.027	0.574	0.105	.	0.0006	0.000399361	0.0009	0.0001	0.0006	0	0.0003	0.0008	0.0048	0.0023	0.0007568	117	154602	rs200103683	0.0010	0.0010	0.0010	0.0011	0.0033	0.0010	0.0010	0.0024	0.0023	0.0003	0.0008	0.0006	2.519e-05	1.886e-05	0.0033	0.0010	0.0014	0.0027	0.0009	0.0009	0.0007	0.0010	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0.0253	0.0007	0.0009	0	0	0.0136	0.0010	0.0009	0.0021	0.362	0.11844	T	0.309	0.19782	T	.	.	.	.	.	.	0.398856	0.13153	N	0.703897	0.991333	0.24688	N	.	.	.	2.74	0.11730	T	-2.18	0.49187	N	0.114	0.18920	-0.9768	0.35727	T	0.015	0.05897	T	10	0.005461335	0.00120	T	.	.	.	0.105	0.29889	.	.	0.187035705434	0.18338	0.20266938833719525	0.20183	.	.	0.519870519638	0.41609	T	.	.	.	-0.512535	0.00486	T	-0.515473	0.20754	T	0.0172567476001579	0.00467	T	0.906409	0.67021	D	0.04857597	0.08489	0.067611955	0.14011	0.06464465	0.13736	0.06420602	0.12833	-2.905	0.09193	T	0.06474752917698337	0.02085	0.063	0.01738	B	.;.	.;.	2.131483	0.27137	17.36	0.93772909762678169	0.23726	0.07198	0.13223	N	AEFBHCI	0.077809	0.15685	N	-0.740126023486508	0.14903	0.7463937	-0.651050162122238	0.18190	0.9706369	0.864910583223825	0.25299	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	3.51	1.13	0.19758	-0.011000	0.12659	1.865000	0.29348	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.993000	0.69303	0.2041:0.1665:0.337:0.2924	0.574	0.00655	819	0.41190	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1818.08	35	chr22	50447194	.	G	A	1818.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.92;SOR=2.170	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1846,153,0	20	1	0	0
chrX	7843768	7843768	-	CTGTGTGGAT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGTGGAT:p.S125Tfs*128,	.	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs768077574	0.0023	0.0032	0.0029	0.0006	0.0052	0.0022	0.0021	0.0030	0.0028	0.0015	0.0023	0.0057	0.0036	0.0045	0.0052	0.0020	0.0039	0.0010	0.0015	0.0055	0.0019	0	0.0022	0.0013	0.0012	0.0015	0.0013	0.0011	0.0028	0.0007	0.0022	0.0020	0.0011	0.0086	0.0018	0.0014	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	580.02	50	chrX	7843768	.	A	ACTGT,ACTGTGTGGAT	580.02	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.087e+00;DP=2172;ExcessHet=0.3300;FS=52.634;InbreedingCoeff=-0.0770;MLEAC=2,1;MLEAF=0.048,0.024;MQ=34.60;MQRankSum=0.657;QD=8.41;ReadPosRankSum=-1.973e+00;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:7843706_T_C:357,0,597,402,630,1032:7843706	18	0	2	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2446.35	418	chrX	7843933	.	A	G,*	2446.35	.	AC=2,2;AF=0.063,0.063;AN=32;BaseQRankSum=4.80;DP=4453;ExcessHet=0.7148;FS=15.808;InbreedingCoeff=-0.0857;MLEAC=2,2;MLEAF=0.063,0.063;MQ=44.62;MQRankSum=-5.000e-03;QD=2.95;ReadPosRankSum=-4.069e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:80,0,6:86:34:.:.:34,275,3523,0,3248,3207	12	0	2	5
chrX	7843938	7843938	A	0	exonic	VCX	.	.	.	.	.	446	1000	38	24	14	100	0.0412272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1098.86	416	chrX	7843938	.	A	G,*	1098.86	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=1.73;DP=4502;ExcessHet=0.3300;FS=24.150;InbreedingCoeff=-0.1053;MLEAC=1,2;MLEAF=0.026,0.053;MQ=40.47;MQRankSum=0.780;QD=2.13;ReadPosRankSum=-2.742e+00;SOR=2.256	GT:AD:DP:GQ:PL	0/2:80,0,6:86:34:34,275,3523,0,3248,3207	16	0	1	2
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M,	.	.	437	977	32	24	52	132	0.0393314	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.96	D	0.35	B	.	.	1.000	N	-0.895	N	1.95	T	-0.975	T	0.015	T	0.15	-0.236	2.861	.	-2.086	-0.450	5.945	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	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	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:80,0,6:86:34:.:.:34,275,3523,0,3248,3207	14	0	2	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:80,0,6:86:34:.:.:34,275,3523,0,3248,3207	14	0	2	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,39,6,0:45:99:.:.:2373,324,144,1321,0,1648,2041,327,1569,2181	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,39,6,0:45:99:.:.:2373,324,144,1321,0,1648,2041,327,1569,2181	0	8	6	4
chrX	12717058	12717058	A	G	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368400:exon14:c.A2479G:p.N827D	Mental retardation, X-linked 104, X-linked recessive	.	0	1508	9	5	0	19	0.0062603	.	.	430646	FRMPD4-related_disorder|not_provided|Intellectual_disability,_X-linked_104|not_specified	.|MedGen:C3661900|MONDO:MONDO:0010509,MedGen:C4310817,OMIM:300983|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.285	N	1.000	N	-1.11	N	3.99	T	-0.917	T	0.003	T	0.013	-1.430	0.021	2.31	0.650	3.540	2.963	0.127	0.00466269280194	0.0004	.	0.0008	0	0.0002	0	0	0.0004	0	0.0047	0.0007438	115	154602	rs144170600	0.0004	0.0004	0.0003	0.0006	0.0036	0.0004	0.0004	0.0032	0.0030	3.798e-05	0.0001	0.0008	0	0	0.0029	0.0002	0.0006	0.0036	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0015	0.0011	0	0	9.268e-05	0	0	0	0.0046	0.0003	0.0006	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.284958	0.14875	N	0.691114	1	0.08975	N	-0.5	0.02616	N	3.99	0.03268	T	1.76	0.00537	N	0.055	0.02658	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0034191012	0.00060	T	0.004663	0.11566	T	0.127	0.34888	.	.	0.102598925029	0.09809	0.22814520993983353	0.22729	0.13938543643	0.15712	0.29274636507	0.09324	T	0.026038	0.19349	T	-0.898799	0.00000	T	-1.06412	0.00053	T	0.00939057609111446	0.00120	T	0.755224	0.38228	T	0.048890706	0.08593	0.063534744	0.12599	0.06173202	0.12814	0.05236436	0.08610	-1.722	0.02287	T	.	.	0.052	0.01011	B	.;.	.;.	0.744961	0.11144	7.787	0.2761504721403451	0.01379	0.30211	0.24024	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0168536438238652	0.12882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	2.31	0.27816	3.645000	0.54129	0.979000	0.23112	0.731000	0.85647	0.999000	0.42656	0.000000	0.08366	0.975000	0.56047	0.2928:0.3853:0.3219:0.0	2.963	0.05537	728	0.54609	.;.	.	.	.	.	.	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	0.04762	1354.08	42	chrX	12717058	.	A	G	1354.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.03;SOR=1.845	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1382,123,0	20	1	0	0
chrX	19965629	19965629	C	T	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon3:c.G689A:p.R230K	.	.	438	1080	2	2	0	6	0.00277008	.	.	3297985	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.997	D	0.941	D	.	.	0.782	D	1.04	L	2.54	T	-1.051	T	0.066	T	0.248	4.555	24.6	5.54	2.322	3.937	18.545	0.109	0.0366109454092	.	.	3.7e-05	0	0	0	0	4.325e-05	0	0.0002	3.88e-05	6	154602	rs755604161	1.806e-05	1.912e-05	1.403e-05	2.652e-05	0.0018	1.155e-05	9.31e-06	0.0008	0.0006	0	0	0	0	0	0.0018	6.075e-06	4.543e-05	0.0001	8.911e-06	8.702e-06	1.285e-05	0	1.877e-05	0	0	.	.	0	0	0	0	0	0	0	1.877e-05	0	0	0.013	0.54683	D	0.056	0.46632	T	0.997	0.70673	D	0.941	0.67658	D	.	.	.	.	0.782449	0.34284	D	.	.	.	2.54	0.13916	T	-0.73	0.20576	N	0.11	0.09631	-1.0512	0.14064	T	0.066	0.27121	T	8	0.16300723	0.30535	T	0.036611	0.57098	D	0.109	0.30843	0.177	0.08379	0.187035705434	0.18338	0.07377356613028396	0.07314	0.905042441725	0.70802	.	.	.	0.227184	0.59241	T	-0.465345	0.00910	T	-0.636912	0.09896	T	0.381576121726262	0.28243	T	0.823318	0.48387	T	0.4429976	0.63595	0.51573014	0.72019	0.4429976	0.63596	0.51573014	0.72019	-4.072	0.24876	T	.	.	0.133	0.28807	B	.;.	.;.	2.979107	0.39734	21.0	0.99642616834758391	0.76756	0.95074	0.63343	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999967810049	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	5.54	0.82907	4.007000	0.56808	2.708000	0.34213	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.545	0.90994	67	0.97183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1371.08	34	chrX	19965629	.	C	T	1371.08	.	AC=2;AF=0.048;AN=42;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.44;SOR=1.666	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1399,123,0	20	1	0	0
chrX	25013663	25013665	GCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_332del:p.A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	2/2:0,0,5:5:15:225,225,225,15,15,0	18	0	1	1
chrX	25013660	25013665	GCCGCC	-	exonic	ARX	.	nonframeshift deletion	ARX:NM_139058:exon2:c.330_335del:p.A114_A115del,	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	167602	Developmental_and_epileptic_encephalopathy,_1|Intellectual_disability,_X-linked,_with_or_without_seizures,_arx-related|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,Orphanet:777|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587783197	0.0002	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0.0002	0.0007	0	0.0009	0.0004	0.0008	0.0001	0.0002	7.762e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.754e-05	0.0001	0.0001	0.0001	0	9.695e-05	0	0.0006	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	244.17	2	chrX	25013659	.	TGCCGCC	TGCC,T	244.17	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=1.92;DP=135;ExcessHet=0.0000;FS=5.119;InbreedingCoeff=0.2734;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.023;SOR=2.252	GT:AD:DP:GQ:PL	2/2:0,0,5:5:15:225,225,225,15,15,0	18	0	1	1
chrX	47182249	47182249	G	A	exonic	RBM10	.	nonsynonymous SNV	RBM10:NM_001204466:exon16:c.G1642A:p.G548R	TARP syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.003	N	1.000	N	1.895	L	2.87	T	-1.037	T	0.112	T	0.262	2.549	14.48	4.85	2.137	2.769	10.036	0.061	0.106017469113	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191525682	9.109e-07	9.105e-07	0	2.753e-06	3.788e-05	0	0	.	.	3.788e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.58613	D	0.998	0.90584	D	0.749	0.97372	P	0.002747	0.36001	N	0.225856	1	0.08975	N	1.845	0.48678	L	2.87	0.14783	T	-2.5	0.54382	D	0.099	0.08506	-1.0370	0.18233	T	0.112	0.40145	T	10	0.1877704	0.34303	T	0.106017	0.78141	D	0.061	0.17616	0.168	0.07302	0.614654210094	0.61153	0.5231156590901097	0.52235	1.92661065123	0.93051	0.829219818115	0.86442	D	0.514069	0.82878	D	-0.303694	0.08315	T	-0.674012	0.07353	T	0.905281960964203	0.55898	D	0.922208	0.71716	D	0.18073267	0.39209	0.30703306	0.56726	0.18073267	0.39209	0.30703306	0.56725	-10.493	0.78661	D	0.13104390096324	0.13843	0.432	0.64812	A	.;.;.;.	.;.;.;.	3.947966	0.57820	23.9	0.99798163136321394	0.88283	0.41055	0.26573	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.975073434751288	0.29600	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	4.85	0.62375	3.207000	0.50808	9.873000	0.82142	0.676000	0.76740	0.691000	0.28541	1.000000	0.68203	0.719000	0.34739	0.0:0.0:0.7989:0.2011	10.036	0.41301	388	0.83355	RBM10, OCRE domain;RBM10, OCRE domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	3467.08	49	chrX	47182249	.	G	A	3467.08	.	AC=2;AF=0.048;AN=42;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.10;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3495,324,0	20	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	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	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:67,586:653:53:18568,0,53	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	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	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	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	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:536,172:708:99:3218,0,16277	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	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	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:523,153:676:99:2768,0,15923	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	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	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:402,180:582:99:4410,0,12601	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:68,419:506:99:14345,0,592	0	1	20	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,80:381:99:0|1:55146247_G_C:2370,0,12220:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:262,77,20:359:99:.:.:2348,0,11141,2523,10290,13431	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:139,211:350:99:6650,0,4868	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,70:347:99:0|1:55146247_G_C:2105,0,11420:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,70,0:347:99:0|1:55146247_G_C:2105,0,11420,2939,11631,14570:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,70,0:347:99:0|1:55146247_G_C:2105,0,11420,2939,11631,14570:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:55,196:251:99:6953,0,1502	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:181,26:207:82:82,0,5934	5	0	15	1
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,18:223:99:0|1:74591902_T_A:139,0,8531:74591902	8	0	13	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/1:55,12:67:4:4,0,1191	13	0	7	1
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,210,0:210:99:.:.:6407,628,0,6407,628,6407	4	11	2	2
chrX	152969431	152969431	C	T	exonic	ZNF185	.	nonsynonymous SNV	ZNF185:NM_001178115:exon7:c.C832T:p.P278S	.	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.724	D	1.1	L	-1.97	D	-0.771	T	0.151	T	0.362	3.478	17.80	4.42	2.167	1.782	10.309	0.064	0.0312588711264	0.0011	0.0010596	0.0007	0.0038	0.0007	0	0	0.0003	0.0025	0.0009	0.0004916	76	154602	rs182646834	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0004	0	0	0	0.0010	0.0002	0.0006	0.0008	0.0011	0.0011	0.0012	0.0009	0.0037	0.0010	0.0009	0.0031	0.0029	0.0037	0	0.0002	0	0	0	0	0.0002	0	0.0004	0.008	0.59928	D	0.141	0.92824	T	1.0	0.90584	D	0.996	0.88582	D	0.000268	0.46590	D	0.000000	0.723687	0.33644	D	1.61	0.41143	L	-1.97	0.85173	D	-4.15	0.82341	D	0.478	0.57690	-0.7712	0.56792	T	0.151	0.47944	T	10	0.012247324	0.00264	T	0.031259	0.53383	D	0.409	0.72099	.	.	0.234412748748	0.23057	0.28794117608985964	0.28707	0.347770780837	0.36658	0.475897192955	0.35493	T	0.206263	0.56555	T	-0.301027	0.08563	T	-0.207602	0.53924	T	0.0318236687031579	0.02277	T	0.954605	0.84151	D	0.28954378	0.51950	0.34626123	0.60297	0.28954378	0.51950	0.34626123	0.60296	-11.808	0.83983	D	.	.	0.469	0.74599	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.540991	0.49734	22.8	0.9989180020973375	0.96589	0.88708	0.48765	D	AEFBHI	.	.	.	.	.	.	.	.	.	0.0849037946650473	0.15968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.42	4.42	0.52775	2.392000	0.44087	.	.	0.599000	0.40250	0.994000	0.38300	0.996000	0.32793	0.955000	0.50612	0.0:0.803:0.197:0.0	10.309	0.42877	253	0.90069	.;.;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2628.08	37	chrX	152969431	.	C	T	2628.08	.	AC=2;AF=0.048;AN=42;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.85;SOR=1.031	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2656,240,0	20	1	0	0